diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/2_4_dienoyl_CoA_reductase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/2_4_dienoyl_CoA_reductase_deficiency_patient_1.json new file mode 100644 index 000000000..3fb016f20 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/2_4_dienoyl_CoA_reductase_deficiency_patient_1.json @@ -0,0 +1,159 @@ +{ + "id": "2,4-dienoyl-coa_reductase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002188", + "label": "Delayed CNS myelination" + } + }, + { + "type": { + "id": "HP:0002421", + "label": "Poor head control" + } + }, + { + "type": { + "id": "HP:0002311", + "label": "Incoordination" + } + }, + { + "type": { + "id": "HP:0033994", + "label": "Dependency on parenteral nutrition" + } + }, + { + "type": { + "id": "HP:0000540", + "label": "Hypermetropia" + } + }, + { + "type": { + "id": "HP:0006829", + "label": "Severe muscular hypotonia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0001996", + "label": "Chronic metabolic acidosis" + } + }, + { + "type": { + "id": "HP:0012389", + "label": "Appendicular hypotonia" + } + }, + { + "type": { + "id": "HP:0034919", + "label": "Reduced liver 2,4-dienoyl-CoA reductase activity" + } + }, + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + } + }, + { + "type": { + "id": "HP:0011408", + "label": "Moderate intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0003112", + "label": "Abnormal circulating amino acid concentration" + } + }, + { + "type": { + "id": "HP:0007034", + "label": "Generalized hyperreflexia" + } + }, + { + "type": { + "id": "HP:0002179", + "label": "Opisthotonus" + } + }, + { + "type": { + "id": "HP:0002118", + "label": "Abnormal cerebral ventricle morphology" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0100704", + "label": "Cerebral visual impairment" + } + }, + { + "type": { + "id": "HP:0003297", + "label": "Hyperlysinuria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616034", + "label": "2,4-dienoyl-CoA reductase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T22:16:14.617257Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/2_Methylbutyryl_Coa_dehydrogenase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/2_Methylbutyryl_Coa_dehydrogenase_deficiency_patient_1.json new file mode 100644 index 000000000..bb175a605 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/2_Methylbutyryl_Coa_dehydrogenase_deficiency_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "2-methylbutyryl-coa_dehydrogenase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012389", + "label": "Appendicular hypotonia" + } + }, + { + "type": { + "id": "HP:0040156", + "label": "Elevated urinary carboxylic acid" + } + }, + { + "type": { + "id": "HP:0010862", + "label": "Delayed fine motor development" + } + }, + { + "type": { + "id": "HP:0005964", + "label": "Intermittent hypothermia" + } + } + ], + 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/3MC_syndrome_1_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "3mc_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal defect" + } + }, + { + "type": { + "id": "HP:0000496", + "label": "Abnormality of eye movement" + } + }, + { + "type": { + "id": "HP:0000501", + "label": "Glaucoma" + } + }, + { + "type": { + "id": "HP:0001773", + "label": "Short foot" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0004227", + "label": "Short distal phalanx of the 5th finger" + } + }, + { + "type": { + "id": "HP:0007838", + "label": "Progressive ptosis" + } + }, + { + "type": { + "id": "HP:0011321", + "label": "Left unilambdoid synostosis" + } + }, + { + "type": { + "id": "HP:0010944", + "label": "Abnormal renal pelvis morphology" + } + }, + { + "type": { + "id": 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index 000000000..b6f8f9cfd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/3MC_syndrome_2_patient_1.json @@ -0,0 +1,147 @@ +{ + "id": "3mc_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001540", + "label": "Diastasis recti" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0000925", + "label": "Abnormality of the vertebral column" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0010759", + "label": "Prominence of the premaxilla" + } + }, + { + "type": { + "id": "HP:0002544", + "label": "Retrocollis" + } + }, + { + "type": { + "id": "HP:0001363", + "label": "Craniosynostosis" + } + }, + { + "type": { + "id": "HP:0000534", + "label": "Abnormal eyebrow morphology" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/3_Hydroxyacyl_Coa_dehydrogenase_deficiency_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "3-hydroxyacyl-coa_dehydrogenase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033354", + "label": "Abnormal urine metabolite level" + } + }, + { + "type": { + "id": "HP:0410042", + "label": "Abnormal liver morphology" + } + }, + { + "type": { + "id": "HP:0001670", + "label": "Asymmetric septal hypertrophy" + } + }, + { + "type": { + "id": "HP:0001985", + "label": "Hypoketotic hypoglycemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:231530", + "label": "3-Hydroxyacyl-Coa dehydrogenase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T21:34:53.244342Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/3_M_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/3_M_syndrome_1_patient_1.json new file mode 100644 index 000000000..a6e2b7c99 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/3_M_syndrome_1_patient_1.json @@ -0,0 +1,153 @@ +{ + "id": "3-m_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001763", + "label": "Pes planus" + } + }, + { + "type": { + "id": "HP:0000303", + "label": "Mandibular prognathia" + } + }, + { + "type": { + "id": 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/3_M_syndrome_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/3_M_syndrome_3_patient_1.json new file mode 100644 index 000000000..6f35eb042 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/3_M_syndrome_3_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "3-m_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0003307", + "label": "Hyperlordosis" + } + }, + { + "type": { + "id": "HP:0001518", + "label": "Small for gestational age" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000307", + "label": "Pointed chin" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/46XY_sex_reversal_1_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "46xy_sex_reversal_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011969", + "label": "Elevated circulating luteinizing hormone level" + } + }, + { + "type": { + "id": "HP:0008723", + "label": "Gonadal dysgenesis with female appearance, male" + } + }, + { + "type": { + "id": "HP:0008232", + "label": "Elevated circulating follicle stimulating hormone level" + } + }, + { + "type": { + "id": "HP:0008187", + "label": "Absence of secondary sex characteristics" + } + }, + { + "type": { + "id": "HP:0000786", + "label": "Primary amenorrhea" + } + }, + { + "type": { + "id": "HP:0000815", + "label": "Hypergonadotropic hypogonadism" + } + }, + { + "type": { + "id": "HP:0000098", + "label": "Tall stature" + } + }, + { + "type": { + "id": "HP:0000150", + "label": "Gonadoblastoma" + } + }, + { + "type": { + "id": "HP:0000133", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/46XY_sex_reversal_3_patient_1.json new file mode 100644 index 000000000..0a1d99e7d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/46XY_sex_reversal_3_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "46xy_sex_reversal_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000047", + "label": "Hypospadias" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0011969", + "label": "Elevated circulating luteinizing hormone level" + } + }, + { + "type": { + "id": "HP:0008232", + "label": "Elevated circulating follicle stimulating hormone level" + } + }, + { + "type": { + "id": "HP:0000055", + "label": "Abnormal female external genitalia morphology" + } + }, + { + "type": { + "id": "HP:0012243", + "label": "Abnormal reproductive system morphology" + } + } + ], + "diseases": [ + { + "term": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/46XY_sex_reversal_5_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "46xy_sex_reversal_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008232", + "label": "Elevated circulating follicle stimulating hormone level" + } + }, + { + "type": { + "id": "HP:0012245", + "label": "Sex reversal" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613080", + "label": "46XY sex reversal 5" + } + } + ], + "metaData": { + "created": "2024-06-11T17:55:01.764933Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/46_XX_sex_reversal_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/46_XX_sex_reversal_2_patient_1.json new file mode 100644 index 000000000..a0ded5fe9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/46_XX_sex_reversal_2_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "46,xx_sex_reversal_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000046", + "label": "Small scrotum" + } + }, + { + "type": { + "id": "HP:0011969", + "label": "Elevated circulating luteinizing hormone level" + } + }, + { + "type": { + "id": "HP:0012861", + "label": "Ovotestis" + } + }, + { + "type": { + "id": "HP:0000789", + "label": "Infertility" + } + }, + { + "type": { + "id": "HP:0040171", + "label": "Decreased 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/46_XX_sex_reversal_with_dysgenesis_of_kidneys_adrenals_and_lungs_patient_1.json new file mode 100644 index 000000000..92043e79b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/46_XX_sex_reversal_with_dysgenesis_of_kidneys_adrenals_and_lungs_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "46,xx_sex_reversal_with_dysgenesis_of_kidneys,_adrenals,_and_lungs", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0004415", + "label": "Pulmonary artery stenosis" + } + }, + { + "type": { + "id": "HP:0000104", + "label": "Renal agenesis" + } + }, + { + "type": { + "id": "HP:0001562", + "label": "Oligohydramnios" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611812", + "label": "46,XX sex reversal with 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/46_XY_sex_reversal_10_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "46,xy_sex_reversal_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012245", + "label": "Sex reversal" + } + }, + { + "type": { + "id": "HP:0008734", + "label": "Decreased testicular size" + } + }, + { + "type": { + "id": "HP:0000150", + "label": "Gonadoblastoma" + } + }, + { + "type": { + "id": "HP:0000811", + "label": "Abnormal external genitalia" + } + }, + { + "type": { + "id": "HP:0100621", + "label": "Dysgerminoma" + } + }, + { + "type": { + "id": "HP:0000811", + "label": "Abnormal external genitalia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616425", + "label": "46,XY sex reversal 10" + } + } + ], + "metaData": { + "created": "2024-06-11T22:33:21.165318Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/46_xx_sex_reversal_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/46_xx_sex_reversal_3_patient_1.json new file mode 100644 index 000000000..25929edf9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/46_xx_sex_reversal_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "46,xx_sex_reversal_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012245", + "label": "Sex reversal" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300833", + "label": "46,xx sex reversal 3" + } + } + ], + "metaData": { + "created": "2024-06-11T23:32:41.611453Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/46_xy_sex_reversal_6_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "46,xy_sex_reversal_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012245", + "label": "Sex reversal" + } + }, + { + "type": { + "id": "HP:0000133", + "label": "Gonadal dysgenesis" + } + }, + { + "type": { + "id": "HP:0002215", + "label": "Sparse axillary hair" + } + }, + { + "type": { + "id": "HP:0100621", + "label": "Dysgerminoma" + } + }, + { + "type": { + "id": "HP:0000041", + "label": "Chordee" + } + }, + { + "type": { + "id": "HP:0002230", + "label": "Generalized hirsutism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613762", + "label": "46,xy sex reversal 6" + } + } + ], + "metaData": { + "created": "2024-06-11T22:25:06.837532Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/46_xy_sex_reversal_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/46_xy_sex_reversal_7_patient_1.json new file mode 100644 index 000000000..6af6cc018 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/46_xy_sex_reversal_7_patient_1.json @@ -0,0 +1,74 @@ +{ + "id": "46,xy_sex_reversal_7", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P29Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008668", + "label": "Gonadal dysgenesis, male" + } + }, + { + "type": { + "id": "HP:0012245", + "label": "Sex reversal" + } + }, + { + "type": { + "id": "HP:0010464", + "label": "Streak ovary" + } + }, + { + "type": { + "id": "HP:0000030", + "label": "Testicular gonadoblastoma" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:233420", + "label": "46,xy sex reversal 7" + } + } + ], + "metaData": { + "created": "2024-06-11T22:59:50.644150Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/46_xy_sex_reversal_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/46_xy_sex_reversal_8_patient_1.json new file mode 100644 index 000000000..8bc07663a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/46_xy_sex_reversal_8_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "46,xy_sex_reversal_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000062", + "label": "Ambiguous genitalia" + } + }, + { + "type": { + "id": "HP:0000037", + "label": "Male pseudohermaphroditism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614279", + "label": "46,xy sex reversal 8" + } + } + ], + "metaData": { + "created": "2024-06-12T02:17:15.762714Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/46_xy_sex_reversal_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/46_xy_sex_reversal_9_patient_1.json new file mode 100644 index 000000000..240e1b1ac --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/46_xy_sex_reversal_9_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "46,xy_sex_reversal_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000729", + "label": "Autistic behavior" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616067", + "label": "46,xy sex reversal 9" + } + } + ], + "metaData": { + "created": "2024-06-11T17:43:07.823130Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/5_oxoprolinase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/5_oxoprolinase_deficiency_patient_1.json new file mode 100644 index 000000000..3c09fddd1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/5_oxoprolinase_deficiency_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "5-@oxoprolinase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008672", + "label": "Calcium oxalate nephrolithiasis" + } + }, + { + "type": { + "id": "HP:0002014", + "label": "Diarrhea" + } + }, + { + "type": { + "id": "HP:0040142", + "label": "Reduced circulating 5-oxoprolinase activity" + } + }, + { + "type": { + "id": "HP:0002013", + "label": "Vomiting" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:260005", + "label": "5-@oxoprolinase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T20:06:30.580703Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/6_phosphogluconolactonase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/6_phosphogluconolactonase_deficiency_patient_1.json new file mode 100644 index 000000000..cf582633f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/6_phosphogluconolactonase_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "6-@phosphogluconolactonase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001878", + "label": "Hemolytic anemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:172150", + "label": "6-@phosphogluconolactonase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T18:45:39.760255Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/ABCD_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/ABCD_syndrome_patient_1.json new file mode 100644 index 000000000..c4e2c3781 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/ABCD_syndrome_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "abcd_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001022", + "label": "Albinism" + } + }, + { + "type": { + "id": "HP:0001901", + "label": "Polycythemia" + } + }, + { + "type": { + "id": "HP:0001520", + "label": "Large for gestational age" + } + }, + { + "type": { + "id": "HP:0002226", + "label": "White eyebrow" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600501", + "label": "ABCD syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:47:03.238689Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/ABETALIPOPROTEINEMIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/ABETALIPOPROTEINEMIA_patient_1.json new file mode 100644 index 000000000..5beca7e72 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/ABETALIPOPROTEINEMIA_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "abetalipoproteinemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000546", + "label": "Retinal degeneration" + } + }, + { + "type": { + "id": "HP:0011096", + "label": "Peripheral demyelination" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:200100", + "label": "ABETALIPOPROTEINEMIA" + } + } + ], + "metaData": { + "created": "2024-06-11T21:31:58.140147Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/ACCES_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/ACCES_syndrome_patient_1.json new file mode 100644 index 000000000..5fa840b3e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/ACCES_syndrome_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "acces_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100257", + "label": "Ectrodactyly" + } + }, + { + "type": { + "id": "HP:0000278", + "label": "Retrognathia" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0002209", + "label": "Sparse scalp hair" + } + }, + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0001839", + "label": "Split foot" + } + }, + { + "type": { + "id": "HP:0000729", + "label": "Autistic behavior" + } + }, + { + "type": { + "id": "HP:0002558", + "label": "Supernumerary nipple" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619959", + "label": "ACCES syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:40:25.777872Z", + "createdBy": 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0002071", + "label": "Abnormality of extrapyramidal motor function" + } + }, + { + "type": { + "id": "HP:0000643", + "label": "Blepharospasm" + } + }, + { + "type": { + "id": "HP:0002168", + "label": "Scanning speech" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0000726", + "label": "Dementia" + } + }, + { + "type": { + "id": "HP:0003281", + "label": "Increased circulating ferritin concentration" + } + }, + { + "type": { + "id": "HP:0002396", + "label": "Cogwheel rigidity" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0008035", + "label": "Retinitis pigmentosa inversa" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604290", + "label": "ACERULOPLASMINEMIA" + } + } + ], + "metaData": { + "created": "2024-06-11T23:17:10.532349Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/ACROKERATOELASTOIDOSIS_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/ACROKERATOELASTOIDOSIS_patient_1.json new file mode 100644 index 000000000..fb9e9240f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/ACROKERATOELASTOIDOSIS_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "acrokeratoelastoidosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200016", + "label": "Acrokeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:101850", + "label": "ACROKERATOELASTOIDOSIS" + } + } + ], + "metaData": { + "created": "2024-06-11T21:15:10.717862Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/ACROOSTEOLYSIS_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/ACROOSTEOLYSIS_patient_1.json new file mode 100644 index 000000000..f3f8ee427 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/ACROOSTEOLYSIS_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "acroosteolysis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010177", + "label": "Osteolytic defects of the phalanges of the toes" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:102400", + "label": "ACROOSTEOLYSIS" + } + } + ], + "metaData": { + "created": "2024-06-11T20:54:09.823026Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/ACROPECTOROVERTEBRAL_DYSPLASIA_F_FORM_OF_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/ACROPECTOROVERTEBRAL_DYSPLASIA_F_FORM_OF_patient_1.json new file mode 100644 index 000000000..eed773203 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/ACROPECTOROVERTEBRAL_DYSPLASIA_F_FORM_OF_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "acropectorovertebral_dysplasia,_f-form_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002652", + "label": "Skeletal dysplasia" + } + }, + { + "type": { + "id": "HP:0004601", + "label": "Spina bifida occulta at L5" + } + }, + { + "type": { + "id": "HP:0009611", + "label": "Bifid distal phalanx of the thumb" + } + }, + { + "type": { + "id": "HP:0100818", + "label": "Long thorax" + } + }, + { + "type": { + "id": "HP:0001241", + "label": "Capitate-hamate fusion" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:0100266", + "label": "Synostosis of carpals/tarsals" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:102510", + "label": "ACROPECTOROVERTEBRAL DYSPLASIA, F-FORM OF" + } + } + ], + "metaData": { + "created": "2024-06-11T18:09:53.256517Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/ACTH_independent_macronodular_adrenal_hyperplasia_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/ACTH_independent_macronodular_adrenal_hyperplasia_2_patient_1.json new file mode 100644 index 000000000..189712091 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/ACTH_independent_macronodular_adrenal_hyperplasia_2_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "acth-independent_macronodular_adrenal_hyperplasia_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012030", + "label": "Increased urinary cortisol level" + } + }, + { + "type": { + "id": "HP:0002920", + "label": "Decreased circulating ACTH concentration" + } + }, + { + "type": { + "id": "HP:0012743", + "label": "Abdominal obesity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615954", + "label": "ACTH-independent macronodular adrenal hyperplasia 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:25:21.227354Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/ACTH_independent_macronodular_adrenal_hyperplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/ACTH_independent_macronodular_adrenal_hyperplasia_patient_1.json new file mode 100644 index 000000000..55aa6c5da --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/ACTH_independent_macronodular_adrenal_hyperplasia_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "acth-independent_macronodular_adrenal_hyperplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000712", + "label": "Emotional lability" + } + }, + { + "type": { + "id": "HP:0000709", + "label": "Psychosis" + } + }, + { + "type": { + "id": "HP:0001065", + "label": "Striae distensae" + } + }, + { + "type": { + "id": "HP:0000739", + "label": "Anxiety" + } + }, + { + "type": { + "id": "HP:0000939", + "label": "Osteoporosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:219080", + "label": "ACTH-independent macronodular adrenal hyperplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T21:17:12.383071Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/AICA_ribosiduria_due_to_ATIC_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/AICA_ribosiduria_due_to_ATIC_deficiency_patient_1.json new file mode 100644 index 000000000..906cd7232 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/AICA_ribosiduria_due_to_ATIC_deficiency_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "aica-ribosiduria_due_to_atic_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008665", + "label": "Clitoral hypertrophy" + } + }, + { + "type": { + "id": "HP:0001943", + "label": "Hypoglycemia" + } + }, + { + "type": { + "id": "HP:0004487", + "label": "Acrobrachycephaly" + } + }, + { + "type": { + "id": "HP:0031723", + "label": "Secondary esotropia" + } + }, + { + "type": { + "id": "HP:0001024", + "label": "Skin dimple over apex of long bone angulation" + } + }, + { + "type": { + "id": "HP:0005487", + "label": "Prominent metopic ridge" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0002187", + "label": "Intellectual disability, profound" + } + }, + { + "type": { + "id": "HP:0033354", + "label": "Abnormal urine metabolite level" + } + }, + { + "type": { + "id": "HP:0000058", + "label": "Abnormal labia morphology" + } + }, + { + "type": { + "id": "HP:0000154", + "label": "Wide mouth" + } + }, + { + "type": { + "id": "HP:0001684", + "label": "Secundum atrial septal defect" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608688", + "label": "AICA-ribosiduria due to ATIC deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T18:23:41.594954Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/ALACRIMA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/ALACRIMA_patient_1.json new file mode 100644 index 000000000..7fc5fbace --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/ALACRIMA_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "alacrima", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000522", + "label": "Alacrima" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601549", + "label": "ALACRIMA" + } + } + ], + "metaData": { + "created": "2024-06-11T22:39:32.204165Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/ALPHA_THALASSEMIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/ALPHA_THALASSEMIA_patient_1.json new file mode 100644 index 000000000..1cc80b448 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/ALPHA_THALASSEMIA_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "alpha-thalassemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004840", + "label": "Hypochromic microcytic anemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604131", + "label": "ALPHA-THALASSEMIA" + } + } + ], + "metaData": { + "created": "2024-06-11T23:10:11.557062Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/AMED_syndrome_digenic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/AMED_syndrome_digenic_patient_1.json new file mode 100644 index 000000000..1aee9d078 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/AMED_syndrome_digenic_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "amed_syndrome,_digenic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000953", + "label": "Hyperpigmentation of the skin" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0033044", + "label": "Motor regression" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000506", + "label": "Telecanthus" + } + }, + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0001882", + "label": "Leukopenia" + } + }, + { + "type": { + "id": "HP:0000835", + "label": "Adrenal hypoplasia" + } + }, + { + "type": { + "id": "HP:0032524", + "label": "Long thumb" + } + }, + { + "type": { + "id": "HP:0004808", + "label": "Acute myeloid leukemia" + } + }, + { + "type": { + "id": "HP:0012148", + "label": "Multiple lineage myelodysplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619151", + "label": "AMED syndrome, digenic" + } + } + ], + "metaData": { + "created": "2024-06-11T18:52:43.960549Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/AMME_complex_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/AMME_complex_patient_1.json new file mode 100644 index 000000000..8618566a7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/AMME_complex_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "amme_complex", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001212", + "label": "Prominent fingertip pads" + } + }, + { + "type": { + "id": "HP:0004445", + "label": "Elliptocytosis" + } + }, + { + "type": { + "id": "HP:0005824", + "label": "Clinodactyly of the 2nd toe" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0000790", + "label": "Hematuria" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300194", + "label": "AMME complex" + } + } + ], + "metaData": { + "created": "2024-06-11T18:27:31.028621Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/AMOBARBITAL_DEFICIENT_N_HYDROXYLATION_OF_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/AMOBARBITAL_DEFICIENT_N_HYDROXYLATION_OF_patient_1.json new file mode 100644 index 000000000..6a6b379e2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/AMOBARBITAL_DEFICIENT_N_HYDROXYLATION_OF_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "amobarbital,_deficient_n-hydroxylation_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001939", + "label": "Abnormality of metabolism/homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:204800", + "label": "AMOBARBITAL, DEFICIENT N-HYDROXYLATION OF" + } + } + ], + "metaData": { + "created": "2024-06-11T20:39:11.947862Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/ANONYCHIA_ECTRODACTYLY_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/ANONYCHIA_ECTRODACTYLY_patient_1.json new file mode 100644 index 000000000..d34ded8e6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/ANONYCHIA_ECTRODACTYLY_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "anonychia-ectrodactyly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001171", + "label": "Split hand" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:106900", + "label": "ANONYCHIA-ECTRODACTYLY" + } + } + ], + "metaData": { + "created": "2024-06-11T22:37:44.072981Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/ANOSMIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/ANOSMIA_patient_1.json new file mode 100644 index 000000000..f0271a860 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/ANOSMIA_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "anosmia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000458", + "label": "Anosmia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301700", + "label": "ANOSMIA" + } + } + ], + "metaData": { + "created": "2024-06-11T18:54:48.039506Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/AREDYLD_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/AREDYLD_patient_1.json new file mode 100644 index 000000000..402d8bb07 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/AREDYLD_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "aredyld", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000968", + "label": "Ectodermal dysplasia" + } + }, + { + "type": { + "id": "HP:0004528", + "label": "Generalized hypotrichosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:207780", + "label": "AREDYLD" + } + } + ], + "metaData": { + "created": "2024-06-12T02:17:21.674680Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/ATRANSFERRINEMIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/ATRANSFERRINEMIA_patient_1.json new file mode 100644 index 000000000..a4e55fe13 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/ATRANSFERRINEMIA_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "atransferrinemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001392", + "label": "Abnormality of the liver" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:209300", + "label": "ATRANSFERRINEMIA" + } + } + ], + "metaData": { + "created": "2024-06-11T21:00:04.536784Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + 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000000000..fe9a3f0bb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aase_Smith_syndrome_I_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "aase-smith_syndrome_i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0001371", + "label": "Flexion contracture" + } + }, + { + "type": { + "id": "HP:0006742", + "label": "Congenital neuroblastoma" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0000194", + "label": "Open mouth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:147800", + "label": "Aase-Smith syndrome I" + } + } + ], + "metaData": { + "created": "2024-06-11T22:30:00.938557Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Abdominal_obesity_metabolic_syndrome_3_patient_1.json new file mode 100644 index 000000000..3ec3af337 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Abdominal_obesity_metabolic_syndrome_3_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "abdominal_obesity-metabolic_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001658", + "label": "Myocardial infarction" + } + }, + { + "type": { + "id": "HP:0005978", + "label": "Type II diabetes mellitus" + } + }, + { + "type": { + "id": "HP:0012743", + "label": "Abdominal obesity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615812", + "label": "Abdominal obesity-metabolic syndrome 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:05:56.267316Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Abdominal_obesity_metabolic_syndrome_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Abdominal_obesity_metabolic_syndrome_4_patient_1.json new file mode 100644 index 000000000..7ba91fa7d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Abdominal_obesity_metabolic_syndrome_4_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "abdominal_obesity-metabolic_syndrome_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040217", + "label": "Elevated hemoglobin A1c" + } + }, + { + "type": { + "id": "HP:0430071", + "label": "Abnormal circulating organic compound concentration" + } + }, + { + "type": { + "id": "HP:0004324", + "label": "Increased body weight" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618620", + "label": "Abdominal obesity-metabolic syndrome 4" + } + } + ], + "metaData": { + "created": "2024-06-11T21:59:44.181854Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Abdominal_obesity_metabolic_syndrome_quantitative_trait_locus_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Abdominal_obesity_metabolic_syndrome_quantitative_trait_locus_2_patient_1.json new file mode 100644 index 000000000..a9890da92 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Abdominal_obesity_metabolic_syndrome_quantitative_trait_locus_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "abdominal_obesity-metabolic_syndrome_quantitative_trait_locus_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000822", + "label": "Hypertension" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605572", + "label": "Abdominal obesity-metabolic syndrome quantitative trait locus 2" + } + } + ], + "metaData": { + "created": "2024-06-12T02:21:16.253601Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Abducens_palsy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Abducens_palsy_patient_1.json new file mode 100644 index 000000000..13af4cff1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Abducens_palsy_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "abducens_palsy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:100200", + "label": "Abducens palsy" + } + } + ], + "metaData": { + "created": "2024-06-11T20:30:34.498552Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ablepharon_Macrostomia_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ablepharon_Macrostomia_syndrome_patient_1.json new file mode 100644 index 000000000..0f054d76d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ablepharon_Macrostomia_syndrome_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "ablepharon-macrostomia_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000154", + "label": "Wide mouth" + } + }, + { + "type": { + "id": "HP:0100678", + "label": "Premature skin wrinkling" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0034262", + "label": "Absent lanugo" + } + }, + { + "type": { + "id": "HP:0025033", + "label": "Abnormal digestive system morphology" + } + }, + { + "type": { + "id": "HP:0011224", + "label": "Ablepharon" + } + }, + { + "type": { + "id": "HP:0004404", + "label": "Abnormal nipple morphology" + } + }, + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + }, + { + "type": { + "id": "HP:0007516", + "label": "Redundant skin on fingers" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:200110", + "label": "Ablepharon-Macrostomia syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:09:47.059274Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Abnormal_hair_joint_laxity_and_developmental_delay_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Abnormal_hair_joint_laxity_and_developmental_delay_patient_1.json new file mode 100644 index 000000000..58c441968 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Abnormal_hair_joint_laxity_and_developmental_delay_patient_1.json @@ -0,0 +1,104 @@ +{ + "id": "abnormal_hair,_joint_laxity,_and_developmental_delay", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P3Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003102", + "label": "Increased carrying angle" + } + }, + { + "type": { + "id": "HP:0001688", + "label": "Sinus bradycardia" + } + }, + { + "type": { + "id": "HP:0001653", + "label": "Mitral regurgitation" + } + }, + { + "type": { + "id": "HP:0008386", + "label": "Aplasia/Hypoplasia of the nails" + } + }, + { + "type": { + "id": "HP:0000534", + "label": "Abnormal eyebrow morphology" + } + }, + { + "type": { + "id": "HP:0033044", + "label": "Motor regression" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0002683", + "label": "Abnormal calvaria morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:261990", + "label": "Abnormal hair, joint laxity, and developmental delay" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:11.152469Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Absent_eyebrows_and_eyelashes_with_mental_retardation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Absent_eyebrows_and_eyelashes_with_mental_retardation_patient_1.json new file mode 100644 index 000000000..d675cd0a8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Absent_eyebrows_and_eyelashes_with_mental_retardation_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "absent_eyebrows_and_eyelashes_with_mental_retardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000501", + "label": "Glaucoma" + } + }, + { + "type": { + "id": "HP:0002223", + "label": "Absent eyebrow" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000444", + "label": "Convex nasal ridge" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:200130", + "label": "Absent eyebrows and eyelashes with mental retardation" + } + } + ], + "metaData": { + "created": "2024-06-11T20:21:01.733003Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acanthosis_nigricans_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acanthosis_nigricans_patient_1.json new file mode 100644 index 000000000..940fbc8f3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acanthosis_nigricans_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "acanthosis_nigricans", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000956", + "label": "Acanthosis nigricans" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:100600", + "label": "Acanthosis nigricans" + } + } + ], + "metaData": { + "created": "2024-06-11T19:50:30.863355Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acanthosis_nigricans_with_muscle_cramps_and_acral_enlargement_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acanthosis_nigricans_with_muscle_cramps_and_acral_enlargement_patient_1.json new file mode 100644 index 000000000..473b3a2a5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acanthosis_nigricans_with_muscle_cramps_and_acral_enlargement_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "acanthosis_nigricans_with_muscle_cramps_and_acral_enlargement", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000855", + "label": "Insulin resistance" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:200170", + "label": "Acanthosis nigricans with muscle cramps and acral enlargement" + } + } + ], + "metaData": { + "created": "2024-06-12T02:17:38.354349Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acatalasemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acatalasemia_patient_1.json new file mode 100644 index 000000000..9d521d5dc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acatalasemia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "acatalasemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012517", + "label": "Reduced circulating catalase activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614097", + "label": "Acatalasemia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:17:10.552125Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acetophenetidin_sensitivity_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acetophenetidin_sensitivity_patient_1.json new file mode 100644 index 000000000..773daa58d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acetophenetidin_sensitivity_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "acetophenetidin_sensitivity", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012119", + "label": "Methemoglobinemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:200300", + "label": "Acetophenetidin sensitivity" + } + } + ], + "metaData": { + "created": "2024-06-11T21:24:23.290043Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acetyl_CoA_carboxylase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acetyl_CoA_carboxylase_deficiency_patient_1.json new file mode 100644 index 000000000..a7dc4fb99 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acetyl_CoA_carboxylase_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "acetyl-coa_carboxylase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613933", + "label": "Acetyl-CoA carboxylase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-12T01:41:08.470941Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acetyl_Coa_acetyltransferase_2_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acetyl_Coa_acetyltransferase_2_deficiency_patient_1.json new file mode 100644 index 000000000..8ae408d94 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acetyl_Coa_acetyltransferase_2_deficiency_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "acetyl-coa_acetyltransferase-2_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002151", + "label": "Increased circulating lactate concentration" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614055", + "label": "Acetyl-Coa acetyltransferase-2 deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T23:20:50.232356Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acetylation_slow_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acetylation_slow_patient_1.json new file mode 100644 index 000000000..b38f3f8c3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acetylation_slow_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "acetylation,_slow", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001939", + "label": "Abnormality of metabolism/homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:243400", + "label": "Acetylation, slow" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:04.649398Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Achalasia_Addisonianism_Alacrima_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achalasia_Addisonianism_Alacrima_syndrome_patient_1.json new file mode 100644 index 000000000..936982069 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achalasia_Addisonianism_Alacrima_syndrome_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "achalasia-addisonianism-alacrima_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0008207", + "label": "Primary adrenal insufficiency" + } + }, + { + "type": { + "id": "HP:0000522", + "label": "Alacrima" + } + }, + { + "type": { + "id": "HP:0002571", + "label": "Achalasia" + } + }, + { + "type": { + "id": "HP:0011737", + "label": "Corticotropin-releasing hormone deficient adrenal insufficiency" + } + }, + { + "type": { + "id": "HP:0005341", + "label": "Autonomic bladder dysfunction" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:231550", + "label": "Achalasia-Addisonianism-Alacrima syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:48:15.895648Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Achalasia_Microcephaly_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achalasia_Microcephaly_syndrome_patient_1.json new file mode 100644 index 000000000..d4aaa07bf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achalasia_Microcephaly_syndrome_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "achalasia-microcephaly_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002571", + "label": "Achalasia" + } + }, + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:200450", + "label": "Achalasia-Microcephaly syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:11:05.775511Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Achalasia_familial_esophageal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achalasia_familial_esophageal_patient_1.json new file mode 100644 index 000000000..ee73e9d9f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achalasia_familial_esophageal_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "achalasia,_familial_esophageal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000217", + "label": "Xerostomia" + } + }, + { + "type": { + "id": "HP:0005681", + "label": "Juvenile rheumatoid arthritis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:200400", + "label": "Achalasia, familial esophageal" + } + } + ], + "metaData": { + "created": "2024-06-12T02:22:20.637750Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Achard_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achard_syndrome_patient_1.json new file mode 100644 index 000000000..fc3148ad7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achard_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "achard_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:100700", + "label": "Achard syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T17:51:37.685500Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acheiropody_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acheiropody_patient_1.json new file mode 100644 index 000000000..a263d59f2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acheiropody_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "acheiropody", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005632", + "label": "Absent forearm" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0005916", + "label": "Abnormal metacarpal morphology" + } + }, + { + "type": { + "id": "HP:0100379", + "label": "Aplasia of the distal phalanx of the 4th toe" + } + }, + { + "type": { + "id": "HP:0010104", + "label": "Absent first metatarsal" + } + }, + { + "type": { + "id": "HP:0006501", + "label": "Aplasia/Hypoplasia of the radius" + } + }, + { + "type": { + "id": "HP:0006379", + "label": "Proximal tibial hypoplasia" + } + }, + { + "type": { + "id": "HP:0001167", + "label": "Abnormal finger morphology" + } + }, + { + "type": { + "id": "HP:0009820", + "label": "Lower limb peromelia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:200500", + "label": "Acheiropody" + } + } + ], + "metaData": { + "created": "2024-06-11T22:02:09.215151Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Achondrogenesis_type_IA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achondrogenesis_type_IA_patient_1.json new file mode 100644 index 000000000..be9d1a65a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achondrogenesis_type_IA_patient_1.json @@ 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"type": { + "id": "HP:0009815", + "label": "Aplasia/hypoplasia of the extremities" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:200600", + "label": "Achondrogenesis, type IA" + } + } + ], + "metaData": { + "created": "2024-06-11T23:35:52.205576Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Achondrogenesis_type_IB_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achondrogenesis_type_IB_patient_1.json new file mode 100644 index 000000000..2f6f91f52 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achondrogenesis_type_IB_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "achondrogenesis,_type_ib", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001537", + "label": "Umbilical hernia" + } + }, + { + "type": { + "id": "HP:0001623", + "label": "Breech presentation" + } + }, + { + "type": { + "id": "HP:0002983", + "label": "Micromelia" + } + }, + { + "type": { + "id": "HP:0000969", + "label": "Edema" + } + }, + { + "type": { + "id": "HP:0002093", + "label": "Respiratory insufficiency" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600972", + "label": "Achondrogenesis, type IB" + } + } + ], + "metaData": { + "created": "2024-06-12T01:24:20.299145Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", 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"id": "HP:0003026", + "label": "Short long bone" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + }, + { + "type": { + "id": "HP:0000557", + "label": "Buphthalmos" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0000244", + "label": "Brachyturricephaly" + } + }, + { + "type": { + "id": "HP:0001538", + "label": "Protuberant abdomen" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:200610", + "label": "Achondrogenesis, type II" + } + } + ], + "metaData": { + "created": "2024-06-11T23:25:21.196777Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Achondroplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achondroplasia_patient_1.json new file mode 100644 index 000000000..c11fd5a2a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achondroplasia_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "achondroplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003031", + "label": "Ulnar bowing" + } + }, + { + "type": { + "id": "HP:0002089", + "label": "Pulmonary hypoplasia" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + }, + { + "type": { + "id": "HP:0005100", + "label": "Premature birth following premature rupture of fetal membranes" + } + }, + { + "type": { + "id": "HP:0003416", + "label": "Spinal canal stenosis" + } + }, + { + "type": { + "id": "HP:0012717", + "label": "Severe conductive hearing impairment" + } + }, + { + "type": { + "id": "HP:0006882", + "label": "Severe hydrocephalus" + } + }, + { + "type": { + "id": "HP:0002938", + "label": "Lumbar hyperlordosis" + } + }, + { + "type": { + "id": "HP:0003097", + "label": "Short femur" + } + }, + { + "type": { + "id": "HP:0002761", + "label": "Generalized joint hypermobility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:100800", + "label": "Achondroplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T22:22:11.840333Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Achondroplasia_severe_with_developmental_delay_and_acanthosis_nigricans_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achondroplasia_severe_with_developmental_delay_and_acanthosis_nigricans_patient_1.json new file mode 100644 index 000000000..bbd679e07 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achondroplasia_severe_with_developmental_delay_and_acanthosis_nigricans_patient_1.json @@ -0,0 +1,243 @@ +{ + "id": "achondroplasia,_severe,_with_developmental_delay_and_acanthosis_nigricans", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0005752", + "label": "Flattened moderately deformed vertebrae" + } + }, + { + "type": { + "id": "HP:0003086", + "label": "Acromesomelia" + } + }, + { + "type": { + "id": "HP:0002020", + "label": "Gastroesophageal reflux" + } + }, + { + "type": { + "id": "HP:0031716", + "label": "Cyclic exotropia" + } + }, + { + "type": { + "id": "HP:0008504", + "label": "Moderate sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0003510", + "label": "Severe short stature" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0033424", + "label": "Pulmonary arterial hypertension with lack of acute response to NO challenge" + } + }, + { + "type": { + "id": "HP:0002938", + "label": "Lumbar hyperlordosis" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + }, + { + "type": { + "id": "HP:0000956", + "label": "Acanthosis nigricans" + } + }, + { + "type": { + "id": "HP:0034220", + "label": "Temporal lobe megalencephaly" + } + }, + { + "type": { + "id": "HP:0000309", + "label": "Abnormal midface morphology" + } + }, + { + "type": { + "id": "HP:0012700", + "label": "Abnormal large intestine physiology" + } + }, + { + "type": { + "id": "HP:0004488", + "label": "Macrocephaly at birth" + } + }, + { + "type": { + "id": "HP:0000260", + "label": "Wide anterior fontanel" + } + }, + { + "type": { + "id": "HP:0002992", + "label": "Abnormal tibia morphology" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0003276", + "label": "Pelvic bone exostoses" + } + }, + { + "type": { + "id": "HP:0006849", + "label": "Hypodysplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0010859", + "label": "Frank breech presentation" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0004885", + "label": "Episodic respiratory distress" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0032858", + "label": "Focal impaired awareness motor seizure with negative myoclonus" + } + }, + { + "type": { + "id": "HP:0032251", + "label": "Abnormal immune system morphology" + } + }, + { + "type": { + "id": "HP:0002011", + "label": "Morphological central nervous system abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616482", + "label": "Achondroplasia, severe, with developmental delay and acanthosis nigricans" + } + } + ], + "metaData": { + "created": "2024-06-11T23:14:17.765121Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Achondroplasia_so_called_and_severe_combined_immunodeficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achondroplasia_so_called_and_severe_combined_immunodeficiency_patient_1.json new file mode 100644 index 000000000..2220800ea --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achondroplasia_so_called_and_severe_combined_immunodeficiency_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "achondroplasia,_so-called,_and_severe_combined_immunodeficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004432", + "label": "Agammaglobulinemia" + } + }, + { + "type": { + "id": "HP:0004430", + "label": "Severe combined immunodeficiency" + } + }, + { + "type": { + "id": "HP:0000765", + "label": "Abnormal thorax morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:200900", + "label": "Achondroplasia, so-called, and 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achoo_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "achoo_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025096", + "label": "Paroxysmal sneezing" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:100820", + "label": "Achoo syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:57:51.323259Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Achromatopsia_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achromatopsia_2_patient_1.json new file mode 100644 index 000000000..dd5cf34d9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achromatopsia_2_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "achromatopsia_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030329", + "label": "Retinal thinning" + } + }, + { + "type": { + "id": "HP:0012047", + "label": "Hemeralopia" + } + }, + { + "type": { + "id": "HP:0030465", + "label": "Undetectable light-adapted electroretinogram" + } + }, + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + }, + { + "type": { + "id": "HP:0500041", + "label": "Myopic astigmatism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:216900", + "label": "Achromatopsia 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:19:33.781435Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Achromatopsia_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achromatopsia_3_patient_1.json new file mode 100644 index 000000000..59d3de071 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achromatopsia_3_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "achromatopsia_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011516", + "label": "Achromatopsia" + } + }, + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + }, + { + "type": { + "id": "HP:0001141", + "label": "Severely reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0007803", + "label": "Monochromacy" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0030515", + "label": "Moderately reduced visual acuity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:262300", + "label": "Achromatopsia 3" + } + } + ], + "metaData": { + "created": "2024-06-11T18:16:59.909500Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Achromatopsia_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achromatopsia_4_patient_1.json new file mode 100644 index 000000000..38d7f94a4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achromatopsia_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "achromatopsia_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011516", + "label": "Achromatopsia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613856", + "label": "Achromatopsia 4" + } + } + ], + "metaData": { + "created": "2024-06-11T23:05:17.171669Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Achromatopsia_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achromatopsia_7_patient_1.json new file mode 100644 index 000000000..62176b92e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Achromatopsia_7_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "achromatopsia_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616517", + "label": "Achromatopsia 7" + } + } + ], + "metaData": { + "created": "2024-06-11T17:45:12.428870Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acid_labile_subunit_deficiency_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acid_labile_subunit_deficiency_of_patient_1.json new file mode 100644 index 000000000..6c7880995 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acid_labile_subunit_deficiency_of_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "acid-labile_subunit,_deficiency_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001530", + "label": "Mild postnatal growth retardation" + } + }, + { + "type": { + "id": "HP:0003117", + "label": "Abnormal circulating hormone concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615961", + "label": "Acid-labile subunit, deficiency of" + } + } + ], + "metaData": { + "created": "2024-06-11T18:26:05.482561Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ackerman_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ackerman_syndrome_patient_1.json new file mode 100644 index 000000000..e0eba9906 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ackerman_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ackerman_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000679", + "label": "Taurodontia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:200970", + "label": "Ackerman syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:41.665197Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acne_inversa_familial_2_with_or_without_dowling_degos_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acne_inversa_familial_2_with_or_without_dowling_degos_disease_patient_1.json new file mode 100644 index 000000000..ebcda15dd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acne_inversa_familial_2_with_or_without_dowling_degos_disease_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "acne_inversa,_familial,_2,_with_or_without_dowling-degos_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040154", + "label": "Acne inversa" + } + }, + { + "type": { + "id": "HP:0100838", + "label": "Recurrent cutaneous abscess formation" + } + }, + { + "type": { + "id": "HP:0002860", + "label": "Squamous cell carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613736", + "label": "Acne inversa, familial, 2, with or without dowling-degos disease" + } + } + ], + "metaData": { + "created": "2024-06-11T18:46:46.695669Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acne_inversa_familial_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acne_inversa_familial_3_patient_1.json new file mode 100644 index 000000000..3589e6bb8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acne_inversa_familial_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "acne_inversa,_familial,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012322", + "label": "Perifolliculitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613737", + "label": "Acne inversa, familial, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T18:40:51.098085Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acne_inversa_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acne_inversa_familial_patient_1.json new file mode 100644 index 000000000..98b82d93f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acne_inversa_familial_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "acne_inversa,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000987", + "label": "Atypical scarring of skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:142690", + "label": "Acne inversa, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T18:28:41.759118Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acquired_angioedema_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acquired_angioedema_patient_1.json new file mode 100644 index 000000000..345978b38 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acquired_angioedema_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "acquired_angioedema", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100665", + "label": "Angioedema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300909", + "label": "Acquired angioedema" + } + } + ], + "metaData": { + "created": "2024-06-11T21:33:56.035737Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acrocallosal_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acrocallosal_syndrome_patient_1.json new file mode 100644 index 000000000..dce7eda33 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acrocallosal_syndrome_patient_1.json @@ -0,0 +1,189 @@ +{ + "id": "acrocallosal_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0000322", + "label": "Short philtrum" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0001182", + "label": "Tapered finger" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0000054", + "label": "Micropenis" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0001671", + "label": "Abnormal cardiac septum morphology" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0000233", + "label": "Thin vermilion border" + } + }, + { + "type": { + "id": "HP:0000364", + "label": "Hearing abnormality" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0006852", + "label": "Episodic generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0001641", + "label": "Abnormal pulmonary valve morphology" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0040194", + "label": "Increased head circumference" + } + }, + { + "type": { + "id": "HP:0010803", + "label": "Everted upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0006335", + "label": "Persistence of primary teeth" + } + }, + { + "type": { + "id": "HP:0100627", + "label": "Displacement of the urethral meatus" + } + }, + { + "type": { + "id": "HP:0000612", + "label": "Iris coloboma" + } + }, + { + "type": { + "id": "HP:0001098", + "label": "Abnormal fundus morphology" + } + }, + { + "type": { + "id": "HP:0002060", + "label": "Abnormal cerebral morphology" + } + }, + { + "type": { + "id": "HP:0002342", + "label": "Intellectual disability, moderate" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:200990", + "label": "Acrocallosal syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:38:28.233914Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acrocapitofemoral_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acrocapitofemoral_dysplasia_patient_1.json new file mode 100644 index 000000000..163bc3f31 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acrocapitofemoral_dysplasia_patient_1.json @@ -0,0 +1,248 @@ +{ + "id": "acrocapitofemoral_dysplasia", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P4Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003097", + "label": "Short femur" + } + }, + { + "type": { + "id": "HP:0006059", + "label": "Cone-shaped metacarpal epiphyses" + } + }, + { + "type": { + "id": "HP:0010575", + "label": "Dysplasia of the femoral head" + } + }, + { + "type": { + "id": "HP:0002869", + "label": "Flared iliac wing" + } + }, + { + "type": { + "id": "HP:0001799", + "label": "Short nail" + } + }, + { + "type": { + "id": "HP:0002866", + "label": "Hypoplastic iliac wing" + } + }, + { + "type": { + "id": "HP:0100864", + "label": 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"https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acromegaloid_facial_appearance_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acromegaloid_facial_appearance_syndrome_patient_1.json new file mode 100644 index 000000000..6da591e68 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acromegaloid_facial_appearance_syndrome_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "acromegaloid_facial_appearance_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001176", + "label": "Large hands" + } + }, + { + "type": { + "id": "HP:0002684", + "label": "Thickened calvaria" + } + }, + { + "type": { + "id": "HP:0010047", + "label": "Short 5th metacarpal" + } + }, + { + "type": { + "id": "HP:0000506", + "label": "Telecanthus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:102150", + "label": "Acromegaloid facial appearance syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:23:05.511461Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acromelic_frontonasal_dysostosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acromelic_frontonasal_dysostosis_patient_1.json new file mode 100644 index 000000000..561cfb5c0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acromelic_frontonasal_dysostosis_patient_1.json @@ -0,0 +1,159 @@ +{ + "id": "acromelic_frontonasal_dysostosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003065", + "label": "Patellar hypoplasia" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0025706", + "label": "Absent fetal nasal bone" + } + }, + { + "type": { + "id": "HP:0032466", + "label": "Aplasia of the olfactory bulb" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0000248", + "label": "Brachycephaly" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0004987", + "label": "Mesomelic leg shortening" + } + }, + { + "type": { + "id": "HP:0007968", + "label": "Remnants of the hyaloid vascular system" + } + }, + { + "type": { + "id": "HP:0000455", + "label": "Broad nasal tip" + } + }, + { + "type": { + "id": "HP:0002282", + "label": "Gray matter heterotopia" + } + }, + { + "type": { + "id": "HP:0005736", + "label": "Short tibia" + } + }, + { + "type": { + "id": "HP:0001841", + "label": "Preaxial foot polydactyly" + } + }, + { + "type": { + "id": "HP:0001159", + "label": "Syndactyly" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0001331", + "label": "Absent septum pellucidum" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0010559", + "label": "Vertical clivus" + } + }, + { + "type": { + "id": "HP:0034014", + "label": "Tubulonodular pericallosal lipoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603671", + "label": "Acromelic frontonasal dysostosis" + } + } + ], + "metaData": 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"label": "Ulnar bowing" + } + }, + { + "type": { + "id": "HP:0002943", + "label": "Thoracic scoliosis" + } + }, + { + "type": { + "id": "HP:0003015", + "label": "Flared metaphysis" + } + }, + { + "type": { + "id": "HP:0003890", + "label": "Prominent deltoid tuberosities" + } + }, + { + "type": { + "id": "HP:0000884", + "label": "Prominent sternum" + } + }, + { + "type": { + "id": "HP:0002230", + "label": "Generalized hirsutism" + } + }, + { + "type": { + "id": "HP:0100531", + "label": "Wind-swept deformity of the knees" + } + }, + { + "type": { + "id": "HP:0005622", + "label": "Broad long bones" + } + }, + { + "type": { + "id": "HP:0003498", + "label": "Disproportionate short stature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619636", + "label": "Acromesomelic dysplasia 4" + } + } + ], + "metaData": { + "created": "2024-06-11T18:36:49.849588Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acromesomelic_dysplasia_Demirhan_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acromesomelic_dysplasia_Demirhan_type_patient_1.json new file mode 100644 index 000000000..1925844d1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acromesomelic_dysplasia_Demirhan_type_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "acromesomelic_dysplasia,_demirhan_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000815", + "label": "Hypergonadotropic hypogonadism" + } + }, + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + } + }, + { + "type": { + "id": "HP:0000786", + "label": "Primary amenorrhea" + } + }, + { + "type": { + "id": "HP:0003022", + "label": "Hypoplasia of the ulna" + } + }, + { + "type": { + "id": "HP:0100864", + "label": "Short femoral neck" + } + }, + { + "type": { + "id": "HP:0008368", + "label": "Tarsal synostosis" + } + }, + { + "type": { + "id": "HP:0010034", + "label": "Short 1st metacarpal" + } + }, + { + "type": { + "id": "HP:0001769", + "label": "Broad foot" + } + }, + { + "type": { + "id": "HP:0009596", + "label": "Aplasia of the proximal phalanx of the 2nd finger" + } + }, + { + "type": { + "id": "HP:0009466", + "label": "Radial deviation of finger" + } + }, + { + "type": { + "id": "HP:0009803", + "label": "Short phalanx of finger" + } + }, + { + "type": { + "id": "HP:0009702", + "label": "Carpal synostosis" + } + }, + { + "type": { + "id": "HP:0005832", + "label": "Dysharmonic delayed bone age" + } + }, + { + "type": { + "id": "HP:0006494", + "label": "Aplasia/Hypoplasia involving bones of the feet" + } + }, + { + "type": { + "id": "HP:0005028", + "label": "Widened proximal tibial metaphyses" + } + }, + { + "type": { + "id": "HP:0011969", + "label": "Elevated circulating luteinizing hormone level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609441", + "label": "Acromesomelic dysplasia, Demirhan type" + } + } + ], + "metaData": { + "created": "2024-06-11T19:42:06.239327Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acromesomelic_dysplasia_Hunter_Thompson_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acromesomelic_dysplasia_Hunter_Thompson_type_patient_1.json new file mode 100644 index 000000000..ce374db71 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acromesomelic_dysplasia_Hunter_Thompson_type_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "acromesomelic_dysplasia,_hunter-thompson_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000954", + "label": "Single transverse palmar crease" + } + }, + { + "type": { + "id": "HP:0003038", + "label": "Fibular hypoplasia" + } + }, + { + "type": { + "id": "HP:0001773", + "label": "Short foot" + } + }, + { + "type": { + "id": "HP:0003042", + "label": "Elbow dislocation" + } + }, + { + "type": { + "id": "HP:0006503", + "label": "Aplasia/hypoplasia involving forearm bones" + } + }, + { + "type": { + "id": "HP:0006011", + "label": "Cuboidal metacarpal" + } + }, + { + "type": { + "id": "HP:0008780", + "label": "Congenital bilateral hip dislocation" + } + }, + { + "type": { + "id": "HP:0002973", + "label": "Abnormal forearm morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:201250", + "label": "Acromesomelic dysplasia, Hunter-Thompson type" + } + } + ], + "metaData": { + "created": "2024-06-11T23:33:12.631702Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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hyperlordosis" + } + }, + { + "type": { + "id": "HP:0004633", + "label": "Lower thoracic kyphosis" + } + }, + { + "type": { + "id": "HP:0040072", + "label": "Abnormal forearm bone morphology" + } + }, + { + "type": { + "id": "HP:0004704", + "label": "Short fifth metatarsal" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602875", + "label": "Acromesomelic dysplasia, Maroteaux type" + } + } + ], + "metaData": { + "created": "2024-06-11T22:30:12.814339Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acromial_dimples_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acromial_dimples_patient_1.json new file mode 100644 index 000000000..6e1febc23 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acromial_dimples_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "acromial_dimples", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000951", + "label": "Abnormality of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:102350", + "label": "Acromial dimples" + } + } + ], + "metaData": { + "created": "2024-06-11T22:05:40.689382Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acromicric_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acromicric_dysplasia_patient_1.json new file mode 100644 index 000000000..068e9f641 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acromicric_dysplasia_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "acromicric_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000160", + "label": "Narrow mouth" + } + }, + { + "type": { + "id": "HP:0001609", + "label": "Hoarse voice" + } + }, + { + "type": { + "id": "HP:0003300", + "label": "Ovoid vertebral bodies" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0011314", + "label": "Abnormal long bone morphology" + } + }, + { + "type": { + "id": "HP:0010013", + "label": "Abnormal 5th metacarpal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:102370", + "label": "Acromicric dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T20:24:05.250687Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acropectoral_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acropectoral_syndrome_patient_1.json new file mode 100644 index 000000000..e0df4eeae --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acropectoral_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "acropectoral_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001199", + "label": "Triphalangeal thumb" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605967", + "label": "Acropectoral syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:07:07.284458Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acrorenal_Mandibular_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acrorenal_Mandibular_syndrome_patient_1.json new file mode 100644 index 000000000..b34cdd4d7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acrorenal_Mandibular_syndrome_patient_1.json @@ -0,0 +1,201 @@ +{ + "id": "acrorenal-mandibular_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000883", + "label": "Thin ribs" + } + }, + { + "type": { + "id": "HP:0006426", + "label": "Rudimentary to absent tibiae" + } + }, + { + "type": { + "id": "HP:0031909", + "label": "Unicornuate uterus" + } + }, + { + "type": { + "id": "HP:0001562", + "label": "Oligohydramnios" + } + }, + { + "type": { + "id": "HP:0001839", + "label": "Split foot" + } + }, + { + "type": { + "id": "HP:0002937", + "label": "Hemivertebrae" + } + }, + { + "type": { + "id": "HP:0002751", + "label": "Kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0002561", + "label": "Absent nipple" + } + }, + { + "type": { + "id": "HP:0000813", + "label": "Bicornuate uterus" + } + }, + { + "type": { + "id": "HP:0003762", + "label": "Uterus didelphys" + } + }, + { + "type": { + "id": "HP:0000113", + "label": "Polycystic kidney dysplasia" + } + }, + { + "type": { + "id": "HP:0000069", + "label": "Abnormality of the ureter" + } + }, + { + "type": { + "id": "HP:0000286", + "label": "Epicanthus" + } + }, + { + "type": { + "id": "HP:0000358", + "label": "Posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + }, + { + "type": { + "id": "HP:0001171", + "label": "Split hand" + } + }, + { + "type": { + "id": "HP:0000189", + "label": "Narrow palate" + } + }, + { + "type": { + "id": "HP:0001161", + "label": "Hand polydactyly" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0000921", + "label": "Missing ribs" + } + }, + { + "type": { + "id": "HP:0001829", + "label": "Foot polydactyly" + } + }, + { + "type": { + "id": "HP:0002987", + "label": "Elbow flexion contracture" + } + }, + { + "type": { + "id": "HP:0008780", + "label": "Congenital bilateral hip dislocation" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + }, + { + "type": { + "id": "HP:0000782", + "label": "Abnormal scapula morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:200980", + "label": "Acrorenal-Mandibular syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:21:59.200644Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acrorenal_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acrorenal_syndrome_patient_1.json new file mode 100644 index 000000000..5caacfeaa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acrorenal_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "acrorenal_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009380", + "label": "Finger aplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:102520", + "label": "Acrorenal syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:30:28.326411Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acth_deficiency_isolated_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acth_deficiency_isolated_patient_1.json new file mode 100644 index 000000000..f99695c5c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acth_deficiency_isolated_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "acth_deficiency,_isolated", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000952", + "label": "Jaundice" + } + }, + { + "type": { + "id": "HP:0006566", + "label": "Neonatal cholestatic liver disease" + } + }, + { + "type": { + "id": "HP:0011748", + "label": "Adrenocorticotropic hormone deficiency" + } + }, + { + "type": { + "id": "HP:0011014", + "label": "Abnormal glucose homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:201400", + "label": "Acth deficiency, isolated" + } + } + ], + "metaData": { + "created": "2024-06-11T20:23:01.202267Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Actinic_prurigo_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Actinic_prurigo_patient_1.json new file mode 100644 index 000000000..6efd0767f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Actinic_prurigo_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "actinic_prurigo", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000099", + "label": "Glomerulonephritis" + } + }, + { + "type": { + "id": "HP:0000992", + "label": "Cutaneous photosensitivity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:174770", + "label": "Actinic prurigo" + } + } + ], + "metaData": { + "created": "2024-06-11T21:41:06.692103Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acute_promyelocytic_leukemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acute_promyelocytic_leukemia_patient_1.json new file mode 100644 index 000000000..c79472776 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acute_promyelocytic_leukemia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "acute_promyelocytic_leukemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012135", + "label": "Abnormal granulocytopoietic cell morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612376", + "label": "Acute promyelocytic leukemia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:16:41.733782Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acyl_Coa_dehydrogenase_medium_chain_deficiency_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acyl_Coa_dehydrogenase_medium_chain_deficiency_of_patient_1.json new file mode 100644 index 000000000..99a5bf39b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acyl_Coa_dehydrogenase_medium_chain_deficiency_of_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "acyl-coa_dehydrogenase,_medium-chain,_deficiency_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001942", + "label": "Metabolic acidosis" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0003808", + "label": "Abnormal muscle tone" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0031980", + "label": "Abnormal urine carboxylic acid level" + } + }, + { + "type": { + "id": "HP:0000969", + "label": "Edema" + } + }, + { + "type": { + "id": "HP:0011014", + "label": "Abnormal glucose homeostasis" + } + }, + { + "type": { + "id": "HP:0034684", + "label": "Abnormal enzyme concentration or activity" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:6000231", + "label": "Abnormal tissue enzyme concentration or activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:201450", + "label": "Acyl-Coa dehydrogenase, medium-chain, deficiency of" + } + } + ], + "metaData": { + "created": "2024-06-11T22:50:03.937842Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Acyl_Coa_dehydrogenase_short_chain_deficiency_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acyl_Coa_dehydrogenase_short_chain_deficiency_of_patient_1.json new file mode 100644 index 000000000..e54cb055e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Acyl_Coa_dehydrogenase_short_chain_deficiency_of_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "acyl-coa_dehydrogenase,_short-chain,_deficiency_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0002500", + "label": "Abnormal cerebral white matter morphology" + } + }, + { + "type": { + "id": "HP:0007256", + "label": "Abnormal pyramidal sign" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0002751", + "label": "Kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0004911", + "label": "Episodic metabolic acidosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:201470", + "label": "Acyl-Coa dehydrogenase, short-chain, deficiency of" + } + } + ], + "metaData": { + "created": "2024-06-11T17:59:07.650265Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Adactylia_unilateral_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adactylia_unilateral_patient_1.json new file mode 100644 index 000000000..6626bb291 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adactylia_unilateral_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "adactylia,_unilateral", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001597", + "label": "Abnormality of the nail" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:102650", + "label": "Adactylia, unilateral" + } + } + ], + "metaData": { + "created": "2024-06-11T22:48:43.885347Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Adamantinoma_of_long_bones_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adamantinoma_of_long_bones_patient_1.json new file mode 100644 index 000000000..e65fca6bc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adamantinoma_of_long_bones_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "adamantinoma_of_long_bones", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002664", + "label": "Neoplasm" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:102660", + "label": "Adamantinoma of long bones" + } + } + ], + "metaData": { + "created": "2024-06-11T19:02:37.426091Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Adams_Oliver_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adams_Oliver_syndrome_1_patient_1.json new file mode 100644 index 000000000..7fc7b7b5b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adams_Oliver_syndrome_1_patient_1.json @@ -0,0 +1,153 @@ +{ + "id": "adams-oliver_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001770", + "label": "Toe syndactyly" + } + }, + { + "type": { + "id": "HP:0001650", + "label": "Aortic valve stenosis" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + } + }, + { + "type": { + "id": "HP:0004415", + "label": "Pulmonary artery stenosis" + } + }, + { + "type": { + "id": "HP:0000822", + "label": "Hypertension" + } + }, + { + "type": { + "id": "HP:0000565", + "label": "Esotropia" + } + }, + { + "type": { + "id": "HP:0002558", + "label": "Supernumerary nipple" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0007590", + "label": "Aplasia cutis congenita over posterior parietal area" + } + }, + { + "type": { + "id": "HP:0030011", + "label": "Imperforate hymen" + } + }, + { + "type": { + "id": "HP:0001636", + "label": "Tetralogy of Fallot" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0004383", + "label": "Hypoplastic left heart" + } + }, + { + "type": { + "id": "HP:0011567", + "label": "Sinus venosus atrial septal defect" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:100300", + "label": "Adams-Oliver syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:22:04.767292Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Adams_Oliver_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adams_Oliver_syndrome_2_patient_1.json new file mode 100644 index 000000000..078b026d7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adams_Oliver_syndrome_2_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "adams-oliver_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008936", + "label": "Axial hypotonia" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0002059", + "label": "Cerebral atrophy" + } + }, + { + "type": { + "id": "HP:0001558", + "label": "Decreased fetal movement" + } + }, + { + "type": { + "id": "HP:0001596", + "label": "Alopecia" + } + }, + { + "type": { + "id": "HP:0001562", + "label": "Oligohydramnios" + } + }, + { + "type": { + "id": "HP:0005819", + "label": "Short middle phalanx of finger" + } + }, + { + "type": { + "id": "HP:0002509", + "label": "Limb hypertonia" + } + }, + { + "type": { + "id": "HP:0001321", + "label": "Cerebellar hypoplasia" + } + }, + { + "type": { + "id": "HP:0006956", + "label": "Lateral ventricle dilatation" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0001167", + "label": "Abnormal finger morphology" + } + }, + { + "type": { + "id": "HP:0012758", + "label": "Neurodevelopmental delay" + } + }, + { + "type": { + "id": "HP:0031775", + "label": "Neurogenic strabismus" + } + }, + { + "type": { + "id": "HP:0011355", + "label": "Localized skin lesion" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614219", + "label": "Adams-Oliver syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:08:29.211808Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Adams_Oliver_syndrome_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adams_Oliver_syndrome_3_patient_1.json new file mode 100644 index 000000000..ab4a6e7d3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adams_Oliver_syndrome_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "adams-oliver_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614814", + "label": "Adams-Oliver syndrome 3" + } + } + ], + "metaData": { + "created": "2024-06-11T21:23:28.121457Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": 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middle phalanx of the 3rd toe" + } + }, + { + "type": { + "id": "HP:0010445", + "label": "Primum atrial septal defect" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0100797", + "label": "Toenail dysplasia" + } + }, + { + "type": { + "id": "HP:0011625", + "label": "Multiple muscular ventricular septal defects" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0011603", + "label": "Congenital malformation of the great arteries" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615297", + "label": "Adams-Oliver syndrome 4" + } + } + ], + "metaData": { + "created": "2024-06-11T19:47:57.601986Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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"HP:0001655", + "label": "Patent foramen ovale" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0007589", + "label": "Aplasia cutis congenita on trunk or limbs" + } + }, + { + "type": { + "id": "HP:0020207", + "label": "Reflex seizure" + } + }, + { + "type": { + "id": "HP:0001667", + "label": "Right ventricular hypertrophy" + } + }, + { + "type": { + "id": "HP:0033522", + "label": "Cerebral cavernous malformation" + } + }, + { + "type": { + "id": "HP:0011937", + "label": "Hypoplastic fifth toenail" + } + }, + { + "type": { + "id": "HP:0012555", + "label": "Absent nail of hallux" + } + }, + { + "type": { + "id": "HP:0008404", + "label": "Nail dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616028", + "label": "Adams-Oliver syndrome 5" + } + } + ], + "metaData": { + "created": "2024-06-11T21:02:10.378179Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": 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"HP:0009373", + "label": "Type C brachydactyly" + } + }, + { + "type": { + "id": "HP:0001057", + "label": "Aplasia cutis congenita" + } + }, + { + "type": { + "id": "HP:0001409", + "label": "Portal hypertension" + } + }, + { + "type": { + "id": "HP:0000965", + "label": "Cutis marmorata" + } + }, + { + "type": { + "id": "HP:0200054", + "label": "Foot monodactyly" + } + }, + { + "type": { + "id": "HP:0011937", + "label": "Hypoplastic fifth toenail" + } + }, + { + "type": { + "id": "HP:0001362", + "label": "Calvarial skull defect" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616589", + "label": "Adams-Oliver syndrome 6" + } + } + ], + "metaData": { + "created": "2024-06-11T20:07:11.721103Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Adducted_thumbs_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adducted_thumbs_syndrome_patient_1.json new file mode 100644 index 000000000..dba00afe7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adducted_thumbs_syndrome_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "adducted_thumbs_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011819", + "label": "Submucous cleft soft palate" + } + }, + { + "type": { + "id": "HP:0001363", + "label": "Craniosynostosis" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0000220", + "label": "Velopharyngeal insufficiency" + } + }, + { + "type": { + "id": "HP:0002804", + "label": "Arthrogryposis multiplex congenita" + } + }, + { + "type": { + "id": "HP:0005346", + "label": "Abnormal facial expression" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0000163", + "label": "Abnormal oral cavity morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:201550", + "label": "Adducted thumbs syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:33:03.309463Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Adenine_phosphoribosyltransferase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adenine_phosphoribosyltransferase_deficiency_patient_1.json new file mode 100644 index 000000000..907a1c465 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adenine_phosphoribosyltransferase_deficiency_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "adenine_phosphoribosyltransferase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034279", + "label": "2,8-dihydroxyadenine crystalluria" + } + }, + { + "type": { + "id": "HP:0000790", + "label": "Hematuria" + } + }, + { + "type": { + "id": "HP:0001941", + "label": "Acidosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614723", + "label": "Adenine phosphoribosyltransferase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T23:40:02.899926Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Adenomatous_polyposis_coli_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adenomatous_polyposis_coli_patient_1.json new file mode 100644 index 000000000..7628b5261 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adenomatous_polyposis_coli_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "adenomatous_polyposis_coli", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007649", + "label": "Congenital hypertrophy of retinal pigment epithelium" + } + }, + { + "type": { + "id": "HP:0000670", + "label": "Carious teeth" + } + }, + { + "type": { + "id": "HP:0001012", + "label": "Multiple lipomas" + } + }, + { + "type": { + "id": "HP:0011068", + "label": "Odontoma" + } + }, + { + "type": { + "id": "HP:0010562", + "label": "Keloids" + } + }, + { + "type": { + "id": "HP:0005227", + "label": "Adenomatous colonic polyposis" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adrenal_hyperplasia_congenital_due_to_21_hydroxylase_deficiency_patient_1.json @@ -0,0 +1,92 @@ +{ + "id": "adrenal_hyperplasia,_congenital,_due_to_21-hydroxylase_deficiency", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P27Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000127", + "label": "Renal salt wasting" + } + }, + { + "type": { + "id": "HP:0001507", + "label": "Growth abnormality" + } + }, + { + "type": { + "id": "HP:0001954", + "label": "Recurrent fever" + } + }, + { + "type": { + "id": "HP:0000765", + "label": "Abnormal thorax morphology" + } + }, + { + "type": { + "id": "HP:0000771", + "label": "Gynecomastia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + }, + { + "type": { + "id": "HP:0001945", + "label": "Fever" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0000127", + "label": "Renal salt wasting" + } + }, + { + "type": { + "id": "HP:0000798", + "label": "Oligozoospermia" + } + }, + { + "type": { + "id": "HP:0000135", + "label": "Hypogonadism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300200", + "label": "Adrenal hypoplasia, congenital" + } + } + ], + "metaData": { + "created": "2024-06-11T23:19:35.285766Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Adrenal_hypoplasia_congenital_with_absent_pituitary_luteinizinghormone_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adrenal_hypoplasia_congenital_with_absent_pituitary_luteinizinghormone_patient_1.json new file mode 100644 index 000000000..d2ebee885 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adrenal_hypoplasia_congenital_with_absent_pituitary_luteinizinghormone_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "adrenal_hypoplasia,_congenital,_with_absent_pituitary_luteinizinghormone", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030344", + "label": "Decreased circulating luteinizing hormone level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:202150", + "label": "Adrenal hypoplasia, congenital, with absent pituitary luteinizinghormone" + } + } + ], + "metaData": { + "created": "2024-06-11T17:51:49.383412Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Adrenal_insufficiency_congenital_with_46XY_sex_reversal_partial_or_complete_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adrenal_insufficiency_congenital_with_46XY_sex_reversal_partial_or_complete_patient_1.json new file mode 100644 index 000000000..30cfd34ba --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adrenal_insufficiency_congenital_with_46XY_sex_reversal_partial_or_complete_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "adrenal_insufficiency,_congenital,_with_46xy_sex_reversal,_partial_or_complete", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011741", + "label": "Secondary hyperaldosteronism" + } + }, + { + "type": { + "id": "HP:0000953", + "label": "Hyperpigmentation of the skin" + } + }, + { + "type": { + "id": "HP:0000127", + "label": "Renal salt wasting" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613743", + "label": "Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete" + } + } + ], + "metaData": { + "created": "2024-06-11T20:48:48.749640Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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{ + "type": { + "id": "HP:0030392", + "label": "Choroid plexus carcinoma" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:202300", + "label": "Adrenocortical carcinoma, pediatric" + } + } + ], + "metaData": { + "created": "2024-06-11T22:29:33.131392Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Adrenocortical_unresponsiveness_to_acth_with_postreceptor_defect_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adrenocortical_unresponsiveness_to_acth_with_postreceptor_defect_patient_1.json new file mode 100644 index 000000000..d8360bdbe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adrenocortical_unresponsiveness_to_acth_with_postreceptor_defect_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "adrenocortical_unresponsiveness_to_acth_with_postreceptor_defect", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003154", + "label": "Increased circulating ACTH level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:202355", + "label": "Adrenocortical unresponsiveness to acth with postreceptor defect" + } + } + ], + "metaData": { + "created": "2024-06-11T18:45:06.675216Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + 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"iso8601duration": "P34Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000802", + "label": "Impotence" + } + }, + { + "type": { + "id": "HP:0008207", + "label": "Primary adrenal insufficiency" + } + }, + { + "type": { + "id": "HP:0006938", + "label": "Impaired vibration sensation at ankles" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + }, + { + "type": { + "id": "HP:0002385", + "label": "Paraparesis" + } + }, + { + "type": { + "id": "HP:0001258", + "label": "Spastic paraplegia" + } + }, + { + "type": { + "id": "HP:0000618", + "label": "Blindness" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0002839", + "label": "Urinary bladder sphincter dysfunction" + } + }, + { + "type": { + "id": "HP:0001283", + "label": "Bulbar palsy" + } + }, + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + }, + { + "type": { + "id": "HP:0002293", + "label": "Alopecia of scalp" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + }, + { + "type": { + "id": "HP:0000044", + "label": "Hypogonadotropic hypogonadism" + } + }, + { + "type": { + "id": "HP:0005586", + "label": "Hyperpigmentation in sun-exposed areas" + } + }, + { + "type": { + "id": "HP:0001324", + "label": "Muscle weakness" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + }, + { + "type": { + "id": "HP:0002371", + "label": "Loss of speech" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300100", + "label": "Adrenoleukodystrophy" + } + } + ], + "metaData": { + "created": "2024-06-11T21:31:52.171749Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Adult_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adult_syndrome_patient_1.json new file mode 100644 index 000000000..dc09652ee --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Adult_syndrome_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "adult_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001803", + "label": "Nail pits" + } + }, + { + "type": { + "id": "HP:0002557", + "label": "Hypoplastic nipples" + } + }, + { + "type": { + "id": "HP:0007504", + "label": "Diffuse slow skin atrophy" + } + }, + { + "type": { + "id": "HP:0007455", + "label": "Adermatoglyphia" + } + }, + { + "type": { + "id": "HP:0002215", + "label": "Sparse axillary hair" + } + }, + { + "type": { + "id": "HP:0000958", + "label": "Dry skin" + } + }, + { + "type": { + "id": "HP:0001171", + "label": "Split hand" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + }, + { + "type": { + "id": "HP:0006483", + "label": "Abnormal number of teeth" + } + }, + { + "type": { + "id": "HP:0008065", + "label": "Aplasia/Hypoplasia of the skin" + } + }, + { + "type": { + "id": "HP:0001097", + "label": "Keratoconjunctivitis sicca" + } + }, + { + "type": { + "id": "HP:0002561", + "label": "Absent nipple" + } + }, + { + "type": { + "id": "HP:0004768", + "label": "Sparse anterior scalp hair" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:103285", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Advance_sleep_phase_syndrome_familial_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "advance_sleep_phase_syndrome,_familial,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031873", + "label": "Early chronotype" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620015", + "label": "Advance sleep phase syndrome, familial, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T20:57:36.853331Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Advanced_sleep_phase_syndrome_familial_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Advanced_sleep_phase_syndrome_familial_1_patient_1.json new file mode 100644 index 000000000..b3435aeda --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Advanced_sleep_phase_syndrome_familial_1_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "advanced_sleep_phase_syndrome,_familial,_1", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P12Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031873", + "label": "Early chronotype" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604348", + "label": "Advanced sleep phase syndrome, familial, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:13:06.473264Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Advanced_sleep_phase_syndrome_familial_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Advanced_sleep_phase_syndrome_familial_2_patient_1.json new file mode 100644 index 000000000..544ae1617 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Advanced_sleep_phase_syndrome_familial_2_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "advanced_sleep_phase_syndrome,_familial,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031873", + "label": "Early chronotype" + } + }, + { + "type": { + "id": "HP:0002076", + "label": "Migraine" + }, + "modifiers": [ + { + "id": "HP:0011010", + "label": "Chronic" + } + ] + }, + { + "type": { + "id": "HP:0002077", + "label": "Migraine with aura" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615224", + "label": "Advanced sleep phase syndrome, familial, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:22:02.259218Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Advanced_sleep_phase_syndrome_familial_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Advanced_sleep_phase_syndrome_familial_3_patient_1.json new file mode 100644 index 000000000..4971045c4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Advanced_sleep_phase_syndrome_familial_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "advanced_sleep_phase_syndrome,_familial,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031873", + "label": "Early chronotype" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616882", + "label": "Advanced sleep phase syndrome, familial, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T18:46:39.956310Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Afibrinogenemia_congenitalhypofibrinogenemia_congenital_included_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Afibrinogenemia_congenitalhypofibrinogenemia_congenital_included_patient_1.json new file mode 100644 index 000000000..b965c2866 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Afibrinogenemia_congenitalhypofibrinogenemia_congenital_included_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "afibrinogenemia,_congenitalhypofibrinogenemia,_congenital,_included", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000421", + "label": "Epistaxis" + } + }, + { + "type": { + "id": "HP:0030137", + "label": "Prolonged bleeding following circumcision" + } + }, + { + "type": { + "id": "HP:0000225", + "label": "Gingival bleeding" + } + }, + { + "type": { + "id": "HP:0006298", + "label": "Prolonged bleeding after dental extraction" + } + }, + { + "type": { + "id": "HP:0034287", + "label": "Afibrinogenemia" + } + }, + { + "type": { + "id": "HP:0100659", + "label": "Abnormal cerebral vascular morphology" + } + }, + { + "type": { + "id": "HP:0034264", + "label": "Postcoital vaginal bleeding" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:202400", + "label": 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--- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Agammaglobulinemia_10_autosomal_dominant_patient_1.json @@ -0,0 +1,74 @@ +{ + "id": "agammaglobulinemia_10,_autosomal_dominant", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P3Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002205", + "label": "Recurrent respiratory infections" + } + }, + { + "type": { + "id": "HP:0011108", + "label": "Recurrent sinusitis" + } + }, + { + "type": { + "id": "HP:0002850", + "label": "Decreased circulating total IgM" + } + }, + { + "type": { + "id": "HP:0002720", + "label": "Decreased circulating IgA level" + } + }, + { + "type": { + "id": "HP:0010701", + "label": "Abnormal immunoglobulin level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619707", + "label": "Agammaglobulinemia 10, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T21:18:55.068294Z", + "createdBy": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Agammaglobulinemia_2_autosomal_recessive_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "agammaglobulinemia_2,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002720", + "label": "Decreased circulating IgA level" + } + }, + { + "type": { + "id": "HP:0002850", + "label": "Decreased circulating total IgM" + } + }, + { + "type": { + "id": "HP:0033214", + "label": "Recurrent viral pneumonia" + } + }, + { + "type": { + "id": "HP:0032158", + "label": "Unusual infection by anatomical site" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613500", + "label": "Agammaglobulinemia 2, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T23:36:50.582289Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Agammaglobulinemia_4_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Agammaglobulinemia_4_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..02e91d7ce --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Agammaglobulinemia_4_autosomal_recessive_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "agammaglobulinemia_4,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100838", + "label": "Recurrent cutaneous abscess formation" + } + }, + { + "type": { + "id": "HP:0033214", + "label": "Recurrent viral pneumonia" + } + }, + { + "type": { + "id": "HP:0012647", + "label": "Abnormal inflammatory response" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613502", + "label": "Agammaglobulinemia 4, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-12T02:17:21.577952Z", + 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+{ + "id": "agammaglobulinemia_5,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613506", + "label": "Agammaglobulinemia 5, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T22:48:09.565387Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + 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newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Agammaglobulinemia_7_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Agammaglobulinemia_7_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..e22e84c77 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Agammaglobulinemia_7_autosomal_recessive_patient_1.json @@ -0,0 +1,74 @@ +{ + "id": "agammaglobulinemia_7,_autosomal_recessive", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P10Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004432", + "label": "Agammaglobulinemia" + } + }, + { + "type": { + "id": "HP:0003139", + "label": "Panhypogammaglobulinemia" + } + }, + { + "type": { + "id": "HP:0040218", + "label": "Reduced natural killer cell count" + } + }, + { + "type": { + "id": "HP:0002719", + "label": "Recurrent infections" + } + }, + { + "type": { 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Agammaglobulinemia_8B_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..258a8c19d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Agammaglobulinemia_8B_autosomal_recessive_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "agammaglobulinemia_8b,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004812", + "label": "B Acute Lymphoblastic Leukemia" + } + }, + { + "type": { + "id": "HP:0002028", + "label": "Chronic diarrhea" + } + }, + { + "type": { + "id": "HP:0002850", + "label": "Decreased circulating total IgM" + } + }, + { + "type": { + "id": "HP:0000396", + "label": "Overfolded helix" + } + }, + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0500266", + "label": "Decreased proportion of CD8-positive, alpha-beta TEMRA T cells" + } + }, + { + "type": { + "id": "HP:0010976", + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Agammaglobulinemia_9_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Agammaglobulinemia_9_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..130c4b89e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Agammaglobulinemia_9_autosomal_recessive_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "agammaglobulinemia_9,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001531", + "label": "Failure to thrive in infancy" + } + }, + { + "type": { + "id": "HP:0040088", + "label": "Abnormal lymphocyte count" + } + }, + { + "type": { + "id": "HP:0032101", + "label": "Unusual infection" + } + }, + { + "type": { + "id": "HP:0010701", + "label": "Abnormal immunoglobulin level" + } + }, + { + "type": { + "id": "HP:0033120", + "label": "Nummular eczema" + } + } + ], + "diseases": [ + { + "term": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Agammaglobulinemia_X_linked_patient_1.json @@ -0,0 +1,104 @@ +{ + "id": "agammaglobulinemia,_x-linked", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P27Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011108", + "label": "Recurrent sinusitis" + } + }, + { + "type": { + "id": "HP:0002783", + "label": "Recurrent lower respiratory tract infections" + } + }, + { + "type": { + "id": "HP:0010976", + "label": "B lymphocytopenia" + } + }, + { + "type": { + "id": "HP:0040187", + "label": "Neonatal sepsis" + } + }, + { + "type": { + "id": "HP:0004432", + "label": "Agammaglobulinemia" + } + }, + { + "type": { + "id": "HP:0032136", + "label": "Decreased circulating IgG1 level" + } + }, + { + "type": { + "id": "HP:0011991", + "label": "Abnormal neutrophil count" + } + }, + { + "type": { + "id": "HP:0002733", + "label": "Abnormal lymph node morphology" + } + }, + { + "type": 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diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aganglionosis_total_intestinal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aganglionosis_total_intestinal_patient_1.json new file mode 100644 index 000000000..9f9ec902b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aganglionosis_total_intestinal_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "aganglionosis,_total_intestinal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005241", + "label": "Total intestinal aganglionosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:202550", + "label": "Aganglionosis, total intestinal" + } + } + ], + "metaData": { + "created": "2024-06-11T19:20:08.889730Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alagille_syndrome_1_patient_1.json @@ -0,0 +1,291 @@ +{ + "id": "alagille_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008659", + "label": "Multiple small medullary renal cysts" + } + }, + { + "type": { + "id": "HP:0004969", + "label": "Peripheral pulmonary artery stenosis" + } + }, + { + "type": { + "id": "HP:0000400", + "label": "Macrotia" + } + }, + { + "type": { + "id": "HP:0002937", + "label": "Hemivertebrae" + } + }, + { + "type": { + "id": "HP:0006571", + "label": "Reduced number of intrahepatic bile ducts" + } + }, + { + "type": { + "id": "HP:0001636", + "label": "Tetralogy of Fallot" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0011344", + "label": "Severe global developmental delay" + } + }, + { + "type": { + "id": "HP:0000585", + "label": "Band keratopathy" + } + }, + { + "type": { + "id": 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"type": { + "id": "HP:0000436", + "label": "Abnormal nasal tip morphology" + } + }, + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + }, + { + "type": { + "id": "HP:0100568", + "label": "Neoplasm of the endocrine system" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0031616", + "label": "Anterior chamber flare" + } + }, + { + "type": { + "id": "HP:0001396", + "label": "Cholestasis" + } + }, + { + "type": { + "id": "HP:0000482", + "label": "Microcornea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:118450", + "label": "Alagille syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:26:46.166513Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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100644 index 000000000..91a9187a8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alar_cleft_isolated_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "alar_cleft,_isolated", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003191", + "label": "Cleft ala nasi" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614687", + "label": "Alar cleft, isolated" + } + } + ], + "metaData": { + "created": "2024-06-11T23:04:50.473145Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Alazami_Yuan_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alazami_Yuan_syndrome_patient_1.json new file mode 100644 index 000000000..b45c6244f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alazami_Yuan_syndrome_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "alazami-yuan_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0000448", + "label": "Prominent nose" + } + }, + { + "type": { + "id": "HP:0007740", + "label": "Long eyelashes in irregular rows" + } + }, + { + "type": { + "id": "HP:0000574", + "label": "Thick eyebrow" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alazami_syndrome_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "alazami_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0000490", + "label": "Deeply set eye" + } + }, + { + "type": { + "id": "HP:0000687", + "label": "Widely spaced teeth" + } + }, + { + "type": { + "id": "HP:0003510", + "label": "Severe short stature" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0045025", + "label": "Narrow palpebral fissure" + } + }, + { + "type": { + "id": "HP:0012471", + "label": "Thick vermilion border" + } + }, + { + "type": { + "id": "HP:0001518", + "label": "Small for gestational age" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615071", + "label": "Alazami syndrome" + } + } + ], + "metaData": { + "created": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_ocular_type_I_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_ocular_type_I_patient_1.json new file mode 100644 index 000000000..d76fef050 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_ocular_type_I_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "albinism,_ocular,_type_i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005592", + "label": "Giant melanosomes in melanocytes" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0001107", + "label": "Ocular albinism" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300500", + "label": "Albinism, ocular, type I" + } + } + ], + "metaData": { + "created": "2024-06-11T22:01:47.005103Z", + "createdBy": "phenotype2phenopacket", + "resources": 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"id": "albinism,_ocular,_with_late-onset_sensorineural_deafness", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P89Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005592", + "label": "Giant melanosomes in melanocytes" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300650", + "label": "Albinism, ocular, with late-onset sensorineural deafness" + } + } + ], + "metaData": { + "created": "2024-06-11T19:27:00.090357Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_IA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_IA_patient_1.json new file mode 100644 index 000000000..ce2cde061 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_IA_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "albinism,_oculocutaneous,_type_ia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011358", + "label": "Generalized hypopigmentation of hair" + } + }, + { + "type": { + "id": "HP:0500066", + "label": "Latent myopia" + } + }, + { + "type": { + "id": "HP:0007513", + "label": "Generalized hypopigmentation" + } + }, + { + "type": { + "id": "HP:0007542", + "label": "Absent pigmentation of the ventral chest" + } + }, + { + "type": { + "id": "HP:0001107", + "label": "Ocular albinism" + } + }, + { + "type": { + "id": "HP:0032009", + "label": "Infantile constant exotropia" + } + }, + { + "type": { + "id": "HP:0000529", + "label": "Progressive visual loss" + } + }, + { + "type": { + "id": "HP:0005599", + "label": "Hypopigmentation of hair" + } + }, + { + "type": { + "id": "HP:0000484", + "label": "Hyperopic astigmatism" + } + }, + { + "type": { + "id": "HP:0000635", + "label": "Blue irides" + } + }, + { + "type": { + "id": "HP:0000549", + "label": "Abnormal conjugate eye movement" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:203100", + "label": "Albinism, oculocutaneous, type IA" + } + } + ], + "metaData": { + "created": "2024-06-11T19:20:18.466372Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_IB_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_IB_patient_1.json new file mode 100644 index 000000000..17327ca37 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_IB_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "albinism,_oculocutaneous,_type_ib", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + } + }, + { + "type": { + "id": "HP:0001010", + "label": "Hypopigmentation of the skin" + } + }, + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + }, + { + "type": { + "id": "HP:0005599", + "label": "Hypopigmentation of hair" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606952", + "label": "Albinism, oculocutaneous, type IB" + } + } + ], + "metaData": { + "created": "2024-06-11T20:20:28.068290Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_III_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_III_patient_1.json new file mode 100644 index 000000000..f8e756f21 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_III_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "albinism,_oculocutaneous,_type_iii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002297", + "label": "Red hair" + } + }, + { + "type": { + "id": "HP:0001022", + "label": "Albinism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:203290", + "label": "Albinism, oculocutaneous, type III" + } + } + ], + "metaData": { + "created": "2024-06-11T22:48:20.793360Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_II_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_II_patient_1.json new file mode 100644 index 000000000..6fa06188b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_II_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "albinism,_oculocutaneous,_type_ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001010", + "label": "Hypopigmentation of the skin" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0000635", + "label": "Blue irides" + } + }, + { + "type": { + "id": "HP:0007750", + "label": "Hypoplasia of the fovea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:203200", + "label": "Albinism, oculocutaneous, type II" + } + } + ], + "metaData": { + "created": "2024-06-11T20:47:54.622870Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_IV_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_IV_patient_1.json new file mode 100644 index 000000000..3fec93ef6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_IV_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "albinism,_oculocutaneous,_type_iv", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000635", + "label": "Blue irides" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606574", + "label": "Albinism, oculocutaneous, type IV" + } + } + ], + "metaData": { + "created": "2024-06-11T20:41:09.914274Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_VI_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_VI_patient_1.json new file mode 100644 index 000000000..1e5f102d8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_VI_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "albinism,_oculocutaneous,_type_vi", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0002286", + "label": "Fair hair" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:113750", + "label": "Albinism, oculocutaneous, type VI" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:15.012836Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_V_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_V_patient_1.json new file mode 100644 index 000000000..d192f6522 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_V_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "albinism,_oculocutaneous,_type_v", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0000540", + "label": "Hypermetropia" + } + }, + { + "type": { + "id": "HP:0032009", + "label": "Infantile constant exotropia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615179", + "label": "Albinism, oculocutaneous, type V" + } + } + ], + "metaData": { + "created": "2024-06-11T18:49:16.933275Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_V_patient_2.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_V_patient_2.json new file mode 100644 index 000000000..403cdb176 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Albinism_oculocutaneous_type_V_patient_2.json @@ -0,0 +1,51 @@ +{ + "id": "albinism,_oculocutaneous,_type_v", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001022", + "label": "Albinism" + } + }, + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615312", + "label": "Albinism, oculocutaneous, type V" + } + } + ], + "metaData": { + "created": "2024-06-11T22:31:48.736512Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Alcohol_dependence_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alcohol_dependence_patient_1.json new file mode 100644 index 000000000..8c3a27f71 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alcohol_dependence_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "alcohol_dependence", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030955", + "label": "Addictive alcohol use" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:103780", + "label": "Alcohol dependence" + } + } + ], + "metaData": { + "created": "2024-06-11T18:43:37.312191Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Alcohol_sensitivity_acute_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alcohol_sensitivity_acute_patient_1.json new file mode 100644 index 000000000..9adf5b215 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alcohol_sensitivity_acute_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "alcohol_sensitivity,_acute", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001033", + "label": "Facial flushing after alcohol intake" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610251", + "label": "Alcohol sensitivity, acute" + } + } + ], + "metaData": { + "created": "2024-06-11T21:37:02.429271Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aldosteronism_glucocorticoid_remediable_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aldosteronism_glucocorticoid_remediable_patient_1.json new file mode 100644 index 000000000..d42d37b20 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aldosteronism_glucocorticoid_remediable_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "aldosteronism,_glucocorticoid-remediable", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000822", + "label": "Hypertension" + } + }, + { + "type": { + "id": "HP:0008221", + "label": "Adrenal hyperplasia" + } + }, + { + "type": { + "id": "HP:0000859", + "label": "Hyperaldosteronism" + } + }, + { + "type": { + "id": "HP:0003351", + "label": "Decreased circulating renin level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:103900", + "label": "Aldosteronism, glucocorticoid-remediable" + } + } + ], + "metaData": { + "created": "2024-06-11T19:35:11.379715Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Alexander_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alexander_disease_patient_1.json new file mode 100644 index 000000000..7286f9295 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alexander_disease_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "alexander_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004481", + "label": "Progressive macrocephaly" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0012378", + "label": "Fatigue" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:203450", + "label": "Alexander disease" + } + } + ], + "metaData": { + "created": "2024-06-12T00:30:31.355241Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Alfadhel_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alfadhel_syndrome_patient_1.json new file mode 100644 index 000000000..9e7bed8ab --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alfadhel_syndrome_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "alfadhel_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000325", + "label": "Triangular face" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0000278", + "label": "Retrognathia" + } + }, + { + "type": { + "id": "HP:0008936", + "label": "Axial hypotonia" + } + }, + { + "type": { + "id": "HP:0011346", + "label": "Mild expressive language delay" + } + }, + { + "type": { + "id": "HP:0006889", + "label": "Intellectual disability, borderline" + } + }, + { + "type": { + "id": "HP:0000348", + "label": "High forehead" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0033200", + "label": "Triceps hyporeflexia" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0045086", + "label": "Knee joint hypermobility" + } + }, + { + "type": { + "id": "HP:0000414", + "label": "Bulbous nose" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620655", + "label": "Alfadhel syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:49:22.571341Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Alkaptonuria_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alkaptonuria_patient_1.json new file mode 100644 index 000000000..030dda426 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alkaptonuria_patient_1.json @@ -0,0 +1,86 @@ +{ + "id": "alkaptonuria", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P53Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003419", + "label": "Low back pain" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0033704", + "label": "Elevated urinary homogentisic acid" + } + }, + { + "type": { + "id": "HP:0040319", + "label": "Dark urine" + } + }, + { + "type": { + "id": "HP:0025015", + "label": "Abnormal vascular morphology" + } + }, + { + "type": { + "id": "HP:0001717", + "label": "Coronary artery calcification" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:203500", + "label": "Alkaptonuria" + } + } + ], + "metaData": { + "created": "2024-06-11T17:51:59.195461Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Alkuraya_Kucinskas_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alkuraya_Kucinskas_syndrome_patient_1.json new file mode 100644 index 000000000..fe5663f6b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alkuraya_Kucinskas_syndrome_patient_1.json @@ -0,0 +1,255 @@ +{ + "id": "alkuraya-kucinskas_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001181", + "label": "Adducted thumb" + } + }, + { + "type": { + "id": "HP:0002282", + "label": "Gray matter heterotopia" + } + }, + { + "type": { + "id": "HP:0002705", + "label": "High, narrow palate" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0002365", + "label": "Hypoplasia of the brainstem" + } + }, + { + "type": { + "id": "HP:0001305", + "label": "Dandy-Walker malformation" + } + }, + { + "type": { + "id": "HP:0034392", + "label": "Joint contracture" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0000657", + "label": "Oculomotor apraxia" + } + }, + { + "type": { + "id": "HP:0100351", + "label": "Contractures of the proximal interphalangeal joint of the 5th toe" + } + }, + { + "type": { + "id": "HP:6000648", + "label": "3-4 toe cutaneous syndactyly" + } + }, + { + "type": { + "id": "HP:0006955", + "label": "Olivopontocerebellar hypoplasia" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0020185", + "label": "Superior cerebellar dysplasia" + } + }, + { + "type": { + "id": "HP:0025668", + "label": "Abnormal neck morphology" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:0000601", + "label": "Hypotelorism" + } + }, + { + "type": { + "id": "HP:0010557", + "label": 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{ + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + }, + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0003423", + "label": "Thoracolumbar kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0006915", + "label": "Inability to walk by childhood/adolescence" + } + }, + { + "type": { + "id": "HP:0100851", + "label": "Abnormal emotion" + } + }, + { + "type": { + "id": "HP:0012448", + "label": "Delayed myelination" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300523", + "label": "Allan-Herndon-Dudley syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:51:19.155485Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": 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--- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_Contractures_Dwarfism_mental_retardation_syndrome_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "alopecia-contractures-dwarfism_mental_retardation_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003510", + "label": "Severe short stature" + } + }, + { + "type": { + "id": "HP:0002265", + "label": "Large fleshy ears" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0006282", + "label": "Generalized hypoplasia of dental enamel" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:203550", + "label": "Alopecia-Contractures-Dwarfism mental retardation syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:58:55.322395Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_Mental_retardation_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_Mental_retardation_syndrome_1_patient_1.json new file mode 100644 index 000000000..2794936ea --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_Mental_retardation_syndrome_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "alopecia-mental_retardation_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:203650", + "label": "Alopecia-Mental retardation syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:54:07.487429Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_Mental_retardation_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_Mental_retardation_syndrome_2_patient_1.json new file mode 100644 index 000000000..0278bad1c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_Mental_retardation_syndrome_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "alopecia-mental_retardation_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610422", + "label": "Alopecia-Mental retardation syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:06:53.446548Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_Mental_retardation_syndrome_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_Mental_retardation_syndrome_3_patient_1.json new file mode 100644 index 000000000..4742bbdae --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_Mental_retardation_syndrome_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "alopecia-mental_retardation_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002289", + "label": "Alopecia universalis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613930", + "label": "Alopecia-Mental retardation syndrome 3" + } + } + ], + "metaData": { + "created": "2024-06-11T23:43:04.898971Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_androgenetic_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_androgenetic_1_patient_1.json new file mode 100644 index 000000000..80556bf60 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_androgenetic_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "alopecia,_androgenetic,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001596", + "label": "Alopecia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:109200", + "label": "Alopecia, androgenetic, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:01.522090Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_areata_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_areata_1_patient_1.json new file mode 100644 index 000000000..9980fac59 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_areata_1_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "alopecia_areata_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002960", + "label": "Autoimmunity" + } + }, + { + "type": { + "id": "HP:0030804", + "label": "Trachyonychia" + } + }, + { + "type": { + "id": "HP:0007418", + "label": "Alopecia totalis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:104000", + "label": "Alopecia areata 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:21:53.659420Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": 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"Alopecia universalis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610753", + "label": "Alopecia areata 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:37:53.953422Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_familial_focal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_familial_focal_patient_1.json new file mode 100644 index 000000000..a09f9f1f4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_familial_focal_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "alopecia,_familial_focal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002232", + "label": "Patchy alopecia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:104110", + "label": "Alopecia, familial focal" + } + } + ], + "metaData": { + "created": "2024-06-11T20:40:19.141957Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_mental_retardation_syndrome_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_mental_retardation_syndrome_4_patient_1.json new file mode 100644 index 000000000..2f3cae3ae --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_mental_retardation_syndrome_4_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "alopecia-mental_retardation_syndrome_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001596", + "label": "Alopecia" + } + }, + { + "type": { + "id": "HP:0000713", + "label": "Agitation" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001019", + "label": "Erythroderma" + } + }, + { + "type": { + "id": "HP:0008689", + "label": "Bilateral cryptorchidism" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618840", + "label": "Alopecia-mental retardation syndrome 4" + } + } + ], + "metaData": { + "created": "2024-06-11T18:17:50.486986Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_neurologic_defects_and_endocrinopathy_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_neurologic_defects_and_endocrinopathy_syndrome_patient_1.json new file mode 100644 index 000000000..41533b839 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_neurologic_defects_and_endocrinopathy_syndrome_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "alopecia,_neurologic_defects,_and_endocrinopathy_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003758", + "label": "Reduced subcutaneous adipose tissue" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0000044", + "label": "Hypogonadotropic hypogonadism" + } + }, + { + "type": { + "id": "HP:0007299", + "label": "Dysfunction of lateral corticospinal 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_universalis_congenita_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_universalis_congenita_patient_1.json new file mode 100644 index 000000000..1fd97b830 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alopecia_universalis_congenita_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "alopecia_universalis_congenita", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007646", + "label": "Absent lower eyelashes" + } + }, + { + "type": { + "id": "HP:0002555", + "label": "Absent pubic hair" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:203655", + "label": "Alopecia universalis congenita" + } + } + ], + "metaData": { + "created": "2024-06-11T23:27:28.438373Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": 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{ + "type": { + "id": "HP:0001394", + "label": "Cirrhosis" + } + }, + { + "type": { + "id": "HP:0012735", + "label": "Cough" + } + }, + { + "type": { + "id": "HP:0030169", + "label": "Gastric varix" + } + }, + { + "type": { + "id": "HP:0033709", + "label": "Increased sputum production" + } + }, + { + "type": { + "id": "HP:0001744", + "label": "Splenomegaly" + } + }, + { + "type": { + "id": "HP:0032025", + "label": "Reduced circulating alpha-1-antitrypsin concentration" + } + }, + { + "type": { + "id": "HP:0002105", + "label": "Hemoptysis" + } + }, + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0006510", + "label": "Chronic pulmonary obstruction" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613490", + "label": "Alpha-1-Antitrypsin deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T17:48:41.419297Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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{ + "type": { + "id": "HP:0001519", + "label": "Disproportionate tall stature" + } + }, + { + "type": { + "id": "HP:0001167", + "label": "Abnormal finger morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:203760", + "label": "Alpha-2-deficient collagen disease" + } + } + ], + "metaData": { + "created": "2024-06-11T19:34:53.049560Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Alpha_Fetoprotein_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alpha_Fetoprotein_deficiency_patient_1.json new file mode 100644 index 000000000..8fd5d5325 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alpha_Fetoprotein_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "alpha-fetoprotein_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0045057", + "label": "Decreased circulating alpha-fetoprotein concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615969", + "label": "Alpha-Fetoprotein deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T23:11:43.378070Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alpha_Thalassemia_mental_retardation_syndrome_X_linked_patient_1.json new file mode 100644 index 000000000..d857ca13e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alpha_Thalassemia_mental_retardation_syndrome_X_linked_patient_1.json @@ -0,0 +1,243 @@ +{ + "id": "alpha-thalassemia/mental_retardation_syndrome,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025429", + "label": "Abnormal cry" + } + }, + { + "type": { + "id": "HP:0011903", + "label": "HbH hemoglobin" + } + }, + { + "type": { + "id": "HP:0000126", + "label": "Hydronephrosis" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0030218", + "label": "Punding" + } + }, + { + "type": { + "id": "HP:0003423", + "label": "Thoracolumbar 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Alzheimer_disease_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alzheimer_disease_2_patient_1.json new file mode 100644 index 000000000..32fadfbfb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alzheimer_disease_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "alzheimer_disease_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000726", + "label": "Dementia" + } + }, + { + "type": { + "id": "HP:0002185", + "label": "Neurofibrillary tangles" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:104310", + "label": "Alzheimer disease 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:36:19.801324Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + 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"omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Alzheimer_disease_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alzheimer_disease_4_patient_1.json new file mode 100644 index 000000000..bfdd89c62 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alzheimer_disease_4_patient_1.json @@ -0,0 +1,74 @@ +{ + "id": "alzheimer_disease_4", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P60Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002511", + "label": "Alzheimer disease" + } + }, + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + } + }, + { + "type": { + "id": "HP:0002185", + "label": "Neurofibrillary tangles" + } + }, + { + "type": { + "id": "HP:0012662", + "label": "Parietal hypometabolism in FDG PET" + } + }, + { + "type": { + "id": "HP:0011970", + "label": "Cerebral amyloid angiopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606889", + "label": "Alzheimer disease 4" + } + } + ], + "metaData": { + "created": "2024-06-11T22:47:12.562157Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Alzheimer_disease_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alzheimer_disease_5_patient_1.json new file mode 100644 index 000000000..4b42901da --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alzheimer_disease_5_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "alzheimer_disease_5", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P89Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002511", + "label": "Alzheimer disease" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003584", + "label": "Late onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602096", + "label": "Alzheimer disease 5" + } + } + ], + "metaData": { + "created": "2024-06-11T22:19:04.344913Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Alzheimer_disease_9_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alzheimer_disease_9_susceptibility_to_patient_1.json new file mode 100644 index 000000000..a86891c7f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alzheimer_disease_9_susceptibility_to_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "alzheimer_disease_9,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000734", + "label": "Disinhibition" + } + }, + { + "type": { + "id": "HP:0100256", + "label": "Senile plaques" + } + }, + { + "type": { + "id": "HP:0000716", + "label": "Depression" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608907", + "label": "Alzheimer disease 9, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T22:46:11.412426Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Alzheimer_disease_familial_early_onset_with_coexisting_amyloid_and_prion_pathology_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alzheimer_disease_familial_early_onset_with_coexisting_amyloid_and_prion_pathology_patient_1.json new file mode 100644 index 000000000..7055685e3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alzheimer_disease_familial_early_onset_with_coexisting_amyloid_and_prion_pathology_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "alzheimer_disease,_familial_early-onset,_with_coexisting_amyloid_and_prion_pathology", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605055", + "label": "Alzheimer disease, familial early-onset, with coexisting amyloid and prion pathology" + } + } + ], + "metaData": { + "created": "2024-06-11T20:40:06.181206Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Alzheimer_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alzheimer_disease_patient_1.json new file mode 100644 index 000000000..4da93a75c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Alzheimer_disease_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "alzheimer_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002511", + "label": "Alzheimer disease" + } + }, + { + "type": { + "id": "HP:0000726", + "label": "Dementia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:104300", + "label": "Alzheimer disease" + } + } + ], + "metaData": { + "created": "2024-06-11T19:50:37.665431Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amastia_bilateral_with_ureteral_triplication_and_dysmorphism_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amastia_bilateral_with_ureteral_triplication_and_dysmorphism_patient_1.json new file mode 100644 index 000000000..05112bb8c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amastia_bilateral_with_ureteral_triplication_and_dysmorphism_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "amastia,_bilateral,_with_ureteral_triplication_and_dysmorphism", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002937", + "label": "Hemivertebrae" + } + }, + { + "type": { + "id": "HP:0001634", + "label": "Mitral valve prolapse" + } + }, + { + "type": { + "id": "HP:0008705", + "label": "Ureteral triplication" + } + }, + { + "type": { + "id": "HP:0001159", + "label": "Syndactyly" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0001374", + "label": "Congenital hip dislocation" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0002967", + "label": "Cubitus valgus" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0000238", + "label": "Hydrocephalus" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0000767", + "label": "Pectus excavatum" + } + }, + { + "type": { + "id": "HP:0002561", + "label": "Absent nipple" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:104350", + "label": "Amastia, bilateral, with ureteral triplication and dysmorphism" + } + } + ], + "metaData": { + "created": "2024-06-12T00:29:37.228740Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amegakaryocytic_thrombocytopenia_congenital_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amegakaryocytic_thrombocytopenia_congenital_2_patient_1.json new file mode 100644 index 000000000..49a2e77f5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amegakaryocytic_thrombocytopenia_congenital_2_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "amegakaryocytic_thrombocytopenia,_congenital,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001876", + "label": "Pancytopenia" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0410254", + "label": "Cyclic neutropenia in myeloid maturation arrest in bone marrow" + } + }, + { + "type": { + "id": "HP:0005528", + "label": "Bone marrow hypocellularity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620481", + "label": "Amegakaryocytic thrombocytopenia, congenital, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:56:28.148179Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amegakaryocytic_thrombocytopenia_congenital_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amegakaryocytic_thrombocytopenia_congenital_patient_1.json new file mode 100644 index 000000000..269cebaa9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amegakaryocytic_thrombocytopenia_congenital_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "amegakaryocytic_thrombocytopenia,_congenital", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007068", + "label": "Inferior cerebellar vermis hypoplasia" + } + }, + { + "type": { + "id": "HP:0004859", + "label": "Amegakaryocytic thrombocytopenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604498", + "label": "Amegakaryocytic thrombocytopenia, congenital" + } + } + ], + "metaData": { + "created": "2024-06-11T19:20:23.781727Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelia_and_terminal_transverse_hemimelia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelia_and_terminal_transverse_hemimelia_patient_1.json new file mode 100644 index 000000000..e55c90b5d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelia_and_terminal_transverse_hemimelia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "amelia_and_terminal_transverse_hemimelia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009827", + "label": "Amelia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:104400", + "label": "Amelia and terminal transverse hemimelia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:35:38.593596Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelia_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelia_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..6c3885dd1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelia_autosomal_recessive_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "amelia,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009827", + "label": "Amelia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601360", + "label": "Amelia, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T21:37:49.318093Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_hypomaturation_type_IIA6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_hypomaturation_type_IIA6_patient_1.json new file mode 100644 index 000000000..a4daccff1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_hypomaturation_type_IIA6_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "amelogenesis_imperfecta,_hypomaturation_type,_iia6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009102", + "label": "Anterior open-bite malocclusion" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617217", + "label": "Amelogenesis imperfecta, hypomaturation type, IIA6" + } + } + ], + "metaData": { + "created": "2024-06-11T23:44:53.060265Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_hypomaturation_type_iia1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_hypomaturation_type_iia1_patient_1.json new file mode 100644 index 000000000..d78215dd2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_hypomaturation_type_iia1_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "amelogenesis_imperfecta,_hypomaturation_type,_iia1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000705", + "label": "Amelogenesis imperfecta" + } + }, + { + "type": { + "id": "HP:0006286", + "label": "Yellow-brown discoloration of the teeth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:204700", + "label": "Amelogenesis imperfecta, hypomaturation type, iia1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:19:38.233980Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_hypomaturation_type_iia2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_hypomaturation_type_iia2_patient_1.json new file mode 100644 index 000000000..365e6e460 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_hypomaturation_type_iia2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "amelogenesis_imperfecta,_hypomaturation_type,_iia2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000692", + "label": "Tooth malposition" + } + }, + { + "type": { + "id": "HP:0000682", + "label": "Abnormal dental enamel morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612529", + "label": "Amelogenesis imperfecta, hypomaturation type, iia2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:40:07.993291Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_hypomaturation_type_iia3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_hypomaturation_type_iia3_patient_1.json new file mode 100644 index 000000000..e66a643c6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_hypomaturation_type_iia3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "amelogenesis_imperfecta,_hypomaturation_type,_iia3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006285", + "label": "Enamel hypomineralization" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613211", + "label": "Amelogenesis imperfecta, hypomaturation type, iia3" + } + } + ], + "metaData": { + "created": "2024-06-11T21:57:00.111122Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_hypomaturation_type_iia4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_hypomaturation_type_iia4_patient_1.json new file mode 100644 index 000000000..85477d353 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_hypomaturation_type_iia4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "amelogenesis_imperfecta,_hypomaturation_type,_iia4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000705", + "label": "Amelogenesis imperfecta" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614832", + "label": "Amelogenesis imperfecta, hypomaturation type, iia4" + } + } + ], + "metaData": { + "created": "2024-06-11T20:15:23.099609Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_hypoplastic_hypomaturation_X_linked_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_hypoplastic_hypomaturation_X_linked_2_patient_1.json new file mode 100644 index 000000000..da8911337 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_hypoplastic_hypomaturation_X_linked_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "amelogenesis_imperfecta,_hypoplastic/hypomaturation,_x-linked_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000705", + "label": "Amelogenesis imperfecta" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301201", + "label": "Amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:40:11.016079Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IA_patient_1.json new file mode 100644 index 000000000..2f16e8bbb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IA_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "amelogenesis_imperfecta,_type_ia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000682", + "label": "Abnormal dental enamel morphology" + } + }, + { + "type": { + "id": "HP:0000679", + "label": "Taurodontia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:104530", + "label": "Amelogenesis imperfecta, type IA" + } + } + ], + "metaData": { + "created": "2024-06-11T21:09:12.396165Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IB_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IB_patient_1.json new file mode 100644 index 000000000..4b7a22363 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IB_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "amelogenesis_imperfecta,_type_ib", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000705", + "label": "Amelogenesis imperfecta" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:104500", + "label": "Amelogenesis imperfecta, type IB" + } + } + ], + "metaData": { + "created": "2024-06-11T20:46:29.600077Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IC_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IC_patient_1.json new file mode 100644 index 000000000..e37c946f1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IC_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "amelogenesis_imperfecta,_type_ic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011084", + "label": "Hypocalcification of dental enamel" + } + }, + { + "type": { + "id": "HP:0000705", + "label": "Amelogenesis imperfecta" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:204650", + "label": "Amelogenesis imperfecta, type IC" + } + } + ], + "metaData": { + "created": "2024-06-11T18:53:59.751665Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IE_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IE_patient_1.json new file mode 100644 index 000000000..df046acfe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IE_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "amelogenesis_imperfecta,_type_ie", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000705", + "label": "Amelogenesis imperfecta" + } + }, + { + "type": { + "id": "HP:0000685", + "label": "Hypoplasia of teeth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301200", + "label": "Amelogenesis imperfecta, type IE" + } + } + ], + "metaData": { + "created": "2024-06-11T19:28:26.323853Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IF_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IF_patient_1.json new file mode 100644 index 000000000..ce2f21b0a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IF_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "amelogenesis_imperfecta,_type_if", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006297", + "label": "Enamel hypoplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616270", + "label": "Amelogenesis imperfecta, type IF" + } + } + ], + "metaData": { + "created": "2024-06-11T18:05:44.078274Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IG_enamel_renal_syndrome__patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IG_enamel_renal_syndrome__patient_1.json new file mode 100644 index 000000000..a46b97e8d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IG_enamel_renal_syndrome__patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "amelogenesis_imperfecta,_type_ig_(enamel-renal_syndrome)", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000083", + "label": "Renal insufficiency" + } + }, + { + "type": { + "id": "HP:0000805", + "label": "Enuresis" + } + }, + { + "type": { + "id": "HP:0000705", + "label": "Amelogenesis imperfecta" + } + }, + { + "type": { + "id": "HP:0000212", + "label": "Gingival overgrowth" + } + }, + { + "type": { + "id": "HP:0004727", + "label": "Impaired renal concentrating ability" + } + }, + { + "type": { + "id": "HP:0000169", + "label": "Gingival fibromatosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:204690", + "label": "Amelogenesis imperfecta, type IG (enamel-renal syndrome)" + } + } + ], + "metaData": { + "created": "2024-06-11T19:20:54.681991Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IH_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IH_patient_1.json new file mode 100644 index 000000000..777494693 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IH_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "amelogenesis_imperfecta,_type_ih", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009722", + "label": "Dental enamel pits" + } + }, + { + "type": { + "id": "HP:0006286", + "label": "Yellow-brown discoloration of the teeth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616221", + "label": "Amelogenesis imperfecta, type IH" + } + } + ], + "metaData": { + "created": "2024-06-11T21:55:12.780107Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IIA5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IIA5_patient_1.json new file mode 100644 index 000000000..46ee20be6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IIA5_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "amelogenesis_imperfecta,_type_iia5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000705", + "label": "Amelogenesis imperfecta" + } + }, + { + "type": { + "id": "HP:0000670", + "label": "Carious teeth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615887", + "label": "Amelogenesis imperfecta, type IIA5" + } + } + ], + "metaData": { + "created": "2024-06-11T22:23:45.922222Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IIIB_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IIIB_patient_1.json new file mode 100644 index 000000000..ee1e5a903 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IIIB_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "amelogenesis_imperfecta,_type_iiib", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000705", + "label": "Amelogenesis imperfecta" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617607", + "label": "Amelogenesis imperfecta, type IIIB" + } + } + ], + "metaData": { + "created": "2024-06-11T23:52:50.807494Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IIIC_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IIIC_patient_1.json new file mode 100644 index 000000000..d6a383785 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IIIC_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "amelogenesis_imperfecta,_type_iiic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006286", + "label": "Yellow-brown discoloration of the teeth" + } + }, + { + "type": { + "id": "HP:0011084", + "label": "Hypocalcification of dental enamel" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618386", + "label": "Amelogenesis imperfecta, type IIIC" + } + } + ], + "metaData": { + "created": "2024-06-11T22:07:00.887973Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_III_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_III_patient_1.json new file mode 100644 index 000000000..7fe16dc4a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_III_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "amelogenesis_imperfecta,_type_iii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000689", + "label": "Dental malocclusion" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:130900", + "label": "Amelogenesis imperfecta, type III" + } + } + ], + "metaData": { + "created": "2024-06-11T22:20:43.936585Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IJ_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IJ_patient_1.json new file mode 100644 index 000000000..4f6078f26 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IJ_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "amelogenesis_imperfecta,_type_ij", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000670", + "label": "Carious teeth" + } + }, + { + "type": { + "id": "HP:0000682", + "label": "Abnormal dental enamel morphology" + } + }, + { + "type": { + "id": "HP:0006313", + "label": "Widely spaced primary teeth" + } + }, + { + "type": { + "id": "HP:0006282", + "label": "Generalized hypoplasia of dental enamel" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617297", + "label": "Amelogenesis imperfecta, type IJ" + } + } + ], + "metaData": { + "created": "2024-06-11T20:26:06.772734Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IK_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IK_patient_1.json new file mode 100644 index 000000000..d8eb4f58b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IK_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "amelogenesis_imperfecta,_type_ik", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000705", + "label": "Amelogenesis imperfecta" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620104", + "label": "Amelogenesis imperfecta, type IK" + } + } + ], + "metaData": { + "created": "2024-06-11T18:23:41.612309Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IV_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IV_patient_1.json new file mode 100644 index 000000000..ac8db00ac --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amelogenesis_imperfecta_type_IV_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "amelogenesis_imperfecta,_type_iv", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006297", + "label": "Enamel hypoplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:104510", + "label": "Amelogenesis imperfecta, type IV" + } + } + ], + "metaData": { + "created": "2024-06-11T19:38:44.558490Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amino_aciduria_with_mental_deficiency_dwarfism_muscular_dystrophy_osteoporosis_and_acidosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amino_aciduria_with_mental_deficiency_dwarfism_muscular_dystrophy_osteoporosis_and_acidosis_patient_1.json new file mode 100644 index 000000000..f8b302fa4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amino_aciduria_with_mental_deficiency_dwarfism_muscular_dystrophy_osteoporosis_and_acidosis_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "amino_aciduria_with_mental_deficiency,_dwarfism,_muscular_dystrophy,osteoporosis,_and_acidosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012467", + "label": "Acute respiratory acidosis" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0003510", + "label": "Severe short stature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:204730", + "label": "Amino aciduria with mental deficiency, dwarfism, muscular dystrophy,osteoporosis, and acidosis" + } + } + ], + "metaData": { + "created": "2024-06-11T18:44:08.379411Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aminoacylase_1_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aminoacylase_1_deficiency_patient_1.json new file mode 100644 index 000000000..e1199fc31 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aminoacylase_1_deficiency_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "aminoacylase_1_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0002188", + "label": "Delayed CNS myelination" + } + }, + { + "type": { + "id": "HP:0002120", + "label": "Cerebral cortical atrophy" + } + }, + { + "type": { + "id": "HP:0001623", + "label": "Breech presentation" + } + }, + { + "type": { + "id": "HP:0000752", + "label": "Hyperactivity" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0012080", + "label": "Cerebellar granular layer atrophy" + } + }, + { + "type": { + "id": "HP:0031372", + "label": "Cold paresis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609924", + "label": "Aminoacylase 1 deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T21:14:27.254019Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aminopterin_syndrome_sine_aminopterin_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aminopterin_syndrome_sine_aminopterin_patient_1.json new file mode 100644 index 000000000..10e1cdc9a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aminopterin_syndrome_sine_aminopterin_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "aminopterin_syndrome_sine_aminopterin", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005676", + "label": "Rudimentary postaxial polydactyly of hands" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0001159", + "label": "Syndactyly" + } + }, + { + "type": { + "id": "HP:0000248", + "label": "Brachycephaly" + } + }, + { + "type": { + "id": "HP:0045025", + "label": "Narrow palpebral fissure" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0002705", + "label": "High, narrow palate" + } + }, + { + "type": { + "id": "HP:0005659", + "label": "Thoracic kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0009601", + "label": "Aplasia/Hypoplasia of the thumb" + } + }, + { + "type": { + "id": "HP:0009115", + "label": "Aplasia/hypoplasia involving the skeleton" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600325", + "label": "Aminopterin syndrome sine aminopterin" + } + } + ], + "metaData": { + "created": "2024-06-11T21:55:02.056722Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_Finnish_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_Finnish_type_patient_1.json new file mode 100644 index 000000000..656938df2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_Finnish_type_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "amyloidosis,_finnish_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032614", + "label": "Renal glomerular amyloid deposition" + } + }, + { + "type": { + "id": "HP:0011034", + "label": "Amyloidosis" + } + }, + { + "type": { + "id": "HP:0012211", + "label": "Abnormal renal physiology" + } + }, + { + "type": { + "id": "HP:0012588", + "label": "Steroid-resistant nephrotic syndrome" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:105120", + "label": "Amyloidosis, Finnish type" + } + } + ], + "metaData": { + "created": "2024-06-11T18:25:35.665089Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_VI_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_VI_patient_1.json new file mode 100644 index 000000000..3732bc86e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_VI_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "amyloidosis_vi", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001297", + "label": "Stroke" + } + }, + { + "type": { + "id": "HP:0003216", + "label": "Generalized amyloid deposition" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:105150", + "label": "Amyloidosis VI" + } + } + ], + "metaData": { + "created": "2024-06-11T20:47:29.306745Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_cutaneous_bullous_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_cutaneous_bullous_patient_1.json new file mode 100644 index 000000000..a75a169c9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_cutaneous_bullous_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "amyloidosis,_cutaneous_bullous", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011034", + "label": "Amyloidosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:204900", + "label": "Amyloidosis, cutaneous bullous" + } + } + ], + "metaData": { + "created": "2024-06-11T19:14:31.023976Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_familial_visceral_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_familial_visceral_patient_1.json new file mode 100644 index 000000000..fde225187 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_familial_visceral_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "amyloidosis,_familial_visceral", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000822", + "label": "Hypertension" + } + }, + { + "type": { + "id": "HP:0000112", + "label": "Nephropathy" + } + }, + { + "type": { + "id": "HP:0001396", + "label": "Cholestasis" + } + }, + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0001917", + "label": "Renal amyloidosis" + } + }, + { + "type": { + "id": "HP:0000093", + "label": "Proteinuria" + } + }, + { + "type": { + "id": "HP:0000100", + "label": "Nephrotic syndrome" + } + }, + { + "type": { + "id": "HP:0000969", + "label": "Edema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:105200", + "label": "Amyloidosis, familial visceral" + } + } + ], + "metaData": { + "created": "2024-06-11T21:49:27.311809Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_hereditary_transthyretin_related_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_hereditary_transthyretin_related_patient_1.json new file mode 100644 index 000000000..7a5546d8b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_hereditary_transthyretin_related_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "amyloidosis,_hereditary,_transthyretin-related", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001271", + "label": "Polyneuropathy" + } + }, + { + "type": { + "id": "HP:0001638", + "label": "Cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0001265", + "label": "Hyporeflexia" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0011034", + "label": "Amyloidosis" + } + }, + { + "type": { + "id": "HP:0000020", + "label": "Urinary incontinence" + } + }, + { + "type": { + "id": "HP:0002922", + "label": "Increased CSF protein concentration" + } + }, + { + "type": { + "id": "HP:0010544", + "label": "Vertical nystagmus" + } + }, + { + "type": { + "id": "HP:0003477", + "label": "Peripheral axonal neuropathy" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0002572", + "label": "Episodic vomiting" + } + }, + { + "type": { + "id": "HP:0000408", + "label": "Progressive sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0000651", + "label": "Diplopia" + } + }, + { + "type": { + "id": "HP:0000802", + "label": "Impotence" + } + }, + { + "type": { + "id": "HP:0007034", + "label": "Generalized hyperreflexia" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:105210", + "label": "Amyloidosis, hereditary, transthyretin-related" + } + } + ], + "metaData": { + "created": "2024-06-11T21:51:49.507989Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_of_gingiva_and_conjunctiva_with_mental_retardation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_of_gingiva_and_conjunctiva_with_mental_retardation_patient_1.json new file mode 100644 index 000000000..f565fc6f5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_of_gingiva_and_conjunctiva_with_mental_retardation_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "amyloidosis_of_gingiva_and_conjunctiva,_with_mental_retardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007759", + "label": "Opacification of the corneal stroma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:204850", + "label": "Amyloidosis of gingiva and conjunctiva, with mental retardation" + } + } + ], + "metaData": { + "created": "2024-06-11T23:05:53.759625Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_primary_localized_cutaneous_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_primary_localized_cutaneous_1_patient_1.json new file mode 100644 index 000000000..2897a45e0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_primary_localized_cutaneous_1_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "amyloidosis,_primary_localized_cutaneous,_1", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012309", + "label": "Cutaneous amyloidosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:105250", + "label": "Amyloidosis, primary localized cutaneous, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:20:55.811980Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_primary_localized_cutaneous_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_primary_localized_cutaneous_2_patient_1.json new file mode 100644 index 000000000..767b92720 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_primary_localized_cutaneous_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "amyloidosis,_primary_localized_cutaneous,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000989", + "label": "Pruritus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613955", + "label": "Amyloidosis, primary localized cutaneous, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:15:37.063253Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_primary_localized_cutaneous_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_primary_localized_cutaneous_3_patient_1.json new file mode 100644 index 000000000..d314804f5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyloidosis_primary_localized_cutaneous_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "amyloidosis,_primary_localized_cutaneous,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000958", + "label": "Dry skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617920", + "label": "Amyloidosis, primary localized cutaneous, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T22:32:06.164628Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyotonia_congenita_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyotonia_congenita_patient_1.json new file mode 100644 index 000000000..e744f0c23 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyotonia_congenita_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "amyotonia_congenita", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:205000", + "label": "Amyotonia congenita" + } + } + ], + "metaData": { + "created": "2024-06-11T19:01:20.327762Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyotrophic_dystonic_paraplegia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyotrophic_dystonic_paraplegia_patient_1.json new file mode 100644 index 000000000..893b83245 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyotrophic_dystonic_paraplegia_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "amyotrophic_dystonic_paraplegia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0012700", + "label": "Abnormal large intestine physiology" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0010992", + "label": "Stress urinary incontinence" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:105300", + "label": "Amyotrophic dystonic paraplegia" + } + } + ], + "metaData": { + "created": "2024-06-11T22:55:51.787638Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyotrophic_lateral_sclerosis_10_with_or_without_frontotemporal_dementia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyotrophic_lateral_sclerosis_10_with_or_without_frontotemporal_dementia_patient_1.json new file mode 100644 index 000000000..fc696cc03 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyotrophic_lateral_sclerosis_10_with_or_without_frontotemporal_dementia_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "amyotrophic_lateral_sclerosis_10_with_or_without_frontotemporal_dementia", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P76Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000712", + "label": "Emotional lability" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:6000316", + "label": "Spastic monoplegia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612069", + "label": "Amyotrophic lateral sclerosis 10 with or without frontotemporal dementia" + } + } + ], + "metaData": { + "created": "2024-06-11T21:05:23.327285Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyotrophic_lateral_sclerosis_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyotrophic_lateral_sclerosis_11_patient_1.json new file mode 100644 index 000000000..b6e6a79f7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyotrophic_lateral_sclerosis_11_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "amyotrophic_lateral_sclerosis_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002493", + "label": "Upper motor neuron dysfunction" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612577", + "label": "Amyotrophic lateral sclerosis 11" + } + } + ], + "metaData": { + "created": "2024-06-11T19:21:30.594873Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyotrophic_lateral_sclerosis_12_with_or_without_frontotemporal_dementia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyotrophic_lateral_sclerosis_12_with_or_without_frontotemporal_dementia_patient_1.json new file mode 100644 index 000000000..9cc012cfc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyotrophic_lateral_sclerosis_12_with_or_without_frontotemporal_dementia_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "amyotrophic_lateral_sclerosis_12_with_or_without_frontotemporal_dementia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyotrophic_lateral_sclerosis_and_or_frontotemporal_dementia_1_patient_1.json new file mode 100644 index 000000000..7cea12c95 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyotrophic_lateral_sclerosis_and_or_frontotemporal_dementia_1_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "amyotrophic_lateral_sclerosis_and/or_frontotemporal_dementia_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0002385", + "label": "Paraparesis" + } + }, + { + "type": { + "id": "HP:0002171", + "label": "Gliosis" + } + }, + { + "type": { + "id": "HP:0002529", + "label": "Neuronal loss in central nervous system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:105550", + "label": "Amyotrophic lateral sclerosis and/or frontotemporal dementia 1" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyotrophic_lateral_sclerosis_juvenile_with_dementia_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "amyotrophic_lateral_sclerosis,_juvenile,_with_dementia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003693", + "label": "Distal amyotrophy" + } + }, + { + "type": { + "id": "HP:0007354", + "label": "Amyotrophic lateral sclerosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:205200", + "label": "Amyotrophic lateral sclerosis, juvenile, with dementia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:54:39.858666Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + 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000000000..af05fe5a6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyotrophic_lateral_sclerosis_susceptibility_to_24_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "amyotrophic_lateral_sclerosis,_susceptibility_to,_24", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007354", + "label": "Amyotrophic lateral sclerosis" + } + }, + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0002273", + "label": "Tetraparesis" + } + }, + { + "type": { + "id": "HP:0200136", + "label": "Oral-pharyngeal dysphagia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617892", + "label": "Amyotrophic lateral sclerosis, susceptibility to, 24" + } + } + ], + "metaData": { + "created": "2024-06-11T21:23:18.391329Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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"amyotrophic_lateral_sclerosis,_susceptibility_to,_25", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007354", + "label": "Amyotrophic lateral sclerosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617921", + "label": "Amyotrophic lateral sclerosis, susceptibility to, 25" + } + } + ], + "metaData": { + "created": "2024-06-11T22:24:19.486051Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyotrophic_lateral_sclerosis_with_polyglucosan_bodies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyotrophic_lateral_sclerosis_with_polyglucosan_bodies_patient_1.json new file mode 100644 index 000000000..446819b50 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Amyotrophic_lateral_sclerosis_with_polyglucosan_bodies_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "amyotrophic_lateral_sclerosis_with_polyglucosan_bodies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002483", + "label": "Bulbar signs" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:205250", + "label": "Amyotrophic lateral sclerosis with polyglucosan bodies" + } + } + ], + "metaData": { + "created": "2024-06-11T21:23:28.194398Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0045054", + "label": "Brachial plexus neuropathy" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0011333", + "label": "Asymmetric crying face" + } + }, + { + "type": { + "id": "HP:0033142", + "label": "Long nasal bridge" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0031770", + "label": "Epicanthus palpebralis" + } + }, + { + "type": { + "id": "HP:0008929", + "label": "Asymmetric short stature" + } + }, + { + "type": { + "id": "HP:0000160", + "label": "Narrow mouth" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + }, + { + "type": { + "id": "HP:0000601", + "label": "Hypotelorism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:162100", + "label": "Amyotrophy, hereditary neuralgic" + } + } 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"https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anal_canal_carcinomacloacogenic_carcinoma_included_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anal_canal_carcinomacloacogenic_carcinoma_included_patient_1.json new file mode 100644 index 000000000..365d5378a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anal_canal_carcinomacloacogenic_carcinoma_included_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "anal_canal_carcinomacloacogenic_carcinoma,_included", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006763", + "label": "Anal canal squamous carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:105580", + "label": "Anal canal carcinomacloacogenic carcinoma, included" + } + } + ], + "metaData": { + "created": "2024-06-11T20:17:23.020500Z", + "createdBy": 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+ { + "type": { + "id": "HP:0002615", + "label": "Hypotension" + } + }, + { + "type": { + "id": "HP:0032386", + "label": "Elevated circulating transferrin concentration" + } + }, + { + "type": { + "id": "HP:0012378", + "label": "Fatigue" + } + }, + { + "type": { + "id": "HP:0009125", + "label": "Lipodystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616000", + "label": "Analbuminemia" + } + } + ], + "metaData": { + "created": "2024-06-11T21:01:31.512547Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anauxetic_dysplasia_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anauxetic_dysplasia_1_patient_1.json new file mode 100644 index 000000000..f917d9ce3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anauxetic_dysplasia_1_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "anauxetic_dysplasia_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001650", + "label": "Aortic valve stenosis" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0005678", + "label": "Anterior atlanto-occipital dislocation" + } + }, + { + "type": { + "id": "HP:0000303", + "label": "Mandibular prognathia" + } + }, + { + "type": { + "id": "HP:0004279", + "label": "Short palm" + } + }, + { + "type": { + "id": "HP:0005750", + "label": "Lower-limb joint contracture" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0030809", + "label": "Abnormal tongue morphology" + } + }, + { + "type": { + "id": "HP:0004991", + "label": "Rhizomelic arm shortening" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607095", + "label": "Anauxetic dysplasia 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:59:54.940129Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anauxetic_dysplasia_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anauxetic_dysplasia_2_patient_1.json new file mode 100644 index 000000000..d8cfa005f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anauxetic_dysplasia_2_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "anauxetic_dysplasia_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005871", + "label": "Metaphyseal chondrodysplasia" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0004482", + "label": "Relative macrocephaly" + } + }, + { + "type": { + "id": "HP:0002209", + "label": "Sparse scalp hair" + } + }, + { + "type": { + "id": "HP:0040069", + "label": "Abnormal lower limb bone morphology" + } + }, + { + "type": { + "id": "HP:0008422", + "label": "Vertebral wedging" + } + }, + { + "type": { + "id": "HP:0100875", + "label": "Hemimacroglossia" + } + }, + { + "type": { + "id": "HP:0010646", + "label": "Cervical spine instability" + } + }, + { + "type": { + "id": "HP:0002938", + "label": "Lumbar hyperlordosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617396", + "label": "Anauxetic dysplasia 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:20:54.143477Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anauxetic_dysplasia_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anauxetic_dysplasia_3_patient_1.json new file mode 100644 index 000000000..7a49e0a4c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anauxetic_dysplasia_3_patient_1.json @@ -0,0 +1,177 @@ +{ + "id": "anauxetic_dysplasia_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001357", + "label": "Plagiocephaly" + } + }, + { + "type": { + "id": "HP:0008067", + "label": "Abnormally lax or hyperextensible skin" + } + }, + { + "type": { + "id": "HP:0009890", + "label": "High anterior hairline" + } + }, + { + "type": { + "id": "HP:0011927", + "label": "Short digit" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0100531", + "label": "Wind-swept deformity of the knees" + } + }, + { + "type": { + "id": "HP:0012736", + "label": "Profound global developmental delay" + } + }, + { + "type": { + "id": "HP:0001595", + "label": "Abnormal hair morphology" + } + }, + { + "type": { + "id": "HP:0003510", + "label": "Severe short stature" + } + }, + { + "type": { + "id": "HP:0003423", + "label": "Thoracolumbar kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0000309", + "label": "Abnormal midface morphology" + } + }, + { + "type": { + "id": "HP:0005918", + "label": "Abnormal finger phalanx morphology" + } + }, + { + "type": { + "id": "HP:0009295", + "label": "Short middle phalanx of the 4th finger" + } + }, + { + "type": { + "id": "HP:0003026", + "label": "Short long bone" + } + }, + { + "type": { + "id": "HP:0000534", + "label": "Abnormal eyebrow morphology" + } + }, + { + "type": { + "id": "HP:0009804", + "label": "Tooth agenesis" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0000915", + "label": "Pectus excavatum of inferior sternum" + } + }, + { + "type": { + "id": "HP:0000277", + "label": "Abnormal mandible morphology" + } + }, + { + "type": { + "id": "HP:0006208", + "label": "Metaphyseal cupping of proximal phalanges" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0008386", + "label": "Aplasia/Hypoplasia of the nails" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618853", + "label": "Anauxetic dysplasia 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:11:52.588846Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Andersen_cardiodysrhythmic_periodic_paralysis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Andersen_cardiodysrhythmic_periodic_paralysis_patient_1.json new file mode 100644 index 000000000..3e9f38851 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Andersen_cardiodysrhythmic_periodic_paralysis_patient_1.json @@ -0,0 +1,219 @@ +{ + "id": "andersen_cardiodysrhythmic_periodic_paralysis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006297", + "label": "Enamel hypoplasia" + } + }, + { + "type": { + "id": "HP:0003768", + "label": "Periodic paralysis" + } + }, + { + "type": { + "id": "HP:0000836", + "label": "Hyperthyroidism" + } + }, + { + "type": { + "id": "HP:0002900", + "label": "Hypokalemia" + } + }, + { + "type": { + "id": "HP:0003779", + "label": "Antegonial notching of mandible" + } + }, + { + "type": { + "id": "HP:0000677", + "label": "Oligodontia" + } + }, + { + "type": { + "id": "HP:0005147", + "label": "Bidirectional ventricular ectopy" + } + }, + { + "type": { + "id": "HP:0001962", + "label": "Palpitations" + } + }, + { + "type": { + "id": "HP:0200007", + "label": "Abnormal size of the palpebral fissures" + } + }, + { + "type": { + "id": "HP:0000326", + "label": "Abnormal maxilla morphology" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + }, + { + "type": { + "id": "HP:0000678", + "label": "Dental crowding" + } + }, + { + "type": { + "id": "HP:0200055", + "label": "Small hand" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0005639", + "label": "Hyperextensible hand joints" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0003115", + "label": "Abnormal EKG" + } + }, + { + "type": { + "id": "HP:0011331", + "label": "Hemifacial atrophy" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + "type": { 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anemia_X_linked_with_or_without_neutropenia_and_or_platelet_abnormalities_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anemia_X_linked_with_or_without_neutropenia_and_or_platelet_abnormalities_patient_1.json new file mode 100644 index 000000000..b5cbc232d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anemia_X_linked_with_or_without_neutropenia_and_or_platelet_abnormalities_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "anemia,_x-linked,_with_or_without_neutropenia_and/or_platelet_abnormalities", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011273", + "label": "Anisocytosis" + } + }, + { + "type": { + "id": "HP:0001875", + "label": "Neutropenia" + } + }, + { + "type": { + "id": "HP:0004447", + "label": "Poikilocytosis" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anemia_autoimmune_hemolytic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anemia_autoimmune_hemolytic_patient_1.json new file mode 100644 index 000000000..6603c9409 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anemia_autoimmune_hemolytic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "anemia,_autoimmune_hemolytic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001890", + "label": "Autoimmune hemolytic anemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:205700", + "label": "Anemia, autoimmune hemolytic" + } + } + ], + "metaData": { + "created": "2024-06-11T19:27:18.797361Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anemia_congenital_dyserythropoietic_type_Ib_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anemia_congenital_dyserythropoietic_type_Ib_patient_1.json new file mode 100644 index 000000000..799e594e5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anemia_congenital_dyserythropoietic_type_Ib_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "anemia,_congenital_dyserythropoietic,_type_ib", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001159", + "label": "Syndactyly" + } + }, + { + "type": { + "id": "HP:0010972", + "label": "Anemia of inadequate production" + } + }, + { + "type": { + "id": "HP:0000980", + "label": "Pallor" + } + }, + { + "type": { + "id": "HP:0020047", + "label": "Abnormal myeloid cell morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615631", + "label": "Anemia, congenital dyserythropoietic, type Ib" + } + } + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anemia_dyserythropoietic_congenital_type_III_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "anemia,_dyserythropoietic_congenital,_type_iii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0020181", + "label": "Reduced haptoglobin level" + } + }, + { + "type": { + "id": "HP:0004861", + "label": "Refractory macrocytic anemia" + } + }, + { + "type": { + "id": "HP:0012543", + "label": "Hemosiderinuria" + } + }, + { + "type": { + "id": "HP:0025435", + "label": "Increased circulating lactate dehydrogenase concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:105600", + "label": "Anemia, dyserythropoietic congenital, type III" + } + } + ], + "metaData": { + "created": "2024-06-11T21:57:43.229222Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + 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at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anemia_sideroblastic_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anemia_sideroblastic_5_patient_1.json new file mode 100644 index 000000000..87ad3d1eb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anemia_sideroblastic_5_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "anemia,_sideroblastic,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031851", + "label": "Reduced hematocrit" + } + }, + { + "type": { + "id": "HP:0002863", + "label": "Myelodysplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619523", + "label": "Anemia, sideroblastic, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T20:25:45.536568Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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+1,45 @@ +{ + "id": "anencephaly_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000528", + "label": "Anophthalmia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619452", + "label": "Anencephaly 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:46:16.881365Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anencephaly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anencephaly_patient_1.json new file mode 100644 index 000000000..62d19b42f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anencephaly_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "anencephaly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002323", + "label": "Anencephaly" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:206500", + "label": "Anencephaly" + } + } + ], + "metaData": { + "created": "2024-06-12T00:31:01.873859Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aneurysm_intracranial_berry_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "aneurysm,_intracranial_berry,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004944", + "label": "Dilatation of the cerebral artery" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:105800", + "label": "Aneurysm, intracranial berry, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:31:44.382153Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aneurysm_intracranial_berry_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aneurysm_intracranial_berry_2_patient_1.json new file mode 100644 index 000000000..075534347 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aneurysm_intracranial_berry_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "aneurysm,_intracranial_berry,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007029", + "label": "Cerebral berry aneurysm" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608542", + "label": "Aneurysm, intracranial berry, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:28:19.784072Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aneurysm_intracranial_berry_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aneurysm_intracranial_berry_3_patient_1.json new file mode 100644 index 000000000..379042d42 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aneurysm_intracranial_berry_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "aneurysm,_intracranial_berry,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007029", + "label": "Cerebral berry aneurysm" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609122", + "label": "Aneurysm, intracranial berry, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T20:13:53.218774Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aneurysm_of_interventricular_septum_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aneurysm_of_interventricular_septum_patient_1.json new file mode 100644 index 000000000..4ed3ffc7a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aneurysm_of_interventricular_septum_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "aneurysm_of_interventricular_septum", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010438", + "label": "Abnormal ventricular septum morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:105805", + "label": "Aneurysm of interventricular septum" + } + } + ], + "metaData": { + "created": "2024-06-11T20:48:17.782024Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Angel_Shaped_phalangoepiphyseal_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Angel_Shaped_phalangoepiphyseal_dysplasia_patient_1.json new file mode 100644 index 000000000..6bf2e1b12 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Angel_Shaped_phalangoepiphyseal_dysplasia_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "angel-shaped_phalangoepiphyseal_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009193", + "label": "Pseudoepiphyses of the metacarpals" + } + }, + { + "type": { + "id": "HP:0001216", + "label": "Delayed ossification of carpal bones" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:105835", + "label": "Angel-Shaped phalangoepiphyseal dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T21:10:49.097291Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Angelman_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Angelman_syndrome_patient_1.json new file mode 100644 index 000000000..aface7e93 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Angelman_syndrome_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "angelman_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0200085", + "label": "Limb tremor" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0000158", + "label": "Macroglossia" + } + }, + { + "type": { + "id": "HP:0005469", + "label": "Flat occiput" + } + }, + { + "type": { + "id": "HP:0006979", + "label": "Sleep-wake cycle disturbance" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0040195", + "label": "Decreased head circumference" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:105830", + "label": "Angelman syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:24:09.452667Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Angioedema_hereditary_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Angioedema_hereditary_1_patient_1.json new file mode 100644 index 000000000..9621df8da --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Angioedema_hereditary_1_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "angioedema,_hereditary,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100539", + "label": "Periorbital edema" + } + }, + { + "type": { + "id": "HP:0025434", + "label": "Reduced circulating CH50 activity" + } + }, + { + "type": { + "id": "HP:0033748", + "label": "Hypoesthesia" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0033151", + "label": "Abnormal pharynx morphology" + } + }, + { + "type": { + "id": "HP:0000969", + "label": "Edema" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0045043", + "label": "Decreased circulating complement C4a concentration" + } + }, + { + "type": { + "id": "HP:0000759", + "label": "Abnormal peripheral nervous system morphology" + } + }, + { + "type": { + "id": "HP:0007002", + "label": "Motor axonal neuropathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:106100", + "label": "Angioedema, hereditary, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:54:14.831994Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Angioedema_hereditary_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Angioedema_hereditary_3_patient_1.json new file mode 100644 index 000000000..82fb5c01e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Angioedema_hereditary_3_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "angioedema,_hereditary,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002013", + "label": "Vomiting" + }, + "modifiers": [ + { + "id": "HP:0025303", + "label": "Episodic" + } + ] + }, + { + "type": { + "id": "HP:0100665", + "label": "Angioedema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610618", + "label": "Angioedema, hereditary, 3" + } + } + ], + "metaData": { + "created": "2024-06-12T00:13:52.139568Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Angioedema_hereditary_5_patient_1.json new file mode 100644 index 000000000..ce161c4ab --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Angioedema_hereditary_5_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "angioedema,_hereditary,_5", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P12Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100665", + "label": "Angioedema" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0000969", + "label": "Edema" + }, + "modifiers": [ + { + "id": "HP:0031796", + "label": "Recurrent" + } + ] + }, + { + "type": { + "id": "HP:0031244", + "label": "Swollen lip" + }, + "modifiers": [ + { + "id": "HP:0031796", + "label": "Recurrent" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619361", + "label": "Angioedema, hereditary, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T22:40:31.399330Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Angioedema_hereditary_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Angioedema_hereditary_6_patient_1.json new file mode 100644 index 000000000..4368f4589 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Angioedema_hereditary_6_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "angioedema,_hereditary,_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007514", + "label": "Edema of the dorsum of hands" + }, + "modifiers": [ + { + "id": "HP:0031796", + "label": "Recurrent" + } + ] + }, + { + "type": { + "id": "HP:0010749", + "label": "Blepharochalasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619363", + "label": "Angioedema, hereditary, 6" + } + } + ], + "metaData": { + "created": "2024-06-11T23:29:30.541073Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Angioedema_hereditary_8_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "angioedema,_hereditary,_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002572", + "label": "Episodic vomiting" + } + }, + { + "type": { + "id": "HP:0007514", + "label": "Edema of the dorsum of hands" + }, + "modifiers": [ + { + "id": "HP:0031796", + "label": "Recurrent" + } + ] + }, + { + "type": { + "id": "HP:0012724", + "label": "Upper eyelid edema" + }, + "modifiers": [ + { + "id": "HP:0031796", + "label": "Recurrent" + } + ] + }, + { + "type": { + "id": "HP:0002041", + "label": "Intractable diarrhea" + }, + "modifiers": [ + { + "id": "HP:0031796", + "label": "Recurrent" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619367", + "label": "Angioedema, hereditary, 8" + } + } + ], + "metaData": { + "created": "2024-06-11T23:31:15.231056Z", + "createdBy": "phenotype2phenopacket", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Angiokeratoma_corporis_diffusum_with_arteriovenous_fistulas_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "angiokeratoma_corporis_diffusum_with_arteriovenous_fistulas", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001071", + "label": "Angiokeratoma corporis diffusum" + } + }, + { + "type": { + "id": "HP:0002642", + "label": "Arteriovenous fistulas of celiac and mesenteric vessels" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600419", + "label": "Angiokeratoma corporis diffusum with arteriovenous fistulas" + } + } + ], + "metaData": { + "created": "2024-06-11T23:10:33.317386Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": 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000000000..0273eab41 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Angioma_hereditary_neurocutaneousspinal_arterial_venous_malformations_with_cutaneous_hemangiomas_included_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "angioma,_hereditary_neurocutaneousspinal_arterial_venous_malformations_with_cutaneous_hemangiomas,_included", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002239", + "label": "Gastrointestinal hemorrhage" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:106070", + "label": "Angioma, hereditary neurocutaneousspinal arterial venous malformations with cutaneous hemangiomas, included" + } + } + ], + "metaData": { + "created": "2024-06-11T19:23:35.512243Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Angioma_serpiginosum_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Angioma_serpiginosum_X_linked_patient_1.json new file mode 100644 index 000000000..db19465a3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Angioma_serpiginosum_X_linked_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "angioma_serpiginosum,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000962", + "label": "Hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300652", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Angioma_serpiginosum_autosomal_dominant_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "angioma_serpiginosum,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000962", + "label": "Hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:106050", + "label": "Angioma serpiginosum, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T21:25:25.016704Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Angioma_tufted_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Angioma_tufted_patient_1.json new file mode 100644 index 000000000..e26640dc7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Angioma_tufted_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "angioma,_tufted", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010802", + "label": "Perioral hyperpigmentation" + } + }, + { + "type": { + "id": "HP:0012329", + "label": "Tufted angioma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607859", + "label": "Angioma, tufted" + } + } + ], + "metaData": { + "created": "2024-06-11T20:41:40.978136Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"angiomatosis,_diffuse_corticomeningeal,_of_divry_and_van_bogaert", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + } + }, + { + "type": { + "id": "HP:0002977", + "label": "Aplasia/Hypoplasia involving the central nervous system" + } + }, + { + "type": { + "id": "HP:0001123", + "label": "Visual field defect" + } + }, + { + "type": { + "id": "HP:0002136", + "label": "Broad-based gait" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0000726", + "label": "Dementia" + } + }, + { + "type": { + "id": "HP:0002200", + "label": "Pseudobulbar signs" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:206570", + "label": "Angiomatosis, diffuse corticomeningeal, of divry and van bogaert" + } + } + ], + "metaData": { + "created": "2024-06-11T21:43:58.729656Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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"angiopathy,_hereditary,_with_nephropathy,_aneurysms,_and_muscle_cramps", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000573", + "label": "Retinal hemorrhage" + } + }, + { + "type": { + "id": "HP:0003236", + "label": "Elevated circulating creatine kinase concentration" + } + }, + { + "type": { + "id": "HP:0001136", + "label": "Retinal arteriolar tortuosity" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611773", + "label": "Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps" + } + } + ], + "metaData": { + "created": "2024-06-11T22:15:46.836500Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anhidrosis_isolated_with_normal_sweat_glands_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anhidrosis_isolated_with_normal_sweat_glands_patient_1.json new file mode 100644 index 000000000..1671fbb9a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anhidrosis_isolated_with_normal_sweat_glands_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "anhidrosis,_isolated,_with_normal_sweat_glands", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007459", + "label": "Generalized anhidrosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:106190", + "label": "Anhidrosis, isolated, with normal sweat glands" + } + } + ], + "metaData": { + "created": "2024-06-11T22:53:50.835437Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aniridia_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aniridia_2_patient_1.json new file mode 100644 index 000000000..bd93e50f0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aniridia_2_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "aniridia_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000526", + "label": "Aniridia" + }, + "modifiers": [ + { + "id": "HP:0012832", + "label": "Bilateral" + } + ] + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617141", + "label": "Aniridia 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:35:26.647650Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aniridia_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aniridia_3_patient_1.json new file mode 100644 index 000000000..feddb3d51 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aniridia_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "aniridia_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617142", + "label": "Aniridia 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:00:23.793242Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aniridia_and_absent_patella_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aniridia_and_absent_patella_patient_1.json new file mode 100644 index 000000000..7a5ef570c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aniridia_and_absent_patella_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "aniridia_and_absent_patella", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000501", + "label": "Glaucoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:106220", + "label": "Aniridia and absent patella" + } + } + ], + "metaData": { + "created": "2024-06-12T02:19:24.318610Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aniridia_microcornea_and_spontaneously_reabsorbed_cataract_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aniridia_microcornea_and_spontaneously_reabsorbed_cataract_patient_1.json new file mode 100644 index 000000000..47d7b05ae --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aniridia_microcornea_and_spontaneously_reabsorbed_cataract_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "aniridia,_microcornea,_and_spontaneously_reabsorbed_cataract", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000526", + "label": "Aniridia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:106230", + "label": "Aniridia, microcornea, and spontaneously reabsorbed cataract" + } + } + ], + "metaData": { + "created": "2024-06-11T22:45:13.239343Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aniridia_partial_with_unilateral_renal_agenesis_and_psychomotorretardation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aniridia_partial_with_unilateral_renal_agenesis_and_psychomotorretardation_patient_1.json new file mode 100644 index 000000000..5d4279efd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aniridia_partial_with_unilateral_renal_agenesis_and_psychomotorretardation_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "aniridia,_partial,_with_unilateral_renal_agenesis_and_psychomotorretardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000506", + "label": "Telecanthus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:206750", + "label": "Aniridia, partial, with unilateral renal agenesis and psychomotorretardation" + } + } + ], + "metaData": { + "created": "2024-06-11T19:44:01.619131Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aniridia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aniridia_patient_1.json new file mode 100644 index 000000000..89a9663b5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aniridia_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "aniridia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011496", + "label": "Corneal neovascularization" + } + }, + { + "type": { + "id": "HP:0001488", + "label": "Bilateral ptosis" + } + }, + { + "type": { + "id": "HP:0007676", + "label": "Hypoplasia of the iris" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0001952", + "label": "Glucose intolerance" + } + }, + { + "type": { + "id": "HP:0000526", + "label": "Aniridia" + } + }, + { + "type": { + "id": "HP:0040030", + "label": "Chorioretinal hypopigmentation" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0004328", + "label": "Abnormal anterior eye segment morphology" + } + }, + { + "type": { + "id": "HP:0006849", + "label": "Hypodysplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0000549", + "label": "Abnormal conjugate eye movement" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:106210", + "label": "Aniridia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:04:32.902632Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ankyloblepharon_filiforme_adnatum_and_cleft_palate_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ankyloblepharon_filiforme_adnatum_and_cleft_palate_patient_1.json new file mode 100644 index 000000000..fea944a83 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ankyloblepharon_filiforme_adnatum_and_cleft_palate_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ankyloblepharon_filiforme_adnatum_and_cleft_palate", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000204", + "label": "Cleft upper lip" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:106250", + "label": "Ankyloblepharon filiforme adnatum and cleft palate" + } + } + ], + "metaData": { + "created": "2024-06-11T21:31:38.871656Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ankyloglossia_with_or_without_tooth_anomalies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ankyloglossia_with_or_without_tooth_anomalies_patient_1.json new file mode 100644 index 000000000..4a531cc3f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ankyloglossia_with_or_without_tooth_anomalies_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ankyloglossia_with_or_without_tooth_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011069", + "label": "Supernumerary tooth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:106280", + "label": "Ankyloglossia with or without tooth anomalies" + } + } + ], + "metaData": { + "created": "2024-06-11T22:35:11.991104Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ankylosing_vertebral_hyperostosis_with_tylosisdiffuse_idiopathic_skeletal_hyperostosis_included_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ankylosing_vertebral_hyperostosis_with_tylosisdiffuse_idiopathic_skeletal_hyperostosis_included_patient_1.json new file mode 100644 index 000000000..e40c72d95 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ankylosing_vertebral_hyperostosis_with_tylosisdiffuse_idiopathic_skeletal_hyperostosis_included_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ankylosing_vertebral_hyperostosis_with_tylosisdiffuse_idiopathic_skeletal_hyperostosis,_included", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007508", + "label": "Punctate palmar hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:106400", + "label": "Ankylosing vertebral hyperostosis with tylosisdiffuse idiopathic skeletal hyperostosis, included" + } + } + ], + "metaData": { + "created": "2024-06-11T18:14:27.353077Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Annular_erythema_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Annular_erythema_patient_1.json new file mode 100644 index 000000000..44c049fbf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Annular_erythema_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "annular_erythema", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010783", + "label": "Erythema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:106500", + "label": "Annular erythema" + } + } + ], + "metaData": { + "created": "2024-06-11T19:26:50.302748Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anodontia_of_permanent_dentition_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anodontia_of_permanent_dentition_patient_1.json new file mode 100644 index 000000000..e36c41292 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anodontia_of_permanent_dentition_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "anodontia_of_permanent_dentition", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000674", + "label": "Anodontia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:206780", + "label": "Anodontia of permanent dentition" + } + } + ], + "metaData": { + "created": "2024-06-11T20:14:20.404668Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anonychia_Onychodystrophy_with_hypoplasia_or_absence_of_distal_phalanges_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anonychia_Onychodystrophy_with_hypoplasia_or_absence_of_distal_phalanges_patient_1.json new file mode 100644 index 000000000..bf99bff4c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anonychia_Onychodystrophy_with_hypoplasia_or_absence_of_distal_phalanges_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "anonychia-onychodystrophy_with_hypoplasia_or_absence_of_distal_phalanges", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0008404", + "label": "Nail dystrophy" + } + }, + { + "type": { + "id": "HP:0006262", + "label": "Aplasia/Hypoplasia of the 5th finger" + } + }, + { + "type": { + "id": "HP:0000448", + "label": "Prominent nose" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0009997", + "label": "Duplication of phalanx of hand" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0000426", + "label": "Prominent nasal bridge" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:106995", + "label": "Anonychia-Onychodystrophy with hypoplasia or absence of distal phalanges" + } + } + ], + "metaData": { + "created": "2024-06-11T19:21:43.965687Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anonychia_congenita_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anonychia_congenita_patient_1.json new file mode 100644 index 000000000..42b683ff7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anonychia_congenita_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "anonychia_congenita", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001798", + "label": "Anonychia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:206800", + "label": "Anonychia congenita" + } + } + ], + "metaData": { + "created": "2024-06-11T20:02:14.384024Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anonychia_with_flexural_pigmentation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anonychia_with_flexural_pigmentation_patient_1.json new file mode 100644 index 000000000..c4de74192 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anonychia_with_flexural_pigmentation_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "anonychia_with_flexural_pigmentation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001798", + "label": "Anonychia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:106750", + "label": "Anonychia with flexural pigmentation" + } + } + ], + "metaData": { + "created": "2024-06-12T02:25:27.795554Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anorectal_anomalies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anorectal_anomalies_patient_1.json new file mode 100644 index 000000000..848910c68 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anorectal_anomalies_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "anorectal_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000143", + "label": "Rectovaginal fistula" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:107100", + "label": "Anorectal anomalies" + } + } + ], + "metaData": { + "created": "2024-06-11T23:32:56.798805Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anosmia_congenital_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anosmia_congenital_patient_1.json new file mode 100644 index 000000000..2a3bec77c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anosmia_congenital_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "anosmia,_congenital", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000458", + "label": "Anosmia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:107200", + "label": "Anosmia, congenital" + } + } + ], + "metaData": { + "created": "2024-06-11T22:03:54.277671Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anosmia_for_isobutyric_acid_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anosmia_for_isobutyric_acid_patient_1.json new file mode 100644 index 000000000..13c9d3abe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anosmia_for_isobutyric_acid_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "anosmia_for_isobutyric_acid", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010633", + "label": "Partial anosmia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:207000", + "label": "Anosmia for isobutyric acid" + } + } + ], + "metaData": { + "created": "2024-06-11T17:52:11.041120Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anterior_chamber_cleavage_disorder_cerebellar_hypoplasia_hypothyroidism_and_tracheal_stenosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anterior_chamber_cleavage_disorder_cerebellar_hypoplasia_hypothyroidism_and_tracheal_stenosis_patient_1.json new file mode 100644 index 000000000..f2e57d6fe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anterior_chamber_cleavage_disorder_cerebellar_hypoplasia_hypothyroidism_and_tracheal_stenosis_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "anterior_chamber_cleavage_disorder,_cerebellar_hypoplasia,_hypothyroidism,_and_tracheal_stenosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008736", + "label": "Hypoplasia of penis" + } + }, + { + "type": { + "id": "HP:0000164", + "label": "Abnormality of the dentition" + } + }, + { + "type": { + "id": "HP:0000612", + "label": "Iris coloboma" + } + }, + { + "type": { + "id": "HP:0008240", + "label": "Secondary growth hormone deficiency" + } + }, + { + "type": { + "id": "HP:0003272", + "label": "Abnormal hip bone morphology" + } + }, + { + "type": { + "id": "HP:0025469", + "label": "Anagen effluvium" + } + }, + { + "type": { + "id": "HP:0040103", + "label": "Cutaneous stenosis of the external auditory canal" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601427", + "label": "Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis" + } + } + ], + "metaData": { + "created": "2024-06-11T19:57:55.598065Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anterior_segment_dysgenesis_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anterior_segment_dysgenesis_1_patient_1.json new file mode 100644 index 000000000..f13c04482 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anterior_segment_dysgenesis_1_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "anterior_segment_dysgenesis_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000531", + "label": "Corneal crystals" + } + }, + { + "type": { + "id": "HP:0000482", + "label": "Microcornea" + } + }, + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:107250", + "label": "Anterior segment dysgenesis 1" + } + } + ], + "metaData": { + "created": "2024-06-11T17:58:46.168368Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anterior_segment_dysgenesis_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anterior_segment_dysgenesis_2_patient_1.json new file mode 100644 index 000000000..a1defd7d3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anterior_segment_dysgenesis_2_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "anterior_segment_dysgenesis_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011484", + "label": "Posterior synechiae of the anterior chamber" + } + }, + { + "type": { + "id": "HP:0000647", + "label": "Sclerocornea" + } + }, + { + "type": { + "id": "HP:0100719", + "label": "Lens coloboma" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610256", + "label": "Anterior segment dysgenesis 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:30:48.826529Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anterior_segment_dysgenesis_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anterior_segment_dysgenesis_3_patient_1.json new file mode 100644 index 000000000..a9d20f1a8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anterior_segment_dysgenesis_3_patient_1.json @@ -0,0 +1,74 @@ +{ + "id": "anterior_segment_dysgenesis_3", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001320", + "label": "Cerebellar vermis hypoplasia" + } + }, + { + "type": { + "id": "HP:0005445", + "label": "Enlarged posterior fossa" + } + }, + { + "type": { + "id": "HP:0007990", + "label": "Hypoplastic iris stroma" + } + }, + { + "type": { + "id": "HP:0000659", + "label": "Peters anomaly" + } + }, + { + "type": { + "id": "HP:0004328", + "label": "Abnormal anterior eye segment morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601631", + "label": "Anterior segment dysgenesis 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:53:52.472410Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anterior_segment_dysgenesis_5_multiple_subtypes_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anterior_segment_dysgenesis_5_multiple_subtypes_patient_1.json new file mode 100644 index 000000000..232474b36 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anterior_segment_dysgenesis_5_multiple_subtypes_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "anterior_segment_dysgenesis_5,_multiple_subtypes", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000558", + "label": "Rieger anomaly" + } + }, + { + "type": { + "id": "HP:0008061", + "label": "Aplasia/Hypoplasia of the retina" + } + }, + { + "type": { + "id": "HP:0004328", + "label": "Abnormal anterior eye segment morphology" + } + }, + { + "type": { + "id": "HP:0000549", + "label": "Abnormal conjugate eye movement" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + } + }, + { + "type": { + "id": "HP:0000659", + "label": "Peters anomaly" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604229", + "label": "Anterior segment dysgenesis 5, multiple subtypes" + } + } + ], + "metaData": { + "created": "2024-06-11T20:31:18.883693Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anterior_segment_dysgenesis_6_multiple_subtypes_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anterior_segment_dysgenesis_6_multiple_subtypes_patient_1.json new file mode 100644 index 000000000..6a9d7b35a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anterior_segment_dysgenesis_6_multiple_subtypes_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "anterior_segment_dysgenesis_6,_multiple_subtypes", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011490", + "label": "Abnormal Descemet membrane morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617315", + "label": "Anterior segment dysgenesis 6, multiple subtypes" + } + } + ], + "metaData": { + "created": "2024-06-11T21:51:45.765187Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anterior_segment_dysgenesis_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anterior_segment_dysgenesis_8_patient_1.json new file mode 100644 index 000000000..6170a8c17 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anterior_segment_dysgenesis_8_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "anterior_segment_dysgenesis_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100693", + "label": "Iridodonesis" + } + }, + { + "type": { + "id": "HP:0012805", + "label": "Iris transillumination defect" + } + }, + { + "type": { + "id": "HP:0001083", + "label": "Ectopia lentis" + } + }, + { + "type": { + "id": "HP:0007676", + "label": "Hypoplasia of the iris" + } + }, + { + "type": { + "id": "HP:0009918", + "label": "Ectopia pupillae" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617319", + "label": "Anterior segment dysgenesis 8" + } + } + ], + "metaData": { + "created": "2024-06-11T19:46:34.216280Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Antiphospholipid_syndrome_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Antiphospholipid_syndrome_familial_patient_1.json new file mode 100644 index 000000000..576dc5658 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Antiphospholipid_syndrome_familial_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "antiphospholipid_syndrome,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025188", + "label": "Retinal vasculitis" + } + }, + { + "type": { + "id": "HP:0001973", + "label": "Autoimmune thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0004420", + "label": "Arterial thrombosis" + } + }, + { + "type": { + "id": "HP:0033724", + "label": "Cerebral venous sinus thrombosis" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0001098", + "label": "Abnormal fundus morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:107320", + "label": "Antiphospholipid syndrome, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T18:57:30.092231Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Antithrombin_III_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Antithrombin_III_deficiency_patient_1.json new file mode 100644 index 000000000..c9362490a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Antithrombin_III_deficiency_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "antithrombin_iii_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040226", + "label": "Decreased level of heparin co-factor II" + } + }, + { + "type": { + "id": "HP:0001977", + "label": "Abnormal thrombosis" + } + }, + { + "type": { + "id": "HP:0001976", + "label": "Reduced antithrombin III activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613118", + "label": "Antithrombin III deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T18:55:47.101108Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Antithrombin_familial_hemorrhagic_diathesis_due_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Antithrombin_familial_hemorrhagic_diathesis_due_to_patient_1.json new file mode 100644 index 000000000..70e4281c0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Antithrombin_familial_hemorrhagic_diathesis_due_to_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "antithrombin,_familial_hemorrhagic_diathesis_due_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:207300", + "label": "Antithrombin, familial hemorrhagic diathesis due to" + } + } + ], + "metaData": { + "created": "2024-06-11T19:42:37.574176Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Antley_Bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Antley_Bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis_patient_1.json new file mode 100644 index 000000000..5ba3ca612 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Antley_Bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "antley-bixler_syndrome_with_genital_anomalies_and_disordered_steroidogenesis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0001363", + "label": "Craniosynostosis" + } + }, + { + "type": { + "id": "HP:0001943", + "label": "Hypoglycemia" + } + }, + { + "type": { + "id": "HP:0001601", + "label": "Laryngomalacia" + } + }, + { + "type": { + "id": "HP:0008368", + "label": "Tarsal synostosis" + } + }, + { + "type": { + "id": "HP:0000041", + "label": "Chordee" + } + }, + { + "type": { + "id": "HP:0001586", + "label": "Vesicovaginal fistula" + } + }, + { + "type": { + "id": "HP:0002308", + "label": "Chiari malformation" + } + }, + { + "type": { + "id": "HP:0002980", + "label": "Femoral bowing" + } + }, + { + "type": { + "id": "HP:0031213", + "label": "Elevated circulating 17-hydroxyprogesterone concentration" + } + }, + { + "type": { + "id": "HP:0008163", + "label": "Decreased circulating cortisol level" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0000846", + "label": "Adrenal insufficiency" + } + }, + { + "type": { + "id": "HP:0001166", + "label": "Arachnodactyly" + } + }, + { + "type": { + "id": "HP:0000822", + "label": "Hypertension" + } + }, + { + "type": { + "id": "HP:0003031", + "label": "Ulnar bowing" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:201750", + "label": "Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis" + } + } + ], + "metaData": { + "created": "2024-06-11T21:23:27.375409Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Antley_Bixler_syndrome_without_genital_anomalies_or_disordered_steroidogenesis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Antley_Bixler_syndrome_without_genital_anomalies_or_disordered_steroidogenesis_patient_1.json new file mode 100644 index 000000000..bed63d883 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Antley_Bixler_syndrome_without_genital_anomalies_or_disordered_steroidogenesis_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "antley-bixler_syndrome_without_genital_anomalies_or_disordered_steroidogenesis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001838", + "label": "Rocker bottom foot" + } + }, + { + "type": { + "id": "HP:0000402", + "label": "Stenosis of the external auditory canal" + } + }, + { + "type": { + "id": "HP:0000059", + "label": "Hypoplastic labia majora" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0000453", + "label": "Choanal atresia" + } + }, + { + "type": { + "id": "HP:0004440", + "label": "Coronal craniosynostosis" + } + }, + { + "type": { + "id": "HP:0012385", + "label": "Camptodactyly" + } + }, + { + "type": { + "id": "HP:0003041", + "label": "Humeroradial synostosis" + } + }, + { + "type": { + "id": "HP:0040071", + "label": "Abnormal morphology of ulna" + } + }, + { + "type": { + "id": "HP:0200138", + "label": "Bilateral choanal atresia/stenosis" + } + }, + { + "type": { + "id": "HP:0012443", + "label": "Abnormal brain morphology" + } + }, + { + "type": { + "id": "HP:0000586", + "label": "Shallow orbits" + } + }, + { + "type": { + "id": "HP:0000148", + "label": "Vaginal atresia" + } + }, + { + "type": { + "id": "HP:0000774", + "label": "Narrow chest" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:207410", + "label": "Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis" + } + } + ], + "metaData": { + "created": "2024-06-11T17:44:40.971963Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anus_imperforate_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anus_imperforate_patient_1.json new file mode 100644 index 000000000..6024f2573 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anus_imperforate_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "anus,_imperforate", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002023", + "label": "Anal atresia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:207500", + "label": "Anus, imperforate" + } + } + ], + "metaData": { + "created": "2024-06-11T20:27:52.469980Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Anus_imperforate_patient_2.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anus_imperforate_patient_2.json new file mode 100644 index 000000000..90efad894 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Anus_imperforate_patient_2.json @@ -0,0 +1,45 @@ +{ + "id": "anus,_imperforate", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002023", + "label": "Anal atresia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301800", + "label": "Anus, imperforate" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:21.851166Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_aneurysm_abdominal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_aneurysm_abdominal_patient_1.json new file mode 100644 index 000000000..e98ca5523 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_aneurysm_abdominal_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "aortic_aneurysm,_abdominal", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P71Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005112", + "label": "Abdominal aortic aneurysm" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:100070", + "label": "Aortic aneurysm, abdominal" + } + } + ], + "metaData": { + "created": "2024-06-11T18:24:39.618131Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_aneurysm_familial_thoracic_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_aneurysm_familial_thoracic_10_patient_1.json new file mode 100644 index 000000000..621003719 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_aneurysm_familial_thoracic_10_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "aortic_aneurysm,_familial_thoracic_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000678", + "label": "Dental crowding" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0002616", + "label": "Aortic root aneurysm" + } + }, + { + "type": { + "id": "HP:0000098", + "label": "Tall stature" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0031646", + "label": "Fusiform aortic arch aneurysm" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0002621", + "label": "Atherosclerosis" + } + }, + { + "type": { + "id": "HP:0031643", + "label": "Fusiform ascending tubular aorta aneurysm" + } + }, + { + "type": { + "id": "HP:0001065", + "label": "Striae distensae" + } + }, + { + "type": { + "id": "HP:0005129", + "label": "Congenital hypertrophy of left ventricle" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617168", + "label": "Aortic aneurysm, familial thoracic 10" + } + } + ], + "metaData": { + "created": "2024-06-11T18:52:36.941174Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_aneurysm_familial_thoracic_11_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_aneurysm_familial_thoracic_11_susceptibility_to_patient_1.json new file mode 100644 index 000000000..9d1b77dd4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_aneurysm_familial_thoracic_11_susceptibility_to_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "aortic_aneurysm,_familial_thoracic_11,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004933", + "label": "Ascending aortic dissection" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617349", + "label": "Aortic aneurysm, familial thoracic 11, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T23:56:41.890955Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_aneurysm_familial_thoracic_12_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_aneurysm_familial_thoracic_12_patient_1.json new file mode 100644 index 000000000..73ce19719 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_aneurysm_familial_thoracic_12_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "aortic_aneurysm,_familial_thoracic_12", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002616", + "label": "Aortic root aneurysm" + } + }, + { + "type": { + "id": "HP:0001647", + "label": "Bicuspid aortic valve" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0012727", + "label": "Thoracic aortic aneurysm" + } + }, + { + "type": { + "id": "HP:0031653", + "label": "Abnormal heart valve physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": 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+++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_aneurysm_familial_thoracic_4_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "aortic_aneurysm,_familial_thoracic_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100546", + "label": "Carotid artery stenosis" + } + }, + { + "type": { + "id": "HP:0012493", + "label": "Middle cerebral artery stenosis" + } + }, + { + "type": { + "id": "HP:0012494", + "label": "Anterior cerebral artery stenosis" + } + }, + { + "type": { + "id": "HP:0012180", + "label": "Cystic medial necrosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:132900", + "label": "Aortic aneurysm, familial thoracic 4" + } + } + ], + "metaData": { + "created": "2024-06-11T21:08:00.046886Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_aneurysm_familial_thoracic_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_aneurysm_familial_thoracic_7_patient_1.json new file mode 100644 index 000000000..791663741 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_aneurysm_familial_thoracic_7_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "aortic_aneurysm,_familial_thoracic_7", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P41Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004942", + "label": "Aortic aneurysm" + } + }, + { + "type": { + "id": "HP:0031649", + "label": "Aortic rupture" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613780", + "label": "Aortic aneurysm, familial thoracic 7" + } + } + ], + "metaData": { + "created": "2024-06-11T20:50:23.929392Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", 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}, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012499", + "label": "Descending aortic dissection" + } + }, + { + "type": { + "id": "HP:0033353", + "label": "Abnormal blood vessel morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615436", + "label": "Aortic aneurysm, familial thoracic 8" + } + } + ], + "metaData": { + "created": "2024-06-11T19:15:06.141486Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_aneurysm_familial_thoracic_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_aneurysm_familial_thoracic_9_patient_1.json new file mode 100644 index 000000000..57c21cff6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_aneurysm_familial_thoracic_9_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "aortic_aneurysm,_familial_thoracic_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001519", + "label": "Disproportionate tall stature" + } + }, + { + "type": { + "id": "HP:0012727", + "label": "Thoracic aortic aneurysm" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0100775", + "label": "Dural ectasia" + } + }, + { + "type": { + "id": "HP:0006687", + "label": "Aortic tortuosity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616166", + "label": "Aortic 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000000000..ad99a8626 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_arch_anomaly_with_peculiar_facies_and_mental_retardation_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "aortic_arch_anomaly_with_peculiar_facies_and_mental_retardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:107500", + "label": "Aortic arch anomaly with peculiar facies and mental retardation" + } + } + ], + "metaData": { + "created": "2024-06-11T23:21:02.203957Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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+ { + "type": { + "id": "HP:0031614", + "label": "Inferior retinal coloboma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:107550", + "label": "Aortic arch interruption, facial palsy, and retinal coloboma" + } + } + ], + "metaData": { + "created": "2024-06-11T20:53:41.641052Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_valve_disease_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_valve_disease_1_patient_1.json new file mode 100644 index 000000000..14ef524d8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_valve_disease_1_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "aortic_valve_disease_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001646", + "label": "Abnormal aortic valve morphology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:109730", + "label": "Aortic valve disease 1" + } + } + ], + "metaData": { + "created": "2024-06-11T17:50:20.604402Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + 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"id": "HP:0031313", + "label": "Abdominal aortic calcification" + } + }, + { + "type": { + "id": "HP:0001653", + "label": "Mitral regurgitation" + } + }, + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614823", + "label": "Aortic valve disease 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:48:11.841517Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_valve_disease_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_valve_disease_3_patient_1.json new file mode 100644 index 000000000..fb9d1b2bb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aortic_valve_disease_3_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "aortic_valve_disease_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + }, + { + "type": { + "id": "HP:0002616", + "label": "Aortic root aneurysm" + } + }, + { + "type": { + "id": "HP:0004933", + "label": "Ascending aortic dissection" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618496", + "label": "Aortic valve disease 3" + } + } + ], + "metaData": { + "created": "2024-06-11T23:38:17.237644Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", 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"type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0012725", + "label": "Cutaneous syndactyly" + } + }, + { + "type": { + "id": "HP:0000348", + "label": "High forehead" + } + }, + { + "type": { + "id": "HP:0002663", + "label": "Delayed epiphyseal ossification" + } + }, + { + "type": { + "id": "HP:0100702", + "label": "Arachnoid cyst" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0001061", + "label": "Acne" + } + }, + { + "type": { + "id": "HP:0000586", + "label": "Shallow orbits" + } + }, + { + "type": { + "id": "HP:0001507", + "label": "Growth abnormality" + } + }, + { + "type": { + "id": "HP:0007099", + "label": "Chiari type I malformation" + } + }, + { + "type": { + "id": "HP:0011304", + "label": "Broad thumb" + } + }, + { + "type": { + "id": "HP:0000244", + "label": "Brachyturricephaly" + } + }, + { + "type": { + "id": "HP:0007343", + "label": "Abnormal morphology of the limbic system" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0000303", + "label": "Mandibular prognathia" + } + }, + { + "type": { + "id": "HP:0005048", + "label": "Synostosis of carpal bones" + } + }, + { + "type": { + "id": "HP:0002996", + "label": "Limited elbow movement" + } + }, + { + "type": { + "id": "HP:0000768", + "label": "Pectus carinatum" + } + }, + { + "type": { + "id": "HP:0002032", + "label": "Esophageal atresia" + } + }, + { + "type": { + "id": "HP:0000272", + "label": "Malar flattening" + } + }, + { + "type": { + "id": "HP:0002948", + "label": "Vertebral fusion" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0034220", + "label": "Temporal lobe megalencephaly" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral 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"HP:0000389", + "label": "Chronic otitis media" + } + }, + { + "type": { + "id": "HP:0000586", + "label": "Shallow orbits" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:101200", + "label": "Apert syndrome" + } + } + ], + "metaData": { + "created": "2024-06-12T00:29:56.960642Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aphalangia_partial_with_syndactyly_and_duplication_of_metatarsaliv_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aphalangia_partial_with_syndactyly_and_duplication_of_metatarsaliv_patient_1.json new file mode 100644 index 000000000..d0f6a5e31 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aphalangia_partial_with_syndactyly_and_duplication_of_metatarsaliv_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "aphalangia,_partial,_with_syndactyly_and_duplication_of_metatarsaliv", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002751", + "label": "Kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001159", + "label": "Syndactyly" + } + }, + { + "type": { + "id": "HP:0002060", + "label": "Abnormal cerebral morphology" + } + }, + { + "type": { + "id": "HP:0011917", + "label": "Short 5th toe" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600384", + "label": "Aphalangia, partial, with syndactyly and duplication of metatarsaliv" + } + } + ], + "metaData": { + "created": "2024-06-11T23:49:48.402183Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aplasia_cutis_congenita_high_myopia_and_cone_rod_dysfunction_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aplasia_cutis_congenita_high_myopia_and_cone_rod_dysfunction_patient_1.json new file mode 100644 index 000000000..ba67e8684 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aplasia_cutis_congenita_high_myopia_and_cone_rod_dysfunction_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "aplasia_cutis_congenita,_high_myopia,_and_cone-rod_dysfunction", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007536", + "label": "Aplasia cutis congenita of midline scalp vertex" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601075", + "label": "Aplasia cutis congenita, high myopia, and cone-rod dysfunction" + } + } + ], + "metaData": { + "created": "2024-06-11T23:10:58.427770Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aplasia_cutis_congenita_nonsyndromic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aplasia_cutis_congenita_nonsyndromic_patient_1.json new file mode 100644 index 000000000..a518ab17b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aplasia_cutis_congenita_nonsyndromic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "aplasia_cutis_congenita,_nonsyndromic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004471", + "label": "Aplasia cutis congenita over the scalp vertex" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:107600", + "label": "Aplasia cutis congenita, nonsyndromic" + } + } + ], + "metaData": { + "created": "2024-06-11T21:29:51.071481Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aplasia_cutis_congenita_of_limbs_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aplasia_cutis_congenita_of_limbs_recessive_patient_1.json new file mode 100644 index 000000000..903bef06d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aplasia_cutis_congenita_of_limbs_recessive_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "aplasia_cutis_congenita_of_limbs,_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001057", + "label": "Aplasia cutis congenita" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600360", + "label": "Aplasia cutis congenita of limbs, recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T18:05:17.756169Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aplasia_cutis_congenita_with_intestinal_lymphangiectasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aplasia_cutis_congenita_with_intestinal_lymphangiectasia_patient_1.json new file mode 100644 index 000000000..32fc918ad --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aplasia_cutis_congenita_with_intestinal_lymphangiectasia_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "aplasia_cutis_congenita_with_intestinal_lymphangiectasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031842", + "label": "Lymphangiectasis" + } + }, + { + "type": { + "id": "HP:0040088", + "label": "Abnormal lymphocyte count" + } + }, + { + "type": { + "id": "HP:0430022", + "label": "Abnormality of the sphenoid sinus" + } + }, + { + "type": { + "id": "HP:0012050", + "label": "Anasarca" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:207731", + "label": "Aplasia cutis congenita with intestinal lymphangiectasia" + } + } + ], + "metaData": { + "created": "2024-06-11T21:17:20.389275Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aplasia_of_extensor_muscles_of_fingers_unilateral_with_generalizedpolyneuropathy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aplasia_of_extensor_muscles_of_fingers_unilateral_with_generalizedpolyneuropathy_patient_1.json new file mode 100644 index 000000000..f188b5417 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aplasia_of_extensor_muscles_of_fingers_unilateral_with_generalizedpolyneuropathy_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "aplasia_of_extensor_muscles_of_fingers,_unilateral,_with_generalizedpolyneuropathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003011", + "label": "Abnormality of the musculature" + } + }, + { + "type": { + "id": "HP:0007550", + "label": "Hypohidrosis or hyperhidrosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:207740", + "label": "Aplasia of extensor muscles of fingers, unilateral, with generalizedpolyneuropathy" + } + } + ], + "metaData": { + "created": "2024-06-11T23:46:13.680536Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aplasia_of_lacrimal_and_salivary_glands_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aplasia_of_lacrimal_and_salivary_glands_patient_1.json new file mode 100644 index 000000000..22fd52942 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aplasia_of_lacrimal_and_salivary_glands_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "aplasia_of_lacrimal_and_salivary_glands", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000217", + "label": "Xerostomia" + } + }, + { + "type": { + "id": "HP:0007732", + "label": "Lacrimal gland hypoplasia" + } + }, + { + "type": { + "id": "HP:0007656", + "label": "Lacrimal gland aplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:180920", + "label": "Aplasia of lacrimal and salivary glands" + } + } + ], + "metaData": { + "created": "2024-06-11T18:03:09.872426Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aplastic_anemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aplastic_anemia_patient_1.json new file mode 100644 index 000000000..50149af0b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aplastic_anemia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "aplastic_anemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001915", + "label": "Aplastic anemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609135", + "label": "Aplastic anemia" + } + } + ], + "metaData": { + "created": "2024-06-11T20:40:40.416892Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Apnea_central_sleep_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Apnea_central_sleep_patient_1.json new file mode 100644 index 000000000..6f6a61baf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Apnea_central_sleep_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "apnea,_central_sleep", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001699", + "label": "Sudden death" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:107640", + "label": "Apnea, central sleep" + } + } + ], + "metaData": { + "created": "2024-06-11T18:05:13.594789Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Apnea_obstructive_sleep_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Apnea_obstructive_sleep_patient_1.json new file mode 100644 index 000000000..104f201a3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Apnea_obstructive_sleep_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "apnea,_obstructive_sleep", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001262", + "label": "Excessive daytime somnolence" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:107650", + "label": "Apnea, obstructive sleep" + } + } + ], + "metaData": { + "created": "2024-06-11T19:00:36.720964Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Apolipoprotein_C_II_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Apolipoprotein_C_II_deficiency_patient_1.json new file mode 100644 index 000000000..1fe28e75d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Apolipoprotein_C_II_deficiency_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "apolipoprotein_c-ii_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002155", + "label": "Hypertriglyceridemia" + } + }, + { + "type": { + "id": "HP:0000660", + "label": "Lipemia retinalis" + } + }, + { + "type": { + "id": "HP:0012238", + "label": "Increased circulating chylomicron concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:207750", + "label": "Apolipoprotein C-II deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T23:14:27.046483Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Apparent_mineralocorticoid_excess_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Apparent_mineralocorticoid_excess_patient_1.json new file mode 100644 index 000000000..e2d31cc0b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Apparent_mineralocorticoid_excess_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "apparent_mineralocorticoid_excess", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000822", + "label": "Hypertension" + } + }, + { + "type": { + "id": "HP:0200114", + "label": "Metabolic alkalosis" + } + }, + { + "type": { + "id": "HP:0001095", + "label": "Hypertensive retinopathy" + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:218030", + "label": "Apparent mineralocorticoid excess" + } + } + ], + "metaData": { + "created": "2024-06-11T20:35:12.379020Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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"diseases": [ + { + "term": { + "id": "OMIM:107700", + "label": "Appendicitis, proneness to" + } + } + ], + "metaData": { + "created": "2024-06-11T22:47:13.404530Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Aprosencephaly_and_cerebellar_dysgenesis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aprosencephaly_and_cerebellar_dysgenesis_patient_1.json new file mode 100644 index 000000000..ce0f4570c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aprosencephaly_and_cerebellar_dysgenesis_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "aprosencephaly_and_cerebellar_dysgenesis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601374", + "label": "Aprosencephaly and cerebellar dysgenesis" + } + } + ], + "metaData": { + "created": "2024-06-11T21:37:05.804612Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in 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"resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arboleda_Tham_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arboleda_Tham_syndrome_patient_1.json new file mode 100644 index 000000000..e3165daba --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arboleda_Tham_syndrome_patient_1.json @@ -0,0 +1,411 @@ +{ + "id": "arboleda-tham_syndrome", + "subject": { + "id": "patient1" + }, + 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nasal morphology" + } + }, + { + "type": { + "id": "HP:0012719", + "label": "Functional abnormality of the gastrointestinal tract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616268", + "label": "Arboleda-Tham syndrome" + } + } + ], + "metaData": { + "created": "2024-06-12T02:21:03.681761Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Argininemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Argininemia_patient_1.json new file mode 100644 index 000000000..f6dba9192 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Argininemia_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "argininemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001413", + "label": "Micronodular cirrhosis" + } + }, + { + "type": { + "id": "HP:0006580", + "label": "Portal fibrosis" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:4000203", + "label": "Reduced erythrocyte arginase activity" + } + }, + { + "type": { + "id": "HP:0000737", + "label": "Irritability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:207800", + "label": "Argininemia" + } + } + ], + "metaData": { + "created": "2024-06-11T22:45:05.099923Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": 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"id": "HP:0034734", + "label": "Elevated CSF argininosuccinic acid concentration" + } + }, + { + "type": { + "id": "HP:0001951", + "label": "Episodic ammonia intoxication" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001395", + "label": "Hepatic fibrosis" + } + }, + { + "type": { + "id": "HP:0001950", + "label": "Respiratory alkalosis" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0032491", + "label": "Increased circulating argininosuccinic acid" + } + }, + { + "type": { + "id": "HP:0008872", + "label": "Feeding difficulties in infancy" + } + }, + { + "type": { + "id": "HP:0002181", + "label": "Cerebral edema" + } + }, + { + "type": { + "id": "HP:0011359", + "label": "Dry hair" + } + }, + { + "type": { + "id": "HP:0002038", + "label": "Protein avoidance" + } + }, + { + "type": { + "id": "HP:0005961", + "label": "Hypoargininemia" + } + }, + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arrhythmogenic_right_ventricular_dysplasia_familial_1_patient_1.json new file mode 100644 index 000000000..40179c5d7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arrhythmogenic_right_ventricular_dysplasia_familial_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "arrhythmogenic_right_ventricular_dysplasia,_familial,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001645", + "label": "Sudden cardiac death" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:107970", + "label": "Arrhythmogenic right ventricular dysplasia, familial, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:37:42.071204Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arrhythmogenic_right_ventricular_dysplasia_familial_4_patient_1.json new file mode 100644 index 000000000..b9631cdb4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arrhythmogenic_right_ventricular_dysplasia_familial_4_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "arrhythmogenic_right_ventricular_dysplasia,_familial,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011663", + "label": "Right ventricular cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0004308", + "label": "Ventricular arrhythmia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602087", + "label": "Arrhythmogenic right ventricular dysplasia, familial, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T21:04:03.290526Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001635", + "label": "Congestive heart failure" + } + }, + { + "type": { + "id": "HP:0033771", + "label": "Pleuritic chest pain" + } + }, + { + "type": { + "id": "HP:0031972", + "label": "Presyncope" + } + }, + { + "type": { + "id": "HP:0001962", + "label": "Palpitations" + } + }, + { + "type": { + "id": "HP:0100660", + "label": "Dyskinesia" + } + }, + { + "type": { + "id": "HP:0031676", + "label": "Monomorphic ventricular tachycardia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604400", + "label": "Arrhythmogenic right ventricular dysplasia, familial, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T19:23:02.328352Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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ventricular contraction" + } + }, + { + "type": { + "id": "HP:0011663", + "label": "Right ventricular cardiomyopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604401", + "label": "Arrhythmogenic right ventricular dysplasia, familial, 6" + } + } + ], + "metaData": { + "created": "2024-06-11T19:45:01.162674Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arrhythmogenic_right_ventricular_dysplasia_familial_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arrhythmogenic_right_ventricular_dysplasia_familial_8_patient_1.json new file mode 100644 index 000000000..beca8988e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arrhythmogenic_right_ventricular_dysplasia_familial_8_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "arrhythmogenic_right_ventricular_dysplasia,_familial,_8", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P73Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001649", + "label": "Tachycardia" + } + }, + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + }, + { + "type": { + "id": "HP:0001645", + "label": "Sudden cardiac death" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607450", + "label": "Arrhythmogenic right ventricular dysplasia, familial, 8" + } + } + ], + "metaData": { + "created": "2024-06-11T19:41:20.121031Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arrhythmogenic_right_ventricular_dysplasia_familial_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arrhythmogenic_right_ventricular_dysplasia_familial_9_patient_1.json new file mode 100644 index 000000000..d4ea2b895 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arrhythmogenic_right_ventricular_dysplasia_familial_9_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "arrhythmogenic_right_ventricular_dysplasia,_familial,_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004756", + "label": "Ventricular tachycardia" + } + }, + { + "type": { + "id": "HP:0011663", + "label": "Right ventricular cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0001962", + "label": "Palpitations" + } + }, + { + "type": { + "id": "HP:0006698", + "label": "Dilatation of the ventricular cavity" + } + }, + { + "type": { + "id": "HP:0006677", + "label": "Prolonged QRS complex" + } + }, + { + "type": { + "id": "HP:0034304", + "label": "Epsilon wave" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609040", + "label": "Arrhythmogenic right ventricular dysplasia, familial, 9" + } + } + ], + "metaData": { + "created": "2024-06-11T20:53:44.968401Z", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arterial_calcification_generalized_of_infancy_1_patient_1.json @@ -0,0 +1,104 @@ +{ + "id": "arterial_calcification,_generalized,_of_infancy,_1", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004912", + "label": "Hypophosphatemic rickets" + } + }, + { + "type": { + "id": "HP:0001920", + "label": "Renal artery stenosis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0001722", + "label": "High-output congestive heart failure" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0003070", + "label": "Elbow ankylosis" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + }, + { + "type": { + "id": "HP:0003207", + "label": "Arterial calcification" + } + }, + { + "type": { + "id": "HP:0007985", + "label": "Retinal arteriolar occlusion" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:208000", + "label": "Arterial calcification, generalized, of infancy, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:12:42.541618Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arterial_calcification_generalized_of_infancy_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arterial_calcification_generalized_of_infancy_2_patient_1.json new file mode 100644 index 000000000..9ff1f70e7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arterial_calcification_generalized_of_infancy_2_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "arterial_calcification,_generalized,_of_infancy,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030149", + "label": "Cardiogenic shock" + } + }, + { + "type": { + "id": "HP:0005180", + "label": "Tricuspid regurgitation" + } + }, + { + "type": { + "id": "HP:0003207", + "label": "Arterial calcification" + } + }, + { + "type": { + "id": "HP:0012664", + "label": "Reduced left ventricular ejection fraction" + } + }, + { + "type": { + "id": "HP:0001658", + "label": "Myocardial infarction" + } + }, + { + "type": { + "id": "HP:0001635", + "label": "Congestive heart failure" + } + }, + { + "type": { + "id": "HP:0025015", + "label": "Abnormal vascular morphology" + } + }, + { + "type": { + "id": "HP:0011675", + "label": "Arrhythmia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614473", + "label": "Arterial calcification, generalized, of infancy, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:05:06.605736Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arterial_dissection_with_lentiginosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arterial_dissection_with_lentiginosis_patient_1.json new file mode 100644 index 000000000..a5cfbb497 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arterial_dissection_with_lentiginosis_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "arterial_dissection_with_lentiginosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005294", + "label": "Arterial dissection" + } + }, + { + "type": { + "id": "HP:0012733", + "label": "Macule" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600459", + "label": "Arterial dissection with lentiginosis" + } + } + ], + "metaData": { + "created": "2024-06-11T19:41:28.833711Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"HP:0006687", + "label": "Aortic tortuosity" + } + }, + { + "type": { + "id": "HP:0002140", + "label": "Ischemic stroke" + } + }, + { + "type": { + "id": "HP:0000023", + "label": "Inguinal hernia" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0006149", + "label": "Increased laxity of fingers" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0001027", + "label": "Soft, doughy skin" + } + }, + { + "type": { + "id": "HP:0000915", + "label": "Pectus excavatum of inferior sternum" + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + }, + { + "type": { + "id": "HP:0001977", + "label": "Abnormal thrombosis" + } + }, + { + "type": { + "id": "HP:0033353", + "label": "Abnormal blood vessel morphology" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0000276", + "label": "Long face" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:208050", + "label": "Arterial tortuosity syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:06:29.373114Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arteries_anomalies_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arteries_anomalies_of_patient_1.json new file mode 100644 index 000000000..ec7bd57f9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arteries_anomalies_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "arteries,_anomalies_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001626", + "label": "Abnormality of the cardiovascular system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:108000", + "label": "Arteries, anomalies of" + } + } + ], + "metaData": { + "created": "2024-06-11T18:31:45.077655Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arteriosclerosis_severe_juvenile_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arteriosclerosis_severe_juvenile_patient_1.json new file mode 100644 index 000000000..661d8d42c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arteriosclerosis_severe_juvenile_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "arteriosclerosis,_severe_juvenile", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002634", + "label": "Arteriosclerosis" + } + }, + { + "type": { + "id": "HP:0002592", + "label": "Gastric ulcer" + } + }, + { + "type": { + "id": "HP:0030053", + "label": "Stiff skin" + } + }, + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0009803", + "label": "Short phalanx of finger" + } + }, + { + "type": { + "id": "HP:0000823", + "label": "Delayed puberty" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:208060", + "label": "Arteriosclerosis, severe juvenile" + } + } + ], + "metaData": { + "created": "2024-06-12T02:23:19.141812Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arteriovenous_malformation_of_the_brain_somatic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arteriovenous_malformation_of_the_brain_somatic_patient_1.json new file mode 100644 index 000000000..29fe61414 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arteriovenous_malformation_of_the_brain_somatic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "arteriovenous_malformation_of_the_brain,_somatic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002408", + "label": "Cerebral arteriovenous malformation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:108010", + "label": "Arteriovenous malformation of the brain, somatic" + } + } + ], + "metaData": { + "created": "2024-06-11T18:32:58.079452Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_Like_hand_anomaly_and_sensorineural_deafness_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_Like_hand_anomaly_and_sensorineural_deafness_patient_1.json new file mode 100644 index 000000000..f505ecb27 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_Like_hand_anomaly_and_sensorineural_deafness_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "arthrogryposis-like_hand_anomaly_and_sensorineural_deafness", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002804", + "label": "Arthrogryposis multiplex congenita" + } + }, + { + "type": { + "id": "HP:0005612", + "label": "Arthrogryposis-like hand anomaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:108200", + "label": "Arthrogryposis-Like hand anomaly and sensorineural deafness" + } + } + ], + "metaData": { + "created": "2024-06-11T17:45:12.430657Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_and_ectodermal_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_and_ectodermal_dysplasia_patient_1.json new file mode 100644 index 000000000..a57126a25 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_and_ectodermal_dysplasia_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "arthrogryposis_and_ectodermal_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000966", + "label": "Hypohidrosis" + } + }, + { + "type": { + "id": "HP:0002804", + "label": "Arthrogryposis multiplex congenita" + } + }, + { + "type": { + "id": "HP:0200007", + "label": "Abnormal size of the palpebral fissures" + } + }, + { + "type": { + "id": "HP:0003498", + "label": "Disproportionate short stature" + } + }, + { + "type": { + "id": "HP:0004428", + "label": "Elfin facies" + }, + "modifiers": [ + { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_cleft_palate_craniosynostosis_and_impaired_intellectual_development_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "arthrogryposis,_cleft_palate,_craniosynostosis,_and_impaired_intellectual_development", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000076", + "label": "Vesicoureteral reflux" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001363", + "label": "Craniosynostosis" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_congenital_lower_limb_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_congenital_lower_limb_X_linked_patient_1.json new file mode 100644 index 000000000..f01dca10b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_congenital_lower_limb_X_linked_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "arthrogryposis,_congenital,_lower_limb,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0003272", + "label": "Abnormal hip bone morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300158", + "label": "Arthrogryposis, congenital, lower limb, X-linked" + } + } + ], + "metaData": { + "created": 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@@ +{ + "id": "arthrogryposis,_distal,_type_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002803", + "label": "Congenital contracture" + } + }, + { + "type": { + "id": "HP:0034392", + "label": "Joint contracture" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:187370", + "label": "Arthrogryposis, distal, type 10" + } + } + ], + "metaData": { + "created": "2024-06-11T22:26:28.209749Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_11_patient_1.json new file mode 100644 index 000000000..a9776cec4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_11_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "arthrogryposis,_distal,_type_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012385", + "label": "Camptodactyly" + } + }, + { + "type": { + "id": "HP:0002996", + "label": "Limited elbow movement" + } + }, + { + "type": { + "id": "HP:0006077", + "label": "Absent proximal finger flexion creases" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620019", + "label": "Arthrogryposis, distal, type 11" + } + } + ], + "metaData": { + "created": "2024-06-11T21:20:40.691429Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_12_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_12_patient_1.json new file mode 100644 index 000000000..8dc97ce7d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_12_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "arthrogryposis,_distal,_type_12", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002942", + "label": "Thoracic kyphosis" + } + }, + { + "type": { + "id": "HP:0003306", + "label": "Spinal rigidity" + } + }, + { + "type": { + "id": "HP:0031006", + "label": "Acroparesthesia" + } + }, + { + "type": { + "id": "HP:0006089", + "label": "Palmar hyperhidrosis" + } + }, + { + "type": { + "id": "HP:0004209", + "label": "Clinodactyly of the 5th finger" + } + }, + { + "type": { + "id": "HP:0009884", + "label": "Tapered distal phalanges of finger" + } + }, + { + "type": { + "id": "HP:0000023", + "label": "Inguinal hernia" + } + }, + { + "type": { + "id": "HP:0006466", + "label": "Ankle flexion contracture" + } + }, + { + "type": { + "id": "HP:0005879", + "label": "Congenital finger flexion contractures" + } + }, + { + "type": { + "id": "HP:0001771", + "label": "Achilles tendon contracture" + } + }, + { + "type": { + "id": "HP:0002650", + "label": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_1A_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_1A_patient_1.json new file mode 100644 index 000000000..18c31e5aa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_1A_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "arthrogryposis,_distal,_type_1a", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033142", + "label": "Long nasal bridge" + } + }, + { + "type": { + "id": "HP:0003184", + "label": "Decreased hip abduction" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0012385", + "label": "Camptodactyly" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0010557", + "label": "Overlapping fingers" + } + }, + { + "type": { + "id": "HP:0000508", 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"OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_3_patient_1.json new file mode 100644 index 000000000..8947055e9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_3_patient_1.json @@ -0,0 +1,177 @@ +{ + "id": "arthrogryposis,_distal,_type_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003199", + "label": "Decreased muscle mass" + } + }, + { + "type": { + "id": "HP:0002751", + "label": "Kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:6000505", + "label": "3-5 finger cutaneous syndactyly" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0031770", + "label": "Epicanthus palpebralis" + } + }, + { + "type": { + "id": "HP:0005612", + "label": "Arthrogryposis-like hand anomaly" + } + }, + { + "type": { + "id": "HP:0000915", + "label": "Pectus excavatum of inferior sternum" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0002705", + "label": "High, narrow palate" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0003498", + "label": "Disproportionate short stature" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0006055", + "label": "Ulnar deviated club hands" + } + }, + { + "type": { + "id": "HP:0001371", + "label": "Flexion contracture" + } + }, + { + "type": { + "id": "HP:0001376", + "label": "Limitation of joint mobility" + } + }, + { + "type": { + "id": "HP:0410005", + "label": "Cleft hard palate" + } + }, + { + "type": { + "id": "HP:0008689", + "label": "Bilateral cryptorchidism" + } + }, + { + "type": { + "id": "HP:0011844", + "label": "Abnormal appendicular skeleton morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:114300", + "label": "Arthrogryposis, distal, type 3" + } + } + ], + "metaData": { + "created": "2024-06-11T20:12:43.984943Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_4_patient_1.json new file mode 100644 index 000000000..02c3707ca --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_4_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "arthrogryposis,_distal,_type_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100499", + "label": "Tibial deviation of toes" + } + }, + { + "type": { + "id": "HP:0002162", + 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phalangeal joint morphology of the hand" + } + }, + { + "type": { + "id": "HP:0000954", + "label": "Single transverse palmar crease" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609128", + "label": "Arthrogryposis, distal, type 4" + } + } + ], + "metaData": { + "created": "2024-06-11T22:15:10.065097Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_5D_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_5D_patient_1.json new file mode 100644 index 000000000..1242eb668 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_5D_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "arthrogryposis,_distal,_type_5d", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000194", + "label": "Open mouth" + } + }, + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0006201", + "label": "Hypermobility of distal interphalangeal joints" + } + }, + { + "type": { + "id": "HP:0012473", + "label": "Tongue atrophy" + } + }, + { + "type": { + "id": "HP:0006467", + "label": "Limited shoulder movement" + } + }, + { + "type": { + "id": "HP:0001374", + "label": "Congenital hip dislocation" + } + }, + { + "type": { + "id": "HP:0006389", + "label": "Limited knee flexion" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615065", + "label": "Arthrogryposis, distal, type 5D" + } + } + ], + "metaData": { + "created": "2024-06-11T22:19:25.219216Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_5_patient_1.json new file mode 100644 index 000000000..78cf4c4f2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_5_patient_1.json @@ -0,0 +1,153 @@ +{ + "id": "arthrogryposis,_distal,_type_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003199", + "label": "Decreased muscle mass" + } + }, + { + "type": { + "id": "HP:0005684", + "label": "Distal arthrogryposis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0000490", + "label": "Deeply set eye" + } + }, + { + "type": { + "id": "HP:0012392", + "label": "Jaw hyporeflexia" + } + }, + { + "type": { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_7_patient_1.json new file mode 100644 index 000000000..0b1f80356 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_type_7_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "arthrogryposis,_distal,_type_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002804", + "label": "Arthrogryposis multiplex congenita" + } + }, + { + "type": { + "id": "HP:0000211", + "label": "Trismus" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0001374", + "label": "Congenital hip dislocation" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + } + }, + { + "type": { + "id": "HP:0100261", + "label": "Abnormal tendon morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:158300", + "label": "Arthrogryposis, distal, type 7" + } + } + ], + "metaData": { + "created": "2024-06-11T22:10:42.453949Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_with_impaired_proprioception_and_touch_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_with_impaired_proprioception_and_touch_patient_1.json new file mode 100644 index 000000000..f4fcadd54 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_distal_with_impaired_proprioception_and_touch_patient_1.json @@ -0,0 +1,218 @@ +{ + "id": "arthrogryposis,_distal,_with_impaired_proprioception_and_touch", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0003397", + "label": "Generalized hypotonia due to defect at the neuromuscular junction" + } + }, + { + "type": { + "id": "HP:0008935", 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_hyperkeratosis_lethal_form_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_hyperkeratosis_lethal_form_patient_1.json new file mode 100644 index 000000000..1357e1a14 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_hyperkeratosis_lethal_form_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "arthrogryposis_-_hyperkeratosis,_lethal_form", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002804", + "label": "Arthrogryposis multiplex congenita" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:208158", + "label": "Arthrogryposis - hyperkeratosis, lethal form" + } + } + ], + "metaData": { + "created": "2024-06-11T21:38:12.538896Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_mental_retardation_and_seizures_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_mental_retardation_and_seizures_patient_1.json new file mode 100644 index 000000000..1b5bee3db --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_mental_retardation_and_seizures_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "arthrogryposis,_mental_retardation,_and_seizures", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002121", + "label": "Generalized non-motor (absence) seizure" + } + }, + { + "type": { + "id": "HP:0002804", + "label": "Arthrogryposis multiplex congenita" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000277", + "label": "Abnormal mandible morphology" + } + }, + { + "type": { + "id": "HP:0006852", + "label": "Episodic generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:0000253", + "label": "Progressive microcephaly" + } + }, + { + "type": { + "id": "HP:0005191", + "label": "Congenital knee dislocation" + } + }, + { + "type": { + "id": "HP:0032856", + "label": "Focal aware bilateral motor seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615553", + "label": "Arthrogryposis, mental retardation, and seizures" + } + } + ], + "metaData": { + "created": "2024-06-11T18:07:35.323391Z", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_multiplex_congenita_3_myogenic_type_patient_1.json @@ -0,0 +1,153 @@ +{ + "id": "arthrogryposis_multiplex_congenita_3,_myogenic_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003701", + "label": "Proximal muscle weakness" + } + }, + { + "type": { + "id": "HP:0001776", + "label": "Bilateral talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0001181", + "label": "Adducted thumb" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0003687", + "label": "Centrally nucleated skeletal muscle fibers" + } + }, + { + "type": { + "id": "HP:0001265", + "label": "Hyporeflexia" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0100297", + "label": "Increased endomysial connective tissue" + } + }, + { + "type": { + "id": "HP:0008689", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_multiplex_congenita_5_patient_1.json @@ -0,0 +1,278 @@ +{ + "id": "arthrogryposis_multiplex_congenita_5", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001765", + "label": "Hammertoe" + } + }, + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0001695", + "label": "Cardiac arrest" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0002378", + "label": "Hand tremor" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001537", + "label": "Umbilical hernia" + } + }, + { + "type": { + "id": "HP:0002827", + "label": "Hip dislocation" + } + }, + { + "type": { + "id": "HP:0012385", + "label": "Camptodactyly" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0000023", + "label": "Inguinal hernia" + } + }, + { + "type": { + "id": "HP:0004447", + "label": "Poikilocytosis" + } + }, + { + "type": { + "id": "HP:0000311", + "label": "Round face" + } + }, + { + "type": { + "id": "HP:0002091", + "label": "Restrictive ventilatory defect" + } + }, + { + "type": { + "id": "HP:0000543", + "label": "Optic disc pallor" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0002804", + "label": "Arthrogryposis multiplex congenita" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0012408", + "label": "Medullary nephrocalcinosis" + } + }, + { + "type": { + "id": "HP:0002304", + "label": "Akinesia" + } + }, + { + "type": { + "id": "HP:0001927", + "label": "Acanthocytosis" + } + }, + { + "type": { + "id": "HP:0001181", + 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}, + { + "type": { + "id": "HP:0034670", + "label": "Abnormal knee physiology" + } + }, + { + "type": { + "id": "HP:0000429", + "label": "Abnormal morphology of the nasal alae" + } + }, + { + "type": { + "id": "HP:0004875", + "label": "Neonatal inspiratory stridor" + } + }, + { + "type": { + "id": "HP:0005272", + "label": "Prominent nasolabial fold" + } + }, + { + "type": { + "id": "HP:0001188", + "label": "Hand clenching" + } + }, + { + "type": { + "id": "HP:0032012", + "label": "Heterotropia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618947", + "label": "Arthrogryposis multiplex congenita 5" + } + } + ], + "metaData": { + "created": "2024-06-11T20:36:49.348677Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + 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of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_multiplex_congenita_Neurogenic_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_multiplex_congenita_Neurogenic_type_patient_1.json new file mode 100644 index 000000000..c7b85c04e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_multiplex_congenita_Neurogenic_type_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "arthrogryposis_multiplex_congenita,_neurogenic_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002804", + "label": "Arthrogryposis multiplex congenita" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:208100", + "label": "Arthrogryposis multiplex congenita, Neurogenic type" + } + } + ], + "metaData": { + "created": "2024-06-12T01:41:46.858482Z", + "createdBy": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_multiplex_congenita_neurogenic_with_agenesis_of_the_corpus_callosum_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "arthrogryposis_multiplex_congenita,_neurogenic,_with_agenesis_of_the_corpus_callosum", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + }, + { + "type": { + "id": "HP:0001838", + "label": "Rocker bottom foot" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0000414", + "label": "Bulbous nose" + } + }, + { + "type": { + "id": "HP:0001284", + "label": "Areflexia" + } + }, + { + "type": { + "id": "HP:0001558", + "label": "Decreased 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_multiplex_congenita_neurogenic_with_myelin_defect_patient_1.json @@ -0,0 +1,86 @@ +{ + "id": "arthrogryposis_multiplex_congenita,_neurogenic,_with_myelin_defect", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0006466", + "label": "Ankle flexion contracture" + } + }, + { + "type": { + "id": "HP:0009121", + "label": "Abnormal axial skeleton morphology" + } + }, + { + "type": { + "id": "HP:0001376", + "label": "Limitation of joint mobility" + } + }, + { + "type": { + "id": "HP:0006380", + "label": "Knee flexion contracture" + } + }, + { + "type": { + "id": "HP:0000549", + "label": "Abnormal conjugate eye movement" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617468", + "label": "Arthrogryposis multiplex congenita, neurogenic, with myelin defect" + } + } + ], + "metaData": { + "created": "2024-06-11T19:22:22.144674Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_multiplex_congenita_with_whistling_face_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_multiplex_congenita_with_whistling_face_patient_1.json new file mode 100644 index 000000000..643a9dcb1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Arthrogryposis_multiplex_congenita_with_whistling_face_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "arthrogryposis_multiplex_congenita_with_whistling_face", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002804", + "label": "Arthrogryposis multiplex congenita" + } + }, + { + "type": { + "id": "HP:0003761", + "label": "Calcinosis" + } + }, + { + "type": { + "id": "HP:0000707", + "label": "Abnormality of the nervous system" + } + }, + { + "type": { + "id": "HP:0002104", + "label": "Apnea" + } + }, + { + "type": { + "id": "HP:0001662", + "label": "Bradycardia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:208155", + "label": "Arthrogryposis multiplex congenita with whistling face" + } + } 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Aspartylglucosaminuria_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "aspartylglucosaminuria", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100790", + "label": "Hernia" + } + }, + { + "type": { + "id": "HP:0002761", + "label": "Generalized joint hypermobility" + } + }, + { + "type": { + "id": "HP:0004487", + "label": "Acrobrachycephaly" + } + }, + { + "type": { + "id": "HP:0005832", + "label": "Dysharmonic delayed bone age" + } + }, + { + "type": { + "id": "HP:0000179", + "label": "Thick lower lip vermilion" + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + }, + { + "type": { + "id": "HP:0001615", + "label": "Hoarse cry" + } + }, + { + "type": { + "id": "HP:0034684", + "label": "Abnormal enzyme concentration or activity" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Asphyxiating_thoracic_dystrophy_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Asphyxiating_thoracic_dystrophy_2_patient_1.json new file mode 100644 index 000000000..8db9daffd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Asphyxiating_thoracic_dystrophy_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "asphyxiating_thoracic_dystrophy_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000774", + "label": "Narrow chest" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611263", + "label": "Asphyxiating thoracic dystrophy 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:32:41.649157Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Asplenia_isolated_congenital_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "asplenia,_isolated_congenital", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001746", + "label": "Asplenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:271400", + "label": "Asplenia, isolated congenital" + } + } + ], + "metaData": { + "created": "2024-06-12T01:59:23.205569Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Asthma_susceptibility_to_patient_1.json new file mode 100644 index 000000000..329d9edd4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Asthma_susceptibility_to_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "asthma,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002099", + "label": "Asthma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600807", + "label": "Asthma, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-12T02:22:50.704486Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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"type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0001310", + "label": "Dysmetria" + } + }, + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0006801", + "label": "Hyperactive deep tendon reflexes" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:159550", + "label": "Ataxia-Pancytopenia syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:15:14.761812Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_combined_cerebellar_and_peripheral_with_hearing_loss_and_diabetes_mellitus_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_combined_cerebellar_and_peripheral_with_hearing_loss_and_diabetes_mellitus_patient_1.json new file mode 100644 index 000000000..5d3410321 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_combined_cerebellar_and_peripheral_with_hearing_loss_and_diabetes_mellitus_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "ataxia,_combined_cerebellar_and_peripheral,_with_hearing_loss_and_diabetes_mellitus", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002059", + "label": "Cerebral atrophy" + } + }, + { + "type": { + "id": "HP:0009830", + "label": "Peripheral neuropathy" + } + }, + { + "type": { + "id": "HP:0003448", + "label": "Decreased sensory nerve conduction velocity" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0040129", + "label": "Abnormal nerve conduction velocity" + } + }, + { + "type": { + "id": "HP:0002011", + "label": "Morphological central nervous system abnormality" + } + }, + { + "type": { + "id": "HP:0002522", + "label": "Areflexia of lower limbs" + } + }, + { + "type": { + "id": "HP:0008625", + "label": "Severe sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0100651", + "label": "Type I diabetes mellitus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616192", + "label": "Ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus" + } + } + ], + "metaData": { + "created": "2024-06-11T21:14:09.342472Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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+ { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0000951", + "label": "Abnormality of the skin" + } + }, + { + "type": { + "id": "HP:0001638", + "label": "Cardiomyopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:208750", + "label": "Ataxia, deafness, and cardiomyopathy" + } + } + ], + "metaData": { + "created": "2024-06-11T21:00:54.380340Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_early_onset_with_oculomotor_apraxia_and_hypoalbuminemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_early_onset_with_oculomotor_apraxia_and_hypoalbuminemia_patient_1.json new file mode 100644 index 000000000..fbcd48e8c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_early_onset_with_oculomotor_apraxia_and_hypoalbuminemia_patient_1.json @@ -0,0 +1,86 @@ +{ + "id": "ataxia,_early-onset,_with_oculomotor_apraxia_and_hypoalbuminemia", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P44Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0002936", + "label": "Distal sensory impairment" + } + }, + { + "type": { + "id": "HP:0010876", + "label": "Abnormal circulating protein concentration" + } + }, + { + "type": { + "id": "HP:0006879", + "label": "Pontocerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0003124", + "label": "Hypercholesterolemia" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:208920", + "label": "Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:56:28.346231Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_intention_tremor_and_hypotonia_syndrome_childhood_onset_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_intention_tremor_and_hypotonia_syndrome_childhood_onset_patient_1.json new file mode 100644 index 000000000..de03fec2d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_intention_tremor_and_hypotonia_syndrome_childhood_onset_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "ataxia,_intention_tremor,_and_hypotonia_syndrome,_childhood-onset", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P18Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0011098", + "label": "Speech apraxia" + } + }, + { + "type": { + "id": "HP:0012736", + "label": "Profound global developmental delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619352", + "label": "Ataxia, intention tremor, and hypotonia syndrome, childhood-onset" + } + } + ], + "metaData": { + "created": "2024-06-11T18:33:19.299352Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_oculomotor_apraxia_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_oculomotor_apraxia_4_patient_1.json new file mode 100644 index 000000000..fa30f6f75 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_oculomotor_apraxia_4_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "ataxia-oculomotor_apraxia_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009830", + "label": "Peripheral neuropathy" + } + }, + { + "type": { + "id": "HP:0003073", + "label": "Hypoalbuminemia" + } + }, + { + "type": { + "id": "HP:0003474", + "label": "Somatic sensory dysfunction" + } + }, + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616267", + "label": "Ataxia-oculomotor apraxia 4" + } + } + ], + "metaData": { + "created": "2024-06-11T18:28:37.416854Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": 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"ataxia,_posterior_column,_with_retinitis_pigmentosa", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P34Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030529", + "label": "Ring scotoma" + } + }, + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + }, + { + "type": { + "id": "HP:0002166", + "label": "Impaired vibration sensation in the lower limbs" + } + }, + { + "type": { + "id": "HP:0003448", + "label": "Decreased sensory nerve conduction velocity" + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0001284", + "label": "Areflexia" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0002136", + "label": "Broad-based gait" + } + }, + { + "type": { + "id": "HP:0000020", + "label": "Urinary incontinence" + } + }, + { + "type": { + "id": "HP:0009473", + "label": "Joint contracture of the hand" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609033", + "label": "Ataxia, posterior column, with retinitis pigmentosa" + } + } + ], + "metaData": { + "created": "2024-06-11T17:53:28.526Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_sensory_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_sensory_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..2c6cd985f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_sensory_autosomal_dominant_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "ataxia,_sensory,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006858", + "label": "Impaired distal proprioception" + } + }, + { + "type": { + "id": "HP:0009830", + "label": "Peripheral neuropathy" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0006962", + "label": "Gait instability, worse in the dark" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608984", + "label": "Ataxia, sensory, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T20:09:39.626536Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_telangiectasia_like_disorder_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_telangiectasia_like_disorder_1_patient_1.json new file mode 100644 index 000000000..88e46c468 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_telangiectasia_like_disorder_1_patient_1.json @@ -0,0 +1,159 @@ +{ + "id": "ataxia-telangiectasia-like_disorder_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002072", + "label": "Chorea" + } + }, + { + "type": { + "id": "HP:0000657", + "label": "Oculomotor apraxia" + } + }, + { + "type": { + "id": "HP:0002061", + "label": "Lower limb spasticity" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0000640", + "label": "Gaze-evoked nystagmus" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0007098", + "label": "Paroxysmal choreoathetosis" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0000570", + "label": "Abnormal saccadic eye movements" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0006962", + "label": "Gait instability, worse in the dark" + } + }, + { + "type": { + "id": "HP:0003393", + "label": "Thenar muscle atrophy" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0011808", + "label": "Decreased patellar reflex" + } + }, + { + "type": { + "id": "HP:0007772", + "label": "Impaired smooth pursuit" + } + }, + { + "type": { + "id": "HP:0011017", + "label": "Abnormal cellular physiology" + } + }, + { + "type": { + "id": "HP:0012391", + "label": "Hyporeflexia of upper limbs" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604391", + "label": "Ataxia-telangiectasia-like disorder 1" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_telangiectasia_like_disorder_2_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "ataxia-telangiectasia-like_disorder_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002180", + "label": "Neurodegeneration" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0034697", + "label": "Cutaneous telangiectasia" + } + }, + { + "type": { + "id": "HP:0000992", + "label": "Cutaneous photosensitivity" + } + }, + { + "type": { + "id": "HP:0034392", + "label": "Joint contracture" + } + }, + { + "type": { + "id": "HP:0012082", + "label": "Cerebellar Purkinje layer atrophy" + } + }, + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + }, + { + "type": { + "id": "HP:0011276", + "label": "Vascular skin abnormality" + } + }, + { + "type": { + "id": "HP:0006962", + "label": "Gait instability, worse in the dark" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0002075", + "label": "Dysdiadochokinesis" + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + }, + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615919", + "label": "Ataxia-telangiectasia-like disorder 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:35:28.049827Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_with_fasciculations_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_with_fasciculations_patient_1.json new file mode 100644 index 000000000..168c75190 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_with_fasciculations_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ataxia_with_fasciculations", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:108700", + "label": "Ataxia with fasciculations" + } + } + ], + "metaData": { + "created": "2024-06-11T20:38:36.143463Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", 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"type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0010831", + "label": "Impaired proprioception" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0010874", + "label": "Tendon xanthomatosis" + } + }, + { + "type": { + "id": "HP:0002403", + "label": "Positive Romberg sign" + } + }, + { + "type": { + "id": "HP:0002073", + "label": "Progressive cerebellar ataxia" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:277460", + "label": "Ataxia with isolated vitamin E deficiency" + } + } + ], + "metaData": { + "created": "2024-06-12T00:29:39.301043Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_with_myoclonic_epilepsy_and_presenile_dementia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_with_myoclonic_epilepsy_and_presenile_dementia_patient_1.json new file mode 100644 index 000000000..c2c959727 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ataxia_with_myoclonic_epilepsy_and_presenile_dementia_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "ataxia_with_myoclonic_epilepsy_and_presenile_dementia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000726", + "label": "Dementia" + } + }, + { + "type": { + "id": "HP:0002123", + "label": "Generalized myoclonic seizure" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:208700", + "label": "Ataxia with myoclonic epilepsy and presenile dementia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:27:21.527707Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atelis_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atelis_syndrome_1_patient_1.json new file mode 100644 index 000000000..23e82b07d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atelis_syndrome_1_patient_1.json @@ -0,0 +1,153 @@ +{ + "id": "atelis_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0007569", + "label": "Generalized seborrheic dermatitis" + } + }, + { + "type": { + "id": "HP:0031297", + "label": "Unroofed coronary sinus" + } + }, + { + "type": { + "id": "HP:0011344", + "label": "Severe global developmental delay" + } + }, + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + }, + { + "type": { + "id": "HP:0007565", + "label": "Multiple cafe-au-lait spots" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:0000331", + "label": "Short chin" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + } + }, + { + "type": { + "id": "HP:0002705", + "label": "High, narrow palate" + } + }, + { + "type": { + "id": "HP:0003808", + "label": "Abnormal muscle tone" + } + }, + { + "type": { + "id": "HP:0001882", + "label": "Leukopenia" + } + }, + { + "type": { + "id": "HP:0004619", + "label": "Lumbar kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0000821", + "label": "Hypothyroidism" + } + }, + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + }, + { + "type": { + "id": "HP:0000958", + "label": "Dry skin" + } + }, + { + "type": { + "id": "HP:0032101", + "label": "Unusual infection" + } + } + ], + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atelis_syndrome_2_patient_1.json @@ -0,0 +1,213 @@ +{ + "id": "atelis_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000739", + "label": "Anxiety" + } + }, + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0001310", + "label": "Dysmetria" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0000448", + "label": "Prominent nose" + } + }, + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0030752", + "label": "Dacryocystocele" + } + }, + { + "type": { + "id": "HP:0000842", + "label": "Hyperinsulinemia" + } + }, + { + "type": { + "id": "HP:0000954", + "label": "Single transverse palmar crease" + } + }, + { + "type": { + "id": "HP:0000286", + "label": 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"version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atelosteogenesis_type_II_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atelosteogenesis_type_II_patient_1.json new file mode 100644 index 000000000..f059ee4eb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atelosteogenesis_type_II_patient_1.json @@ -0,0 +1,159 @@ +{ + "id": "atelosteogenesis,_type_ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002644", + "label": "Abnormal pelvic girdle bone morphology" + } + }, + { + "type": { + "id": "HP:0003185", + "label": "Short greater sciatic notch" + } + }, + { + "type": { + "id": "HP:0002983", + "label": "Micromelia" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0008458", + "label": "Progressive congenital scoliosis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0005773", + "label": "Short forearm" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0030320", + "label": "Increased intervertebral space" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0040069", + "label": "Abnormal lower limb bone morphology" + } + }, + { + "type": { + "id": "HP:0005922", + "label": "Abnormal hand morphology" + } + }, + { + "type": { + "id": "HP:0009603", + "label": "Deviation of the thumb" + } + }, + { + "type": { + "id": "HP:0005254", + "label": "Unilateral chest hypoplasia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0046508", + "label": "Abnormal cervical spine morphology" + } + }, + { + "type": { + "id": "HP:0003180", + "label": "Flat acetabular roof" + } + }, + { + "type": { + "id": "HP:0004558", + "label": "Cervical platyspondyly" + } + }, + { + "type": { + "id": "HP:0001852", + "label": "Sandal gap" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:256050", + "label": "Atelosteogenesis, type II" + } + } + ], + "metaData": { + "created": "2024-06-11T22:52:29.291871Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atelosteogenesis_type_I_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atelosteogenesis_type_I_patient_1.json new file mode 100644 index 000000000..a267317d6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atelosteogenesis_type_I_patient_1.json @@ -0,0 +1,237 @@ +{ + "id": "atelosteogenesis,_type_i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005257", + "label": "Thoracic hypoplasia" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0001538", + "label": "Protuberant abdomen" + } + }, + { + "type": { + "id": "HP:0003417", + "label": "Coronal cleft vertebrae" + } + }, + { + "type": { + "id": "HP:0001591", + "label": "Bell-shaped thorax" + } + }, + { + "type": { + "id": "HP:0003042", + "label": "Elbow dislocation" + } + }, + { + "type": { + "id": "HP:0000890", + "label": "Long clavicles" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0001883", + "label": "Talipes" + } + }, + { + "type": { + "id": "HP:0006406", + "label": "Club-shaped proximal femur" + } + }, + { + "type": { + "id": "HP:0005792", + "label": "Short humerus" + } + }, + { + "type": { + "id": "HP:0006408", + "label": "Distal tapering femur" + } + }, + { + "type": { + "id": "HP:0002986", + "label": "Radial bowing" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0000774", + "label": "Narrow chest" + } + }, + { + "type": { + "id": "HP:0000520", + "label": "Proptosis" + } + }, + { + "type": { + "id": "HP:0001217", + "label": "Clubbing" + } + }, + { + "type": { + "id": "HP:0004592", + "label": "Thoracic platyspondyly" + } + }, + { + "type": { + "id": "HP:0009815", + "label": "Aplasia/hypoplasia of the extremities" + } + }, + { + "type": { + "id": "HP:0003982", + "label": "Aplasia of the ulna" + } + }, + { + "type": { + "id": "HP:0009815", + "label": "Aplasia/hypoplasia of the extremities" + } + }, + { + "type": { + "id": "HP:0025665", + "label": "Extremely preterm birth" + } + }, + { + "type": { + "id": "HP:0005638", + "label": "Decreased anterioposterior diameter of lumbar vertebral bodies" + } + }, + { + "type": { + "id": "HP:0000032", + "label": "Abnormal male external genitalia morphology" + } + }, + { + "type": { + "id": "HP:0002992", + "label": "Abnormal tibia morphology" + } + }, + { + "type": { + "id": "HP:0005922", + "label": "Abnormal hand morphology" + } + }, + { + "type": { + "id": "HP:0007115", + "label": "Orbital encephalocele" + } + }, + { + "type": { + "id": "HP:0004704", + "label": "Short fifth 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"OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Athabaskan_brainstem_dysgenesis_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Athabaskan_brainstem_dysgenesis_syndrome_patient_1.json new file mode 100644 index 000000000..9228fcd10 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Athabaskan_brainstem_dysgenesis_syndrome_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "athabaskan_brainstem_dysgenesis_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000364", + "label": "Hearing abnormality" + } + }, + { + "type": { + "id": "HP:0005290", + "label": "Internal carotid artery hypoplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601536", + "label": "Athabaskan brainstem dysgenesis syndrome" + } + } + ], + "metaData": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atherosclerosis_premature_with_deafness_nephropathy_diabetes_mellitus_photomyoclonus_and_degenerative_neurologic_disease_patient_1.json new file mode 100644 index 000000000..091695ed3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atherosclerosis_premature_with_deafness_nephropathy_diabetes_mellitus_photomyoclonus_and_degenerative_neurologic_disease_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "atherosclerosis,_premature,_with_deafness,_nephropathy,_diabetes_mellitus,photomyoclonus,_and_degenerative_neurologic_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001327", + "label": "Photosensitive myoclonic seizure" + } + }, + { + "type": { + "id": "HP:0000093", + "label": "Proteinuria" + } + }, + { + "type": { + "id": "HP:0007201", + "label": "Cerebral artery atherosclerosis" + } + }, + { + "type": { + "id": "HP:0008587", + "label": "Mild neurosensory hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:209010", + "label": "Atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus,photomyoclonus, and degenerative neurologic disease" + } + } + ], + "metaData": { + "created": "2024-06-11T18:00:26.994357Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atherosclerosis_susceptibility_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atherosclerosis_susceptibility_patient_1.json new file mode 100644 index 000000000..a3873901c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atherosclerosis_susceptibility_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "atherosclerosis_susceptibility", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003233", + "label": "Decreased HDL cholesterol concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:108725", + "label": "Atherosclerosis susceptibility" + } + } + ], + "metaData": { + "created": "2024-06-11T21:27:20.268960Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online 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"metaData": { + "created": "2024-06-11T21:35:47.063990Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atonic_Astatic_syndrome_of_foerster_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atonic_Astatic_syndrome_of_foerster_patient_1.json new file mode 100644 index 000000000..dd8cb1ab3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atonic_Astatic_syndrome_of_foerster_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "atonic-astatic_syndrome_of_foerster", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:209100", + "label": "Atonic-Astatic syndrome of foerster" + } + } + ], + "metaData": { + "created": "2024-06-11T20:21:03.483817Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atresia_of_external_auditory_canal_and_conduction_deafness_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atresia_of_external_auditory_canal_and_conduction_deafness_patient_1.json new file mode 100644 index 000000000..485ab9349 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atresia_of_external_auditory_canal_and_conduction_deafness_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "atresia_of_external_auditory_canal_and_conduction_deafness", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008773", + "label": "Aplasia/Hypoplasia of the middle ear" + } + }, + { + "type": { + "id": "HP:0000402", + "label": "Stenosis of the external auditory canal" + } + }, + { + "type": { + "id": "HP:0000405", + "label": "Conductive hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:108760", + "label": "Atresia of external auditory canal and conduction deafness" + } + } + ], + "metaData": { + "created": "2024-06-11T19:21:44.034616Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_8_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_8_susceptibility_to_patient_1.json new file mode 100644 index 000000000..06b7deadc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_8_susceptibility_to_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "atrial_fibrillation_8,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005110", + "label": "Atrial fibrillation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613055", + "label": "Atrial fibrillation 8, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T18:21:41.608165Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_10_patient_1.json new file mode 100644 index 000000000..6a812b2f9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_10_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "atrial_fibrillation,_familial,_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001662", + "label": "Bradycardia" + } + }, + { + "type": { + "id": "HP:0004749", + "label": "Atrial flutter" + } + }, + { + "type": { + "id": "HP:0005133", + "label": "Right ventricular dilatation" + } + }, + { + "type": { + "id": "HP:0005180", + "label": "Tricuspid regurgitation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614022", + "label": "Atrial fibrillation, familial, 10" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:36.474048Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_11_patient_1.json new file mode 100644 index 000000000..56813b730 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_11_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "atrial_fibrillation,_familial,_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005110", + "label": "Atrial fibrillation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614049", + "label": "Atrial fibrillation, familial, 11" + } + } + ], + "metaData": { + "created": "2024-06-11T18:17:24.775760Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_12_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_12_patient_1.json new file mode 100644 index 000000000..65d9a80ed --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_12_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "atrial_fibrillation,_familial,_12", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004757", + "label": "Paroxysmal atrial fibrillation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614050", + "label": "Atrial fibrillation, familial, 12" + } + } + ], + "metaData": { + "created": "2024-06-11T23:43:34.764809Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_13_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_13_patient_1.json new file mode 100644 index 000000000..6a6b78e7d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_13_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "atrial_fibrillation,_familial,_13", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001650", + "label": "Aortic valve stenosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615377", + "label": "Atrial fibrillation, familial, 13" + } + } + ], + "metaData": { + "created": "2024-06-11T23:19:54.919047Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_14_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_14_patient_1.json new file mode 100644 index 000000000..602e1962d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_14_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "atrial_fibrillation,_familial,_14", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012251", + "label": "ST segment elevation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615378", + "label": "Atrial fibrillation, familial, 14" + } + } + ], + "metaData": { + "created": "2024-06-11T19:13:34.536367Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_15_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_15_patient_1.json new file mode 100644 index 000000000..489fc4353 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_15_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "atrial_fibrillation,_familial,_15", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005110", + "label": "Atrial fibrillation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615770", + "label": "Atrial fibrillation, familial, 15" + } + } + ], + "metaData": { + "created": "2024-06-11T23:01:55.902816Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_18_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_18_patient_1.json new file mode 100644 index 000000000..d111e9caf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_18_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "atrial_fibrillation,_familial,_18", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011705", + "label": "First degree atrioventricular block" + } + }, + { + "type": { + "id": "HP:0001962", + "label": "Palpitations" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617280", + "label": "Atrial fibrillation, familial, 18" + } + } + ], + "metaData": { + "created": "2024-06-11T20:50:22.176449Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_1_patient_1.json new file mode 100644 index 000000000..163fafde2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "atrial_fibrillation,_familial,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005110", + "label": "Atrial fibrillation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608583", + "label": "Atrial fibrillation, familial, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:23:28.177378Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_2_patient_1.json new file mode 100644 index 000000000..d22be75f5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "atrial_fibrillation,_familial,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005110", + "label": "Atrial fibrillation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608988", + "label": "Atrial fibrillation, familial, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:11:28.037432Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_3_patient_1.json new file mode 100644 index 000000000..f051724d7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "atrial_fibrillation,_familial,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001279", + "label": "Syncope" + } + }, + { + "type": { + "id": "HP:0005110", + "label": "Atrial fibrillation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607554", + "label": "Atrial fibrillation, familial, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T18:39:13.351472Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_4_patient_1.json new file mode 100644 index 000000000..1f3b72c88 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_4_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "atrial_fibrillation,_familial,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005110", + "label": "Atrial fibrillation" + } + }, + { + "type": { + "id": "HP:0006699", + "label": "Premature atrial contractions" + } + }, + { + "type": { + "id": "HP:0004757", + "label": "Paroxysmal atrial fibrillation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611493", + "label": "Atrial fibrillation, familial, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T18:40:15.632684Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_5_patient_1.json new file mode 100644 index 000000000..1882a3fa9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "atrial_fibrillation,_familial,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005110", + "label": "Atrial fibrillation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611494", + "label": "Atrial fibrillation, familial, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T17:59:05.819006Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_6_patient_1.json new file mode 100644 index 000000000..9150fc94e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_6_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "atrial_fibrillation,_familial,_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004754", + "label": "Permanent atrial fibrillation" + } + }, + { + "type": { + "id": "HP:0034307", + "label": "Elevated left ventricular end-diastolic diameter" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612201", + "label": "Atrial fibrillation, familial, 6" + } + } + ], + "metaData": { + "created": "2024-06-11T17:42:56.339079Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_7_patient_1.json new file mode 100644 index 000000000..81aa5d5d1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_7_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "atrial_fibrillation,_familial,_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001962", + "label": "Palpitations" + } + }, + { + "type": { + "id": "HP:0004754", + "label": "Permanent atrial fibrillation" + } + }, + { + "type": { + "id": "HP:0004757", + "label": "Paroxysmal atrial fibrillation" + } + }, + { + "type": { + "id": "HP:0011675", + "label": "Arrhythmia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612240", + "label": "Atrial fibrillation, familial, 7" + } + } + ], + "metaData": { + "created": "2024-06-11T21:27:17.862335Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_9_patient_1.json new file mode 100644 index 000000000..8b24beb53 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_fibrillation_familial_9_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "atrial_fibrillation,_familial,_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001962", + "label": "Palpitations" + } + }, + { + "type": { + "id": "HP:0004754", + "label": "Permanent atrial fibrillation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613980", + "label": "Atrial fibrillation, familial, 9" + } + } + ], + "metaData": { + "created": "2024-06-11T21:37:02.400324Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_1_patient_1.json new file mode 100644 index 000000000..076b7234b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_1_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "atrial_septal_defect_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031122", + "label": "Two-raphe bicuspid aortic valve" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:108800", + "label": "Atrial septal defect 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:18:34.020119Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_2_patient_1.json new file mode 100644 index 000000000..431b66166 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_2_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "atrial_septal_defect_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001642", + "label": "Pulmonic stenosis" + } + }, + { + "type": { + "id": "HP:0011622", + "label": "Inlet ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0010445", + "label": "Primum atrial septal defect" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607941", + "label": "Atrial septal defect 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:17:04.541416Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_3_patient_1.json new file mode 100644 index 000000000..fb624c823 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "atrial_septal_defect_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001684", + "label": "Secundum atrial septal defect" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614089", + "label": "Atrial septal defect 3" + } + } + ], + "metaData": { + "created": "2024-06-11T17:55:02.197891Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_4_patient_1.json new file mode 100644 index 000000000..c9dfee097 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "atrial_septal_defect_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001655", + "label": "Patent foramen ovale" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611363", + "label": "Atrial septal defect 4" + } + } + ], + "metaData": { + "created": "2024-06-11T22:23:04.056968Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_5_patient_1.json new file mode 100644 index 000000000..22b03ef7c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_5_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "atrial_septal_defect_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001684", + "label": "Secundum atrial septal defect" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612794", + "label": "Atrial septal defect 5" + } + } + ], + "metaData": { + "created": "2024-06-11T23:48:50.363317Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_6_patient_1.json new file mode 100644 index 000000000..41abac458 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_6_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "atrial_septal_defect_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011567", + "label": "Sinus venosus atrial septal defect" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0001688", + "label": "Sinus bradycardia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613087", + "label": "Atrial septal defect 6" + } + } + ], + "metaData": { + "created": "2024-06-11T18:45:08.682795Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_8_patient_1.json new file mode 100644 index 000000000..b5eae3b28 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_8_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "atrial_septal_defect_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010772", + "label": "Anomalous pulmonary venous return" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614433", + "label": "Atrial septal defect 8" + } + } + ], + "metaData": { + "created": "2024-06-11T21:29:57.052320Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_9_patient_1.json new file mode 100644 index 000000000..8a97540ce --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_9_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "atrial_septal_defect_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002092", + "label": "Pulmonary arterial hypertension" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614475", + "label": "Atrial septal defect 9" + } + } + ], + "metaData": { + "created": "2024-06-11T18:52:36.970172Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_with_atrioventricular_conduction_defects_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_with_atrioventricular_conduction_defects_patient_1.json new file mode 100644 index 000000000..ebc755569 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_septal_defect_with_atrioventricular_conduction_defects_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "atrial_septal_defect_with_atrioventricular_conduction_defects", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001682", + "label": "Subvalvular aortic stenosis" + } + }, + { + "type": { + "id": "HP:0001711", + "label": "Abnormal left ventricle morphology" + } + }, + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + }, + { + "type": { + "id": "HP:0001684", + "label": "Secundum atrial septal defect" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:108900", + "label": "Atrial septal defect with atrioventricular conduction defects" + } + } + ], + "metaData": { + "created": "2024-06-11T21:23:46.130293Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_standstill_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_standstill_1_patient_1.json new file mode 100644 index 000000000..a56efc2c0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_standstill_1_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "atrial_standstill_1", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200127", + "label": "Atrial cardiomyopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:108770", + "label": "Atrial standstill 1" + } + } + ], + "metaData": { + "created": "2024-06-11T17:43:07.824666Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_standstill_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_standstill_2_patient_1.json new file mode 100644 index 000000000..1b9e0743f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_standstill_2_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "atrial_standstill_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003238", + "label": "Hyperpepsinogenemia I" + } + }, + { + "type": { + "id": "HP:0001297", + "label": "Stroke" + } + }, + { + "type": { + "id": "HP:0001662", + "label": "Bradycardia" + } + }, + { + "type": { + "id": "HP:0033122", + "label": "Absent P wave" + } + }, + { + "type": { + "id": "HP:0200127", + "label": "Atrial cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0001638", + "label": "Cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0002793", + "label": "Abnormal pattern of respiration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615745", + "label": "Atrial standstill 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:04:53.124812Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_tachyarrhythmia_with_short_pr_interval_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_tachyarrhythmia_with_short_pr_interval_patient_1.json new file mode 100644 index 000000000..751451c23 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrial_tachyarrhythmia_with_short_pr_interval_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "atrial_tachyarrhythmia_with_short_pr_interval", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004757", + "label": "Paroxysmal atrial fibrillation" + } + }, + { + "type": { + "id": "HP:0031593", + "label": "Abnormal PR interval" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:108950", + "label": "Atrial tachyarrhythmia with short pr interval" + } + } + ], + "metaData": { + "created": "2024-06-11T18:54:59.458902Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrichia_with_papular_lesions_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrichia_with_papular_lesions_patient_1.json new file mode 100644 index 000000000..88e018615 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrichia_with_papular_lesions_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "atrichia_with_papular_lesions", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008070", + "label": "Sparse hair" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:209500", + "label": "Atrichia with papular lesions" + } + } + ], + "metaData": { + "created": "2024-06-11T20:01:26.859949Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrioventricular_dissociation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrioventricular_dissociation_patient_1.json new file mode 100644 index 000000000..a0431815b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrioventricular_dissociation_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "atrioventricular_dissociation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004752", + "label": "Congenital atrioventricular dissociation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:209600", + "label": "Atrioventricular dissociation" + } + } + ], + "metaData": { + "created": "2024-06-11T18:12:58.047562Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrioventricular_septal_defect_5_patient_1.json new file mode 100644 index 000000000..c47471236 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Atrioventricular_septal_defect_5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "atrioventricular_septal_defect_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011623", + "label": "Muscular ventricular septal defect" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614474", + "label": "Atrioventricular septal defect 5" + } + } + ], + "metaData": { + "created": "2024-06-11T18:36:36.984616Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online 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"attention_deficit-hyperactivity_disorder", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000752", + "label": "Hyperactivity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:143465", + "label": "Attention deficit-hyperactivity disorder" + } + } + ], + "metaData": { + "created": "2024-06-11T19:37:15.978506Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Attention_deficit_hyperactivity_disorder_susceptibility_to_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Attention_deficit_hyperactivity_disorder_susceptibility_to_7_patient_1.json new file mode 100644 index 000000000..1483785f9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Attention_deficit_hyperactivity_disorder_susceptibility_to_7_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "attention_deficit-hyperactivity_disorder,_susceptibility_to,_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613003", + "label": "Attention deficit-hyperactivity disorder, susceptibility to, 7" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:48.822009Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": 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"atypical_mycobacteriosis,_familial,_x-linked_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0020087", + "label": "BCGosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300645", + "label": "Atypical mycobacteriosis, familial, X-linked 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:40:41.609948Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Au_Kline_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Au_Kline_syndrome_patient_1.json new file mode 100644 index 000000000..7010b105c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Au_Kline_syndrome_patient_1.json @@ -0,0 +1,333 @@ +{ + "id": "au-kline_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000689", + "label": "Dental malocclusion" + } + }, + { + "type": { + "id": "HP:0000193", + "label": "Bifid uvula" + } + }, + { + "type": { + "id": "HP:0000076", + "label": "Vesicoureteral reflux" + } + }, + { + "type": { + "id": "HP:0000474", + "label": "Thickened nuchal skin fold" + } + }, + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0001363", + "label": "Craniosynostosis" + } + }, + { + "type": { + "id": "HP:0004442", + "label": "Sagittal craniosynostosis" + } + }, + { + "type": { + "id": "HP:0030799", + "label": "Scaphocephaly" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + } + }, + { + "type": { + "id": "HP:0200007", + "label": "Abnormal size of the palpebral fissures" + } + }, + { + "type": { + "id": "HP:0002118", + "label": "Abnormal cerebral ventricle morphology" + } + }, + { + "type": { + "id": "HP:0000341", + "label": "Narrow forehead" + } + }, + { + "type": { + "id": "HP:0001195", + "label": "Single umbilical artery" + } + }, + { + "type": { + "id": "HP:0000422", + "label": "Abnormal nasal bridge morphology" + } + }, + { + "type": { + "id": "HP:0007838", + "label": "Progressive ptosis" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0004681", + "label": "Deep longitudinal plantar crease" + } + }, + { + "type": { + "id": 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}, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000324", + "label": "Facial asymmetry" + } + }, + { + "type": { + "id": "HP:0000162", + "label": "Glossoptosis" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0000160", + "label": "Narrow mouth" + } + }, + { + "type": { + "id": "HP:0009118", + "label": "Aplasia/Hypoplasia of the mandible" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620457", + "label": "Auriculocondylar syndrome 4" + } + } + ], + "metaData": { + "created": "2024-06-11T22:52:17.409314Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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+++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autism_susceptibility_X_linked_1_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "autism_susceptibility,_x-linked_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002332", + "label": "Lack of peer relationships" + } + }, + { + "type": { + "id": "HP:0002353", + "label": "EEG abnormality" + } + }, + { + "type": { + "id": "HP:0000758", + "label": "Abnormal nonverbal communicative behavior" + } + }, + { + "type": { + "id": "HP:0000732", + "label": "Inflexible adherence to routines" + } + }, + { + "type": { + "id": "HP:0000717", + "label": "Autism" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:0100023", + "label": "Recurrent hand flapping" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300425", + "label": "Autism 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autism_susceptibility_X_linked_3_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "autism_susceptibility,_x-linked_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034434", + "label": "Abnormal communication" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0030218", + "label": "Punding" + } + }, + { + "type": { + "id": "HP:0005346", + "label": "Abnormal facial expression" + } + }, + { + "type": { + "id": "HP:0000721", + "label": "Lack of spontaneous play" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300496", + "label": "Autism susceptibility, X-linked 3" + } + } + ], + "metaData": { + "created": "2024-06-11T20:38:30.282953Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autism_susceptibility_to_3_patient_1.json new file mode 100644 index 000000000..9af3b69da --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autism_susceptibility_to_3_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "autism,_susceptibility_to,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000721", + "label": "Lack of spontaneous play" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0000758", + "label": "Abnormal nonverbal communicative behavior" + } + }, + { + "type": { + "id": "HP:0000728", + "label": "Impaired ability to form peer relationships" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608049", + "label": "Autism, susceptibility to, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T18:37:08.928697Z", + "createdBy": "phenotype2phenopacket", + 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}, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000733", + "label": "Motor stereotypy" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607373", + "label": "Autism, susceptibility to, 8" + } + } + ], + "metaData": { + "created": "2024-06-11T23:32:18.140989Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Autism_susceptibility_to_X_linked_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autism_susceptibility_to_X_linked_2_patient_1.json new file mode 100644 index 000000000..0d55294d2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autism_susceptibility_to_X_linked_2_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "autism,_susceptibility_to,_x-linked_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002332", + "label": "Lack of peer relationships" + } + }, + { + "type": { + "id": "HP:0000729", + "label": "Autistic behavior" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autism_susceptibility_to_X_linked_4_patient_1.json new file mode 100644 index 000000000..14b5f325f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autism_susceptibility_to_X_linked_4_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "autism,_susceptibility_to,_x-linked_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0000717", + "label": "Autism" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300830", + "label": "Autism, susceptibility to, X-linked 4" + } + } + ], + "metaData": { + "created": "2024-06-12T00:13:56.745296Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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}, + { + "type": { + "id": "HP:0025500", + "label": "Class II obesity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300872", + "label": "Autism, susceptibility to, X-linked 6" + } + } + ], + "metaData": { + "created": "2024-06-11T20:42:18.445798Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoimmune_disease_multisystem_infantile_onset_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoimmune_disease_multisystem_infantile_onset_1_patient_1.json new file mode 100644 index 000000000..d3ba93cd1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoimmune_disease_multisystem_infantile_onset_1_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "autoimmune_disease,_multisystem,_infantile-onset,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000164", + "label": "Abnormality of the dentition" + } + }, + { + "type": { + "id": "HP:0100651", + "label": "Type I diabetes mellitus" + } + }, + { + "type": { + "id": "HP:0001973", + "label": "Autoimmune thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0001433", + "label": "Hepatosplenomegaly" + } + }, + { + "type": { + "id": "HP:0001890", + "label": "Autoimmune hemolytic anemia" + } + }, + { + "type": { + "id": "HP:0000964", + "label": "Eczematoid dermatitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615952", + "label": "Autoimmune disease, multisystem, infantile-onset, 1" + } + } + ], + "metaData": { + "created": "2024-06-12T02:17:41.924198Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoimmune_disease_multisystem_infantile_onset_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoimmune_disease_multisystem_infantile_onset_2_patient_1.json new file mode 100644 index 000000000..e87d55522 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoimmune_disease_multisystem_infantile_onset_2_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "autoimmune_disease,_multisystem,_infantile-onset,_2", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P3Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033221", + "label": "Increased CD4:CD8 ratio" + } + }, + { + "type": { + "id": "HP:0031266", + "label": "Podocyte foot process effacement" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0000100", + "label": "Nephrotic syndrome" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0012476", + "label": "Decreased specific pneumococcal antibody level" + } + } + ], + "diseases": [ + { + "term": { + "id": 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index 000000000..51a48384d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoimmune_disease_multisystem_infantile_onset_3_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "autoimmune_disease,_multisystem,_infantile-onset,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002850", + "label": "Decreased circulating total IgM" + } + }, + { + "type": { + "id": "HP:0000403", + "label": "Recurrent otitis media" + } + }, + { + "type": { + "id": "HP:0001954", + "label": "Recurrent fever" + } + }, + { + "type": { + "id": "HP:0033199", + "label": "Increased circulating interleukin 10 concentration" + } + }, + { + "type": { + "id": "HP:0030783", + "label": "Increased circulating interleukin 6 concentration" + } + }, + { + "type": { + "id": "HP:0001881", + "label": "Abnormal leukocyte morphology" + } + }, + { + "type": { + "id": "HP:0012475", + "label": "Decreased circulating level of specific antibody" + } + }, + { + "type": { + "id": "HP:0010701", + "label": "Abnormal immunoglobulin level" + } + }, + { + "type": { + "id": "HP:0001045", + "label": "Vitiligo" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620430", + "label": "Autoimmune disease, multisystem, infantile-onset, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T22:29:33.082759Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoimmune_disease_multisystem_with_facial_dysmorphism_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoimmune_disease_multisystem_with_facial_dysmorphism_patient_1.json new file mode 100644 index 000000000..6d9b2c5b6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoimmune_disease_multisystem_with_facial_dysmorphism_patient_1.json @@ -0,0 +1,122 @@ +{ + "id": "autoimmune_disease,_multisystem,_with_facial_dysmorphism", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0000453", + "label": "Choanal atresia" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoimmune_disease_susceptibility_to_1_patient_1.json new file mode 100644 index 000000000..73602bc82 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoimmune_disease_susceptibility_to_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "autoimmune_disease,_susceptibility_to,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000872", + "label": "Hashimoto thyroiditis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607836", + "label": "Autoimmune disease, susceptibility to, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:42:42.395449Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + 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+} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoimmune_lymphoproliferative_syndrome_type_IIB_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoimmune_lymphoproliferative_syndrome_type_IIB_patient_1.json new file mode 100644 index 000000000..feb1b94f5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoimmune_lymphoproliferative_syndrome_type_IIB_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "autoimmune_lymphoproliferative_syndrome,_type_iib", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002028", + "label": "Chronic diarrhea" + } + }, + { + "type": { + "id": "HP:0001744", + "label": "Splenomegaly" + } + }, + { + "type": { + "id": "HP:0002099", + "label": "Asthma" + } + }, + { + "type": { + "id": "HP:0011839", + "label": "Abnormal T cell count" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607271", + "label": "Autoimmune 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+++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoimmune_lymphoproliferative_syndrome_type_III_patient_1.json @@ -0,0 +1,260 @@ +{ + "id": "autoimmune_lymphoproliferative_syndrome,_type_iii", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P13Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002719", + "label": "Recurrent infections" + } + }, + { + "type": { + "id": "HP:0005421", + "label": "Decreased circulating complement C3 concentration" + } + }, + { + "type": { + "id": "HP:0100721", + "label": "Mediastinal lymphadenopathy" + } + }, + { + "type": { + "id": "HP:0002783", + "label": "Recurrent lower respiratory tract infections" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0410293", + "label": "Absent isohemagglutinin level" + } + }, + { + "type": { + "id": "HP:0031041", + "label": "Obstruction of the superior vena 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of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoimmune_polyendocrinopathy_syndrome_type_I_with_or_without_reversible_metaphyseal_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoimmune_polyendocrinopathy_syndrome_type_I_with_or_without_reversible_metaphyseal_dysplasia_patient_1.json new file mode 100644 index 000000000..60140c9aa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoimmune_polyendocrinopathy_syndrome_type_I_with_or_without_reversible_metaphyseal_dysplasia_patient_1.json @@ -0,0 +1,116 @@ +{ + "id": "autoimmune_polyendocrinopathy_syndrome_,_type_i,_with_or_without_reversible_metaphyseal_dysplasia", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P7Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001045", + "label": "Vitiligo" + } + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoimmune_thyroid_disease_susceptibility_to_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "autoimmune_thyroid_disease,_susceptibility_to,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100646", + "label": "Thyroiditis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608175", + "label": "Autoimmune thyroid disease, susceptibility to, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T20:46:09.532607Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoinflammation_panniculitis_and_dermatosis_syndrome_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "autoinflammation,_panniculitis,_and_dermatosis_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011897", + "label": "Neutrophilia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0002027", + "label": "Abdominal pain" + } + }, + { + "type": { + "id": "HP:0001386", + "label": "Joint swelling" + } + }, + { + "type": { + "id": "HP:0009125", + "label": "Lipodystrophy" + } + }, + { + "type": { + "id": "HP:0012490", + "label": "Panniculitis" + } + }, + { + "type": { + "id": "HP:0001954", + "label": "Recurrent fever" + } + }, + { + "type": { + "id": "HP:0002716", + "label": "Lymphadenopathy" + } + }, + { + "type": { + "id": "HP:0010701", + "label": "Abnormal immunoglobulin level" + } + } + ], + "diseases": [ 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoinflammation_with_arthritis_and_dyskeratosis_patient_1.json new file mode 100644 index 000000000..9fd058d7c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoinflammation_with_arthritis_and_dyskeratosis_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "autoinflammation_with_arthritis_and_dyskeratosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001954", + "label": "Recurrent fever" + } + }, + { + "type": { + "id": "HP:0025092", + "label": "Epidermal acanthosis" + } + }, + { + "type": { + "id": "HP:0033001", + "label": "Laryngeal papilloma" + } + }, + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0003237", + "label": "Increased circulating IgG level" + } + }, + { + "type": { + "id": "HP:0025408", + "label": "Abnormal spleen morphology" + } + }, + { + "type": { + "id": "HP:0001072", + "label": "Thickened 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"namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoinflammation_with_episodic_fever_and_lymphadenopathy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoinflammation_with_episodic_fever_and_lymphadenopathy_patient_1.json new file mode 100644 index 000000000..6a2d6ede8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoinflammation_with_episodic_fever_and_lymphadenopathy_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "autoinflammation_with_episodic_fever_and_lymphadenopathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004856", + "label": "Normochromic microcytic anemia" + } + }, + { + "type": { + "id": "HP:0031446", + "label": "Erosion of oral mucosa" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618852", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoinflammation_with_pulmonary_and_cutaneous_vasculitis_patient_1.json new file mode 100644 index 000000000..4fd57e2c7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoinflammation_with_pulmonary_and_cutaneous_vasculitis_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "autoinflammation_with_pulmonary_and_cutaneous_vasculitis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200029", + "label": "Vasculitis in the skin" + } + }, + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0031363", + "label": "Palpable purpura" + } + }, + { + "type": { + "id": "HP:0001438", + "label": "Abnormal abdomen morphology" + } + }, + { + "type": { + "id": "HP:0006527", + "label": "Lymphocytic interstitial pneumonia" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620296", + "label": "Autoinflammation with pulmonary and cutaneous vasculitis" + } + } + ], + "metaData": { + "created": "2024-06-12T02:23:43.383236Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoinflammatory_disease_familial_Behcet_like_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoinflammatory_disease_familial_Behcet_like_3_patient_1.json new file mode 100644 index 000000000..5e80b22c3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoinflammatory_disease_familial_Behcet_like_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "autoinflammatory_disease,_familial,_behcet-like-3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000155", + "label": "Oral ulcer" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618287", + "label": "Autoinflammatory disease, familial, Behcet-like-3" + } + } + ], + "metaData": { + "created": "2024-06-12T00:30:31.267004Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoinflammatory_disease_systemic_with_vasculitis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoinflammatory_disease_systemic_with_vasculitis_patient_1.json new file mode 100644 index 000000000..10cf4d7fd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Autoinflammatory_disease_systemic_with_vasculitis_patient_1.json @@ -0,0 +1,243 @@ +{ + "id": "autoinflammatory_disease,_systemic,_with_vasculitis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002583", + "label": "Colitis" + } + }, + { + "type": { + "id": "HP:0031964", + "label": "Elevated circulating alanine aminotransferase concentration" + } + }, + { + "type": { + "id": "HP:0001025", + "label": "Urticaria" + } + }, + { + "type": { + "id": "HP:0001047", + "label": "Atopic dermatitis" + } + }, + { + "type": { + "id": "HP:0000031", + "label": "Epididymitis" + } + }, + { + "type": { 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+ "diseases": [ + { + "term": { + "id": "OMIM:109130", + "label": "Axial osteomalacia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:35:30.354769Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ayme_Gripp_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ayme_Gripp_syndrome_patient_1.json new file mode 100644 index 000000000..162c9b129 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ayme_Gripp_syndrome_patient_1.json @@ -0,0 +1,212 @@ +{ + "id": "ayme-gripp_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0000319", + "label": "Smooth philtrum" + } + }, + { + "type": { + "id": "HP:0002974", + "label": "Radioulnar synostosis" + } + }, + { + "type": { + "id": "HP:0004487", + "label": "Acrobrachycephaly" + } + }, + { + "type": { + "id": "HP:0012373", + "label": "Abnormal eye physiology" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual 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"term": { + "id": "OMIM:301060", + "label": "Azoospermia, obstructive, with nephrolithiasis" + } + } + ], + "metaData": { + "created": "2024-06-11T18:06:15.802324Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/BETA_THALASSEMIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/BETA_THALASSEMIA_patient_1.json new file mode 100644 index 000000000..22347bb55 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/BETA_THALASSEMIA_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "beta-thalassemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004840", + "label": "Hypochromic microcytic anemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613985", + "label": "BETA-THALASSEMIA" + } + } + ], + "metaData": { + "created": "2024-06-11T22:00:24.825224Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/B_CELL_CLL_LYMPHOMA_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/B_CELL_CLL_LYMPHOMA_2_patient_1.json new file mode 100644 index 000000000..45ed64d82 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/B_CELL_CLL_LYMPHOMA_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "b-cell_cll/lymphoma_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012539", + "label": "Non-Hodgkin lymphoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:151430", + "label": "B-CELL CLL/LYMPHOMA 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:26:11.032485Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/B_cell_expansion_with_NFKB_and_T_cell_anergy_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "b-cell_expansion_with_nfkb_and_t-cell_anergy", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034839", + "label": "Lymphoid hyperplasia" + } + }, + { + "type": { + "id": "HP:0032140", + "label": "Decreased specific antibody response to vaccination" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616452", + "label": "B-cell expansion with NFKB and T-cell anergy" + } + } + ], + "metaData": { + "created": "2024-06-12T02:16:27.951833Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + 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"baralle-macken_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001182", + "label": "Tapered finger" + } + }, + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0000957", + "label": "Cafe-au-lait spot" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0001319", + "label": "Neonatal hypotonia" + } + }, + { + "type": { + "id": "HP:0000020", + "label": "Urinary incontinence" + } + }, + { + "type": { + "id": "HP:0007359", + "label": "Focal-onset seizure" + } + }, + { + "type": { + "id": "HP:0031936", + "label": "Delayed ability to walk" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": 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"version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_16_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_16_patient_1.json new file mode 100644 index 000000000..10a7d2eda --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_16_patient_1.json @@ -0,0 +1,86 @@ +{ + "id": "bardet-biedl_syndrome_16", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P13Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002205", + "label": "Recurrent respiratory infections" + }, + "modifiers": [ + { + "id": "HP:0011010", + "label": "Chronic" + } + ] + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_17_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_17_patient_1.json new file mode 100644 index 000000000..57b9e215b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_17_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "bardet-biedl_syndrome_17", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001830", + "label": "Postaxial foot polydactyly" + } + }, + { + "type": { + "id": "HP:0000054", + "label": "Micropenis" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0008915", + "label": "Childhood-onset truncal obesity" + } + }, + { + "type": { + "id": "HP:0007017", + "label": "Progressive forgetfulness" + } + }, + { + "type": { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_3_patient_1.json new file mode 100644 index 000000000..0c991ddb9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "bardet-biedl_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100259", + "label": "Postaxial polydactyly" + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600151", + "label": "Bardet-Biedl syndrome 3" + } + } + ], + "metaData": { + "created": "2024-06-11T23:54:48.725035Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_4_patient_1.json new file mode 100644 index 000000000..cc4b85bca --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_4_patient_1.json @@ -0,0 +1,98 @@ +{ + "id": "bardet-biedl_syndrome_4", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P8Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0003241", + "label": "External genital hypoplasia" + } + }, + { + "type": { + "id": "HP:0000164", + "label": "Abnormality of the dentition" + } + }, + { + "type": { + "id": "HP:0000077", + "label": "Abnormality of the kidney" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0011297", + "label": "Abnormal digit morphology" + } + }, + { + "type": { + "id": "HP:0025501", + "label": "Class III obesity" + } + }, + { + "type": { + "id": "HP:0004329", + "label": "Abnormal posterior eye segment morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615982", + "label": "Bardet-Biedl syndrome 4" + } + } + ], + "metaData": { + "created": "2024-06-11T23:10:10.254271Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_5_patient_1.json new file mode 100644 index 000000000..5ce160f0e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_5_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "bardet-biedl_syndrome_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000050", + "label": "Hypoplastic male external genitalia" + } + }, + { + "type": { + "id": "HP:0012243", + "label": "Abnormal reproductive system morphology" + } + }, + { + "type": { + "id": "HP:0032037", + "label": "Mildly reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0000134", + "label": "Female hypogonadism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615983", + "label": "Bardet-Biedl syndrome 5" + } + } + ], + "metaData": { + "created": "2024-06-11T23:26:11.011526Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_6_patient_1.json new file mode 100644 index 000000000..b52f9765e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_6_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "bardet-biedl_syndrome_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001159", + "label": "Syndactyly" + } + }, + { + "type": { + "id": "HP:0001513", + "label": "Obesity" + } + }, + { + "type": { + "id": "HP:0003241", + "label": "External genital hypoplasia" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000580", + "label": "Pigmentary retinopathy" + } + }, + { + "type": { + "id": "HP:0100627", + "label": "Displacement of the urethral meatus" + } + }, + { + "type": { + "id": "HP:0001830", + "label": "Postaxial foot polydactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605231", + "label": "Bardet-Biedl syndrome 6" + } + } + ], + "metaData": { + "created": "2024-06-11T17:46:26.164149Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_7_patient_1.json new file mode 100644 index 000000000..b325fdfce --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_7_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "bardet-biedl_syndrome_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0004691", + "label": "2-3 toe syndactyly" + } + }, + { + "type": { + "id": "HP:0010691", + "label": "Mirror image foot polydactyly" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615984", + "label": "Bardet-Biedl syndrome 7" + } + } + ], + "metaData": { + "created": "2024-06-12T00:30:13.532872Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_8_patient_1.json new file mode 100644 index 000000000..d98aa88ed --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_8_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "bardet-biedl_syndrome_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000248", + "label": "Brachycephaly" + } + }, + { + "type": { + "id": "HP:0001513", + "label": "Obesity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615985", + "label": "Bardet-Biedl syndrome 8" + } + } + ], + "metaData": { + "created": "2024-06-12T02:19:01.231230Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_9_patient_1.json new file mode 100644 index 000000000..a526e0284 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bardet_Biedl_syndrome_9_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "bardet-biedl_syndrome_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002591", + "label": "Polyphagia" + } + }, + { + "type": { + "id": "HP:0007737", + "label": "Bone spicule pigmentation of the retina" + } + }, + { + "type": { + "id": "HP:0001956", + "label": "Truncal obesity" + } + }, + { + "type": { + "id": "HP:0003074", + "label": "Hyperglycemia" + } + }, + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615986", + "label": "Bardet-Biedl syndrome 9" + } + } + ], + "metaData": { + "created": "2024-06-11T23:51:23.692256Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bare_lymphocyte_syndrome_type_II_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bare_lymphocyte_syndrome_type_II_patient_1.json new file mode 100644 index 000000000..325cc86ca --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bare_lymphocyte_syndrome_type_II_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "bare_lymphocyte_syndrome,_type_ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002024", + "label": "Malabsorption" + } + }, + { + "type": { + "id": "HP:0012252", + "label": "Abnormal respiratory system morphology" + } + }, + { + "type": { + "id": "HP:0007408", + "label": "Tegumentary leishmaniasis susceptibility" + } + }, + { + "type": { + "id": "HP:0001080", + "label": "Biliary tract abnormality" + } + }, + { + "type": { + "id": "HP:0001287", + "label": "Meningitis" + } + }, + { + "type": { + "id": "HP:0002719", + "label": "Recurrent infections" + } + }, + { + "type": { + "id": "HP:0002963", + "label": "Abnormal delayed hypersensitivity skin test" + } + }, + { + "type": { + "id": "HP:0030151", + "label": "Cholangitis" + } + }, + { + "type": { + "id": "HP:0012647", + "label": "Abnormal inflammatory response" + } + }, + { + "type": { + "id": "HP:0010701", + "label": "Abnormal immunoglobulin level" + } + }, + { + "type": { + "id": "HP:0004385", + "label": "Protracted diarrhea" + } + }, + { + "type": { + "id": "HP:0002242", + "label": "Abnormal intestine morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:209920", + "label": "Bare lymphocyte syndrome, type II" + } + } + ], + "metaData": { + "created": "2024-06-11T20:34:20.404054Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bare_lymphocyte_syndrome_type_I_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bare_lymphocyte_syndrome_type_I_patient_1.json new file mode 100644 index 000000000..b2c986a92 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bare_lymphocyte_syndrome_type_I_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "bare_lymphocyte_syndrome,_type_i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000389", + "label": "Chronic otitis media" + } + }, + { + "type": { + "id": "HP:0100582", + "label": "Nasal polyposis" + } + }, + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604571", + "label": "Bare lymphocyte syndrome, type I" + } + } + ], + "metaData": { + "created": "2024-06-11T20:50:21.718757Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Barrett_esophagus_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Barrett_esophagus_patient_1.json new file mode 100644 index 000000000..54311b682 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Barrett_esophagus_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "barrett_esophagus", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100580", + "label": "Barrett esophagus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614266", + "label": "Barrett esophagus" + } + } + ], + "metaData": { + "created": "2024-06-11T18:39:35.144166Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bart_Pumphrey_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bart_Pumphrey_syndrome_patient_1.json new file mode 100644 index 000000000..1c28c1fdb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bart_Pumphrey_syndrome_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "bart-pumphrey_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001820", + "label": "Leukonychia" + } + }, + { + "type": { + "id": "HP:0000982", + "label": "Palmoplantar keratoderma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:149200", + "label": "Bart-Pumphrey syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:51:09.346561Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Barth_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Barth_syndrome_patient_1.json new file mode 100644 index 000000000..dd6d0955d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Barth_syndrome_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "barth_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001913", + "label": "Granulocytopenia" + } + }, + { + "type": { + "id": "HP:0000400", + "label": "Macrotia" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:6000517", + "label": "Elevated monolysocardiolipin/cardiolipin ratio" + } + }, + { + "type": { + "id": "HP:0004913", + "label": "Intermittent lactic acidemia" + } + }, + { + "type": { + "id": "HP:0002515", + "label": "Waddling gait" + } + }, + { + "type": { + "id": "HP:0004840", + "label": "Hypochromic microcytic anemia" + } + }, + { + "type": { + "id": "HP:0011675", + "label": "Arrhythmia" + } + }, + { + "type": { + "id": "HP:0031980", + "label": "Abnormal urine carboxylic acid level" + } + }, + { + "type": { + "id": "HP:0001644", + "label": "Dilated cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0001881", + "label": "Abnormal leukocyte morphology" + } + }, + { + "type": { + "id": "HP:0000303", + "label": "Mandibular prognathia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:302060", + "label": "Barth syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:56:32.245841Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bartter_syndrome_type_3_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "bartter_syndrome,_type_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001960", + "label": "Hypokalemic metabolic alkalosis" + } + }, + { + "type": { + "id": "HP:0003127", + "label": "Hypocalciuria" + } + }, + { + "type": { + "id": "HP:0002900", + "label": "Hypokalemia" + } + }, + { + "type": { + "id": "HP:0000610", + "label": "Abnormal choroid morphology" + } + }, + { + "type": { + "id": "HP:0003324", + "label": "Generalized muscle weakness" + } + }, + { + "type": { + "id": "HP:0008046", + "label": "Abnormal retinal vascular morphology" + } + }, + { + "type": { + "id": "HP:0005579", + "label": "Impaired renal tubular reabsorption of chloride" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607364", + "label": "Bartter syndrome, type 3" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bartter_syndrome_type_4A_neonatal_with_sensorineural_deafness_patient_1.json @@ -0,0 +1,147 @@ +{ + "id": "bartter_syndrome,_type_4a,_neonatal,_with_sensorineural_deafness", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000103", + "label": "Polyuria" + } + }, + { + "type": { + "id": "HP:0005576", + "label": "Tubulointerstitial fibrosis" + } + }, + { + "type": { + "id": "HP:0002900", + "label": "Hypokalemia" + } + }, + { + "type": { + "id": "HP:0001265", + "label": "Hyporeflexia" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0002914", + "label": "Hyperchloriduria" + } + }, + { + "type": { + "id": "HP:0012758", + "label": 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new file mode 100644 index 000000000..d3cc7f232 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bartter_syndrome_type_4B_neonatal_with_sensorineural_deafness_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "bartter_syndrome,_type_4b,_neonatal,_with_sensorineural_deafness", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012605", + "label": "Hypernatriuria" + } + }, + { + "type": { + "id": "HP:0001622", + "label": "Premature birth" + } + }, + { + "type": { + "id": "HP:0000969", + "label": "Edema" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0000859", + "label": "Hyperaldosteronism" + } + }, + { + "type": { + "id": "HP:0004909", + "label": "Hypokalemic hypochloremic metabolic alkalosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613090", + "label": "Bartter syndrome, type 4B, neonatal, with sensorineural deafness" + } + } + ], + "metaData": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bartter_syndrome_type_5_antenatal_transient_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "bartter_syndrome,_type_5,_antenatal,_transient", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002900", + "label": "Hypokalemia" + } + }, + { + "type": { + "id": "HP:0003113", + "label": "Hypochloremia" + } + }, + { + "type": { + "id": "HP:0012590", + "label": "Abnormal urine output" + } + }, + { + "type": { + "id": "HP:0002150", + "label": "Hypercalciuria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300971", + "label": "Bartter syndrome, type 5, antenatal, transient" + } + } + ], + "metaData": { + "created": "2024-06-11T19:03:31.601886Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Basal_cell_nevus_syndrome_2_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "basal_cell_nevus_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010615", + "label": "Angiofibromas" + } + }, + { + "type": { + "id": "HP:0002321", + "label": "Vertigo" + } + }, + { + "type": { + "id": "HP:0003764", + "label": "Nevus" + } + }, + { + "type": { + "id": "HP:0040098", + "label": "Basalioma of the outer ear" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0025507", + "label": "Yellow papule" + } + }, + { + "type": { + "id": "HP:0040194", + "label": "Increased head circumference" + } + }, + { + "type": { + "id": "HP:0010612", + "label": "Plantar pits" + } + }, + { + "type": { + "id": "HP:0010610", + "label": "Palmar pits" + } + }, + { + "type": { + "id": "HP:0007129", + "label": "Cerebellar medulloblastoma" + 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], + "diseases": [ + { + "term": { + "id": "OMIM:604919", + "label": "Becker nevus syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:15:19.341737Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Beckwith_Wiedemann_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Beckwith_Wiedemann_syndrome_patient_1.json new file mode 100644 index 000000000..06f4842df --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Beckwith_Wiedemann_syndrome_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "beckwith-wiedemann_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008186", + "label": "Adrenocortical cytomegaly" + } + }, + { + "type": { + "id": "HP:0008523", + "label": "Posterior helix pit" + } + }, + { + "type": { + "id": "HP:0000280", + "label": "Coarse facial features" + } + }, + { + "type": { + "id": "HP:0000239", + "label": "Large fontanelles" + } + }, + { + "type": { + "id": "HP:0000105", + "label": "Enlarged kidney" + } + }, + { + "type": { + "id": "HP:0005616", + "label": "Accelerated skeletal maturation" + } + }, + { + "type": { + "id": "HP:0032165", + "label": "Placental mesenchymal dysplasia" + } + }, + { + "type": { + "id": "HP:0001305", + "label": "Dandy-Walker malformation" + } + }, + { + "type": { + "id": "HP:0000520", + "label": "Proptosis" + } + } + ], + "diseases": 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000000000..d15866eef --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Beemer_lethal_malformation_syndrome_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "beemer_lethal_malformation_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011875", + "label": "Abnormal platelet morphology" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:209970", + "label": "Beemer lethal malformation syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:59:49.683741Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bent_bone_dysplasia_syndrome_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "bent_bone_dysplasia_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + }, + { + "type": { + "id": "HP:0008665", + "label": "Clitoral hypertrophy" + } + }, + { + "type": { + "id": "HP:0410219", + "label": "Hypoplasia of mandible relative to maxilla" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0011314", + "label": "Abnormal long bone morphology" + } + }, + { + "type": { + "id": "HP:0001363", + "label": "Craniosynostosis" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0007800", + "label": "Increased axial length of the globe" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614592", + "label": "Bent bone dysplasia syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:17:55.928634Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bernard_Soulier_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bernard_Soulier_syndrome_patient_1.json new file mode 100644 index 000000000..e0ad528cf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bernard_Soulier_syndrome_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "bernard-soulier_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011875", + "label": "Abnormal platelet morphology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000225", + "label": "Gingival bleeding" + } + }, + { + "type": { + "id": "HP:0000132", + "label": "Menorrhagia" + } + }, + { + "type": { + "id": "HP:0011875", + "label": "Abnormal platelet morphology" + } + }, + { + "type": { + "id": "HP:0011871", + "label": "Impaired ristocetin-induced platelet aggregation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:231200", + "label": "Bernard-Soulier 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bernard_Soulier_syndrome_type_A2_autosomal_dominant_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "bernard-soulier_syndrome,_type_a2,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011877", + "label": "Increased mean platelet volume" + } + }, + { + "type": { + "id": "HP:0000421", + "label": "Epistaxis" + } + }, + { + "type": { + "id": "HP:0001744", + "label": "Splenomegaly" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0006298", + "label": "Prolonged bleeding after dental extraction" + } + }, + { + "type": { + "id": "HP:0011871", + "label": "Impaired ristocetin-induced platelet aggregation" + } + }, + { + "type": { + "id": "HP:0000132", + "label": "Menorrhagia" + } + }, + { + "type": { + "id": "HP:0000225", + "label": "Gingival 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Berry_aneurysm_cirrhosis_pulmonary_emphysema_and_cerebral_calcification_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Berry_aneurysm_cirrhosis_pulmonary_emphysema_and_cerebral_calcification_patient_1.json new file mode 100644 index 000000000..3671ed6ff --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Berry_aneurysm_cirrhosis_pulmonary_emphysema_and_cerebral_calcification_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "berry_aneurysm,_cirrhosis,_pulmonary_emphysema,_and_cerebral_calcification", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001409", + "label": "Portal hypertension" + } + }, + { + "type": { + "id": "HP:0007238", + "label": "Nonarteriosclerotic cerebral calcification" + } + }, + { + "type": { + "id": "HP:0011005", + "label": "Mixed cirrhosis" + } + }, + { + "type": { + "id": "HP:0001410", + "label": "Decreased liver function" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0001507", + "label": "Growth abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:210050", + "label": "Berry aneurysm, cirrhosis, pulmonary emphysema, and cerebral calcification" + } + } + ], + "metaData": { + "created": "2024-06-11T19:58:19.129485Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bestrophinopathy_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bestrophinopathy_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..b4349ed6b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bestrophinopathy_autosomal_recessive_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "bestrophinopathy,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000540", + "label": "Hypermetropia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611809", + "label": "Bestrophinopathy, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T22:29:54.959449Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Beta_aminoisobutyric_acid_urinary_excretion_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Beta_aminoisobutyric_acid_urinary_excretion_of_patient_1.json new file mode 100644 index 000000000..555e692ce --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Beta_aminoisobutyric_acid_urinary_excretion_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "beta-aminoisobutyric_acid,_urinary_excretion_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032480", + "label": "Beta-aminoisobutyric aciduria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:210100", + "label": "Beta-aminoisobutyric acid, urinary excretion of" + } + } + ], + "metaData": { + "created": "2024-06-11T21:52:44.628066Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Beta_ureidopropionase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Beta_ureidopropionase_deficiency_patient_1.json new file mode 100644 index 000000000..459f9957c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Beta_ureidopropionase_deficiency_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "beta-ureidopropionase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:6000082", + "label": "Reduced hepatic beta-ureidopropionase activity" + } + }, + { + "type": { + "id": "HP:6000623", + "label": "Elevated urinary N-carbamyl-beta-aminoisobutyric acid level" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:6000209", + "label": "Elevated CSF N-carbamyl-beta-aminoisobutyric acid concentration" + } + }, + { + "type": { + "id": "HP:6000534", + "label": "Elevated urinary ureidopropionic acid level" + } + }, + { + "type": { + "id": "HP:0002023", + "label": "Anal atresia" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0005967", + "label": "Mixed respiratory and metabolic acidosis" + } + }, + { + "type": { + "id": "HP:0002836", + "label": "Bladder exstrophy" + } + }, + { + "type": { + "id": "HP:0002921", + "label": "Abnormal cerebrospinal fluid morphology" + } + }, + { + "type": { + "id": "HP:0040156", + "label": "Elevated urinary carboxylic acid" + } + }, + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613161", + "label": "Beta-ureidopropionase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T21:03:33.554920Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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{ + "id": "HP:0005988", + "label": "Congenital muscular torticollis" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0003325", + "label": "Limb-girdle muscle weakness" + } + }, + { + "type": { + "id": "HP:0001558", + "label": "Decreased fetal movement" + } + }, + { + "type": { + "id": "HP:0003701", + "label": "Proximal muscle weakness" + } + }, + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" + } + }, + { + "type": { + "id": "HP:0002460", + "label": "Distal muscle weakness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:158810", + "label": "Bethlem myopathy 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:28:37.457407Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bethlem_myopathy_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bethlem_myopathy_2_patient_1.json new file mode 100644 index 000000000..4ed21c9a3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bethlem_myopathy_2_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "bethlem_myopathy_2", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003557", + "label": "Increased variability in muscle fiber diameter" + } + }, + { + "type": { + "id": 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"namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Biemond_syndrome_II_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Biemond_syndrome_II_patient_1.json new file mode 100644 index 000000000..a9b9b64b4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Biemond_syndrome_II_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "biemond_syndrome_ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000818", + "label": "Abnormality of the endocrine system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:210350", + "label": "Biemond syndrome II" + } + } + ], + "metaData": { + "created": "2024-06-11T18:26:35.950423Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bietti_crystalline_corneoretinal_dystrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bietti_crystalline_corneoretinal_dystrophy_patient_1.json new file mode 100644 index 000000000..d65b2e08e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bietti_crystalline_corneoretinal_dystrophy_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "bietti_crystalline_corneoretinal_dystrophy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000531", + "label": "Corneal crystals" + } + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0000533", + "label": "Chorioretinal atrophy" + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0030528", + "label": "Paracentral scotoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:210370", + "label": "Bietti crystalline corneoretinal dystrophy" + } + } + ], + "metaData": { + "created": "2024-06-11T23:11:22.166281Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online 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nose" + } + }, + { + "type": { + "id": "HP:0001545", + "label": "Anteriorly placed anus" + } + }, + { + "type": { + "id": "HP:0000200", + "label": "Short lingual frenulum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608980", + "label": "Bifid nose with or without anorectal and renal anomalies" + } + } + ], + "metaData": { + "created": "2024-06-11T20:18:42.795006Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_conjugation_defect_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_conjugation_defect_1_patient_1.json new file mode 100644 index 000000000..64cc27536 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_conjugation_defect_1_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "bile_acid_conjugation_defect_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0410042", + "label": "Abnormal liver morphology" + } + }, + { + "type": { + "id": "HP:0001396", + "label": "Cholestasis" + } + }, + { + "type": { + "id": "HP:0002904", + "label": "Hyperbilirubinemia" + } + }, + { + "type": { + "id": "HP:0034684", + "label": "Abnormal enzyme concentration or activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619232", + "label": "Bile acid conjugation defect 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:42:25.225287Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_malabsorption_primary_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_malabsorption_primary_2_patient_1.json new file mode 100644 index 000000000..e15f433c9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_malabsorption_primary_2_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "bile_acid_malabsorption,_primary,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004905", + "label": "Reduced circulating vitamin A concentration" + } + }, + { + "type": { + "id": "HP:0031964", + "label": "Elevated circulating alanine aminotransferase concentration" + } + }, + { + "type": { + "id": "HP:0100512", + "label": "Decreased circulating vitamin D concentration" + } + }, + { + "type": { + "id": "HP:0025321", + "label": "Copper accumulation in liver" + } + }, + { + "type": { + "id": "HP:0034684", + "label": "Abnormal enzyme concentration or activity" + } + }, + { + "type": { + "id": "HP:0002570", + "label": "Steatorrhea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619481", + "label": "Bile acid malabsorption, primary, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:36:51.365719Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_malabsorption_primary_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_malabsorption_primary_patient_1.json new file mode 100644 index 000000000..4c2669bb5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_malabsorption_primary_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "bile_acid_malabsorption,_primary", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002028", + "label": "Chronic diarrhea" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613291", + "label": "Bile acid malabsorption, primary" + } + } + ], + "metaData": { + "created": "2024-06-11T18:48:15.923446Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_synthesis_defect_congenital_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_synthesis_defect_congenital_1_patient_1.json new file mode 100644 index 000000000..63452d1c6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_synthesis_defect_congenital_1_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "bile_acid_synthesis_defect,_congenital,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001406", + "label": "Intrahepatic cholestasis" + } + }, + { + "type": { + "id": "HP:0002748", + "label": "Rickets" + } + }, + { + "type": { + "id": "HP:0000952", + "label": "Jaundice" + } + }, + { + "type": { + "id": "HP:0200084", + "label": "Giant cell hepatitis" + } + }, + { + "type": { + "id": "HP:0003256", + "label": "Abnormality of the coagulation cascade" + } + }, + { + "type": { + "id": "HP:0003146", + "label": "Hypocholesterolemia" + } + }, + { + "type": { + "id": "HP:0001394", + "label": "Cirrhosis" + } + }, + { + "type": { + "id": "HP:0001531", + "label": "Failure to thrive in infancy" + } + }, + { + "type": { + "id": "HP:0004787", + "label": "Fulminant hepatitis" + } + }, + { + "type": { + "id": "HP:0025033", + "label": "Abnormal digestive system morphology" + } + }, + { + "type": { + "id": "HP:0006564", + "label": "Fluctuating hepatomegaly" + } + }, + { + "type": { + "id": "HP:0002630", + "label": "Fat malabsorption" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607765", + "label": "Bile acid synthesis defect, congenital, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:51:59.839426Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_synthesis_defect_congenital_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_synthesis_defect_congenital_2_patient_1.json new file mode 100644 index 000000000..a77b087fb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_synthesis_defect_congenital_2_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "bile_acid_synthesis_defect,_congenital,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002570", + "label": "Steatorrhea" + } + }, + { + "type": { + "id": "HP:0002910", + "label": "Elevated circulating hepatic transaminase concentration" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0001406", + "label": "Intrahepatic cholestasis" + } + }, + { + "type": { + "id": "HP:0002014", + "label": "Diarrhea" + } + }, + { + "type": { + "id": "HP:0001438", + "label": "Abnormal abdomen morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:235555", + "label": "Bile acid synthesis defect, congenital, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:46.578142Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_synthesis_defect_congenital_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_synthesis_defect_congenital_3_patient_1.json new file mode 100644 index 000000000..13d9b2f74 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_synthesis_defect_congenital_3_patient_1.json @@ -0,0 +1,134 @@ +{ + "id": "bile_acid_synthesis_defect,_congenital,_3", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031964", + "label": "Elevated circulating alanine aminotransferase concentration" + } + }, + { + "type": { + "id": "HP:0410042", + "label": "Abnormal liver morphology" + } + }, + { + "type": { + "id": "HP:0001433", + "label": "Hepatosplenomegaly" + } + }, + { + "type": { + "id": "HP:0001080", + "label": "Biliary tract abnormality" + } + }, + { + "type": { + "id": "HP:0034294", + "label": "Ductal bile plugs" + } + }, + { + "type": { + "id": "HP:0011985", + "label": "Acholic stools" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0032199", + "label": "Abnormal prothrombin time" + } + }, + { + "type": { + "id": "HP:0008318", + "label": "Elevated leukocyte alkaline phosphatase" + } + }, + { + "type": { + "id": "HP:0008866", + "label": "Failure to thrive secondary to recurrent infections" + } + }, + { + "type": { + "id": "HP:0001046", + "label": "Intermittent jaundice" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0012719", + "label": "Functional abnormality of the gastrointestinal tract" + } + }, + { + "type": { + "id": "HP:0001438", + "label": "Abnormal abdomen morphology" + } + }, + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613812", + "label": "Bile acid synthesis defect, congenital, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T20:37:01.269410Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_synthesis_defect_congenital_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_synthesis_defect_congenital_4_patient_1.json new file mode 100644 index 000000000..bcc8a508b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_synthesis_defect_congenital_4_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "bile_acid_synthesis_defect,_congenital,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200084", + "label": "Giant cell hepatitis" + } + }, + { + "type": { + "id": "HP:0003645", + "label": "Prolonged partial thromboplastin time" + } + }, + { + "type": { + "id": "HP:0002904", + "label": "Hyperbilirubinemia" + } + }, + { + "type": { + "id": "HP:0031956", + "label": "Elevated circulating aspartate aminotransferase concentration" + } + }, + { + "type": { + "id": "HP:0030985", + "label": "Decreased serum bile acid concentration" + } + }, + { + "type": { + "id": "HP:0008151", + "label": "Prolonged prothrombin time" + } + }, + { + "type": { + "id": "HP:0006564", + "label": "Fluctuating hepatomegaly" + } + }, + { + "type": { + "id": "HP:0012053", + "label": "Decreased circulating calcifediol concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:214950", + "label": "Bile acid synthesis defect, congenital, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T22:09:08.863117Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_synthesis_defect_congenital_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_synthesis_defect_congenital_5_patient_1.json new file mode 100644 index 000000000..7357c2dff --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_synthesis_defect_congenital_5_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "bile_acid_synthesis_defect,_congenital,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003645", + "label": "Prolonged partial thromboplastin time" + } + }, + { + "type": { + "id": "HP:0002612", + "label": "Congenital hepatic fibrosis" + } + }, + { + "type": { + "id": "HP:0410042", + "label": "Abnormal liver morphology" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616278", + "label": "Bile acid synthesis defect, congenital, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T22:45:43.223205Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_synthesis_defect_congenital_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_synthesis_defect_congenital_6_patient_1.json new file mode 100644 index 000000000..0cca50d3b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bile_acid_synthesis_defect_congenital_6_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "bile_acid_synthesis_defect,_congenital,_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0000511", + "label": "Vertical supranuclear gaze palsy" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617308", + "label": "Bile acid synthesis defect, congenital, 6" + } + } + ], + "metaData": { + "created": "2024-06-11T20:15:15.496212Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Biliary_atresia_extrahepatic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Biliary_atresia_extrahepatic_patient_1.json new file mode 100644 index 000000000..0f2baf873 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Biliary_atresia_extrahepatic_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "biliary_atresia,_extrahepatic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001394", + "label": "Cirrhosis" + } + }, + { + "type": { + "id": "HP:0006580", + "label": "Portal fibrosis" + } + }, + { + "type": { + "id": "HP:0005242", + "label": "Extrahepatic biliary duct atresia" + } + }, + { + "type": { + "id": "HP:0031964", + "label": "Elevated circulating alanine aminotransferase concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:210500", + "label": "Biliary atresia, extrahepatic" + } + } + ], + "metaData": { + "created": "2024-06-11T21:41:31.759256Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Biliary_cirrhosis_primary_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Biliary_cirrhosis_primary_patient_1.json new file mode 100644 index 000000000..e114b2a36 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Biliary_cirrhosis_primary_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "biliary_cirrhosis,_primary", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002613", + "label": "Biliary cirrhosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:109720", + "label": "Biliary cirrhosis, primary" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:30.575704Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Biliary_renal_neurologic_and_skeletal_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Biliary_renal_neurologic_and_skeletal_syndrome_patient_1.json new file mode 100644 index 000000000..ea4d46c42 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Biliary_renal_neurologic_and_skeletal_syndrome_patient_1.json @@ -0,0 +1,243 @@ +{ + "id": "biliary,_renal,_neurologic,_and_skeletal_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004976", + "label": "Knee dislocation" + } + }, + { + "type": { 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dilatation" + } + }, + { + "type": { + "id": "HP:0003155", + "label": "Elevated circulating alkaline phosphatase concentration" + } + }, + { + "type": { + "id": "HP:0001612", + "label": "Weak cry" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0012382", + "label": "Left-to-right shunt" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0000126", + "label": "Hydronephrosis" + } + }, + { + "type": { + "id": "HP:0010625", + "label": "Anterior pituitary dysgenesis" + } + }, + { + "type": { + "id": "HP:0001396", + "label": "Cholestasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619534", + "label": "Biliary, renal, neurologic, and skeletal syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:49:51.033342Z", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Biotinidase_deficiencymultiple_carboxylase_deficiency_late_onset_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "biotinidase_deficiencymultiple_carboxylase_deficiency,_late-onset", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0005979", + "label": "Metabolic ketoacidosis" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0032943", + "label": "Abnormal urine pH" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:253260", + "label": "Biotinidase deficiencymultiple carboxylase deficiency, late-onset" + } + } + ], + "metaData": { + "created": "2024-06-11T23:24:14.657721Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Birdshot_chorioretinopathy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Birdshot_chorioretinopathy_patient_1.json new file mode 100644 index 000000000..5c95efdd1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Birdshot_chorioretinopathy_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "birdshot_chorioretinopathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100832", + "label": "Vitreous floaters" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605808", + "label": "Birdshot chorioretinopathy" + } + } + ], + "metaData": { + "created": "2024-06-11T23:43:28.399395Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Birk_Barel_mental_retardation_dysmorphism_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Birk_Barel_mental_retardation_dysmorphism_syndrome_patient_1.json new file mode 100644 index 000000000..e956625f6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Birk_Barel_mental_retardation_dysmorphism_syndrome_patient_1.json @@ -0,0 +1,98 @@ +{ + "id": "birk-barel_mental_retardation_dysmorphism_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002015", + "label": "Dysphagia" + } + }, + { + "type": { + "id": "HP:0000341", + "label": "Narrow forehead" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000276", + "label": "Long face" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0002187", + "label": "Intellectual disability, profound" + } + }, + { + "type": { + "id": "HP:0030884", + "label": "Gastrojejunal tube feeding in infancy" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0002553", + "label": "Highly arched eyebrow" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612292", + "label": "Birk-Barel mental retardation dysmorphism syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:53:00.666131Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Birk_Landau_Perez_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Birk_Landau_Perez_syndrome_patient_1.json new file mode 100644 index 000000000..d447c5b42 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Birk_Landau_Perez_syndrome_patient_1.json @@ -0,0 +1,140 @@ +{ + "id": "birk-landau-perez_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0001302", + "label": "Pachygyria" + } + }, + { + "type": { + "id": "HP:0001274", + "label": "Agenesis of corpus callosum" + } + }, + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and 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100644 index 000000000..975f9e46b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Birt_Hogg_Dube_syndrome_2_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "birt-hogg-dube_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006770", + "label": "Clear cell renal cell carcinoma" + } + }, + { + "type": { + "id": "HP:0032225", + "label": "Perifollicular fibroma" + } + }, + { + "type": { + "id": "HP:0001012", + "label": "Multiple lipomas" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620459", + "label": "Birt-Hogg-Dube syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:45:39.746358Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + 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{ + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0012718", + "label": "Abnormal gastrointestinal tract morphology" + } + }, + { + "type": { + "id": "HP:0002103", + "label": "Abnormal pleura morphology" + } + }, + { + "type": { + "id": "HP:0006772", + "label": "Renal angiomyolipoma" + } + }, + { + "type": { + "id": "HP:0006732", + "label": "Papillary renal cell carcinoma type 2" + } + }, + { + "type": { + "id": "HP:0032226", + "label": "Abnormal sebaceous gland morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:135150", + "label": "Birt-Hogg-Dube syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:37:57.254830Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bjornstad_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bjornstad_syndrome_patient_1.json new file mode 100644 index 000000000..e51885124 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bjornstad_syndrome_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "bjornstad_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002299", + "label": "Brittle hair" + } + }, + { + "type": { + "id": "HP:0001596", + "label": "Alopecia" + } + }, + { + "type": { + "id": "HP:0003329", + "label": "Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes" + } + }, + { + "type": { + "id": "HP:0002208", + "label": "Coarse hair" + } + }, + { + "type": { + "id": "HP:0003777", + "label": "Pili torti" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0000970", + "label": "Anhidrosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:262000", + "label": "Bjornstad syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:09:08.569865Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bladder_cancer_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bladder_cancer_patient_1.json new file mode 100644 index 000000000..d0ef76d2d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bladder_cancer_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "bladder_cancer", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006740", + "label": "Transitional cell carcinoma of the bladder" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:109800", + "label": "Bladder cancer" + } + } + ], + "metaData": { + "created": "2024-06-11T19:27:00.058191Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bladder_dysfunction_autonomic_with_impaired_pupillary_reflex_and_secondary_CAKUT_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bladder_dysfunction_autonomic_with_impaired_pupillary_reflex_and_secondary_CAKUT_patient_1.json new file mode 100644 index 000000000..4a612f7cf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bladder_dysfunction_autonomic_with_impaired_pupillary_reflex_and_secondary_CAKUT_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "bladder_dysfunction,_autonomic,_with_impaired_pupillary_reflex_and_secondary_cakut", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000011", + "label": "Neurogenic bladder" + } + }, + { + "type": { + "id": "HP:0025634", + "label": "Abnormal ureter physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:191800", + "label": "Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT" + } + } + ], + "metaData": { + "created": "2024-06-11T19:17:32.909558Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Blau_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Blau_syndrome_patient_1.json new file mode 100644 index 000000000..12b941c12 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Blau_syndrome_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "blau_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007432", + "label": "Intermittent generalized erythematous papular rash" + } + }, + { + "type": { + "id": "HP:0011505", + "label": "Cystoid macular edema" + } + }, + { + "type": { + "id": "HP:0000554", + "label": "Uveitis" + } + }, + { + "type": { + "id": "HP:0000598", + "label": "Abnormality of the ear" + } + }, + { + "type": { + "id": "HP:0100769", + "label": "Synovitis" + } + }, + { + "type": { + "id": "HP:0025452", + "label": "Pyoderma gangrenosum" + } + }, + { + "type": { + "id": "HP:6000642", + "label": "Sunflower cataract" + } + }, + { + "type": { + "id": "HP:0001220", + "label": "Interphalangeal joint contracture of finger" + } + }, + { + "type": { + "id": "HP:0000969", + "label": "Edema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:186580", + "label": "Blau syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:46:33.612759Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_11_patient_1.json new file mode 100644 index 000000000..48f24977f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_11_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "bleeding_disorder,_platelet-type,_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008320", + "label": "Impaired collagen-induced platelet aggregation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614201", + "label": "Bleeding disorder, platelet-type, 11" + } + } + ], + "metaData": { + "created": "2024-06-11T20:06:49.837657Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_12_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_12_patient_1.json new file mode 100644 index 000000000..53607f5f7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_12_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "bleeding_disorder,_platelet-type,_12", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005261", + "label": "Joint hemorrhage" + } + }, + { + "type": { + "id": "HP:0000132", + "label": "Menorrhagia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605735", + "label": "Bleeding disorder, platelet-type, 12" + } + } + ], + "metaData": { + "created": "2024-06-11T19:47:21.822763Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_13_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_13_susceptibility_to_patient_1.json new file mode 100644 index 000000000..02ae032e8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_13_susceptibility_to_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "bleeding_disorder,_platelet-type,_13,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000421", + "label": "Epistaxis" + } + }, + { + "type": { + "id": "HP:0001933", + "label": "Subcutaneous hemorrhage" + } + }, + { + "type": { + "id": "HP:0011869", + "label": "Abnormal platelet function" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614009", + "label": "Bleeding disorder, platelet-type, 13, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T21:16:40.475010Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_15_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_15_patient_1.json new file mode 100644 index 000000000..10a15bc42 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_15_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "bleeding_disorder,_platelet-type,_15", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011877", + "label": "Increased mean platelet volume" + } + }, + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0032438", + "label": "Platelet anisocytosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615193", + "label": "Bleeding disorder, platelet-type, 15" + } + } + ], + "metaData": { + "created": "2024-06-11T18:40:15.579622Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_16_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_16_patient_1.json new file mode 100644 index 000000000..af5975c59 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_16_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "bleeding_disorder,_platelet-type,_16", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003540", + "label": "Impaired platelet aggregation" + } + }, + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0032438", + "label": "Platelet anisocytosis" + } + }, + { + "type": { + "id": "HP:0011875", + "label": "Abnormal platelet morphology" + } + }, + { + "type": { + "id": "HP:0011276", + "label": "Vascular skin abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:187800", + "label": "Bleeding disorder, platelet-type, 16" + } + } + ], + "metaData": { + "created": "2024-06-11T19:55:58.620905Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_17_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_17_patient_1.json new file mode 100644 index 000000000..b0160094d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_17_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "bleeding_disorder,_platelet-type,_17", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P3Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011974", + "label": "Myelofibrosis" + } + }, + { + "type": { + "id": "HP:0000421", + "label": "Epistaxis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:187900", + "label": "Bleeding disorder, platelet-type, 17" + } + } + ], + "metaData": { + "created": "2024-06-11T17:49:19.561417Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_18_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_18_patient_1.json new file mode 100644 index 000000000..b6c1e7fde --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_18_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "bleeding_disorder,_platelet-type,_18", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000978", + "label": "Bruising susceptibility" + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615888", + "label": "Bleeding disorder, platelet-type, 18" + } + } + ], + "metaData": { + "created": "2024-06-11T19:54:29.293932Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_19_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_19_patient_1.json new file mode 100644 index 000000000..1dfffc06c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_19_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "bleeding_disorder,_platelet-type,_19", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0011875", + "label": "Abnormal platelet morphology" + } + }, + { + "type": { + "id": "HP:0001973", + "label": "Autoimmune thrombocytopenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616176", + "label": "Bleeding disorder, platelet-type, 19" + } + } + ], + "metaData": { + "created": "2024-06-11T20:25:27.590527Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_20_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_20_patient_1.json new file mode 100644 index 000000000..056d7039e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_20_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "bleeding_disorder,_platelet-type,_20", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040185", + "label": "Macrothrombocytopenia" + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616913", + "label": "Bleeding disorder, platelet-type, 20" + } + } + ], + "metaData": { + "created": "2024-06-11T22:43:08.892370Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_21_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_21_patient_1.json new file mode 100644 index 000000000..5c75b3703 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_21_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "bleeding_disorder,_platelet-type,_21", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011362", + "label": "Abnormal hair quantity" + } + }, + { + "type": { + "id": "HP:0003765", + "label": "Psoriasiform dermatitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617443", + "label": "Bleeding disorder, platelet-type, 21" + } + } + ], + "metaData": { + "created": "2024-06-11T19:47:03.882524Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_22_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_22_patient_1.json new file mode 100644 index 000000000..0da6ed706 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_22_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "bleeding_disorder,_platelet-type,_22", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004866", + "label": "Impaired ADP-induced platelet aggregation" + } + }, + { + "type": { + "id": "HP:0008320", + "label": "Impaired collagen-induced platelet aggregation" + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618462", + "label": "Bleeding disorder, platelet-type, 22" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:28.196415Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_24_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_24_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..2344140d8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_24_autosomal_dominant_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "bleeding_disorder,_platelet-type,_24,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008320", + "label": "Impaired collagen-induced platelet aggregation" + } + }, + { + "type": { + "id": "HP:0004866", + "label": "Impaired ADP-induced platelet aggregation" + } + }, + { + "type": { + "id": "HP:0011869", + "label": "Abnormal platelet function" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619271", + "label": "Bleeding disorder, platelet-type, 24, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T22:03:56.193363Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_25_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_25_patient_1.json new file mode 100644 index 000000000..2ac4bb633 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_25_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "bleeding_disorder,_platelet-type,_25", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011877", + "label": "Increased mean platelet volume" + } + }, + { + "type": { + "id": "HP:0011873", + "label": "Abnormal platelet count" + } + }, + { + "type": { + "id": "HP:0000132", + "label": "Menorrhagia" + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + }, + { + "type": { + "id": "HP:0030138", + "label": "Excessive bleeding from superficial cuts" + } + }, + { + "type": { + "id": "HP:0011875", + "label": "Abnormal platelet morphology" + } + }, + { + "type": { + "id": "HP:0011869", + "label": "Abnormal platelet function" + } + }, + { + "type": { + "id": "HP:0000978", + "label": "Bruising susceptibility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620486", + "label": "Bleeding disorder, platelet-type, 25" + } + } + ], + "metaData": { + "created": "2024-06-11T23:40:02.155852Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_8_patient_1.json new file mode 100644 index 000000000..d06a93d64 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_8_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "bleeding_disorder,_platelet-type,_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034771", + "label": "Battle sign" + } + }, + { + "type": { + "id": "HP:0004406", + "label": "Spontaneous, recurrent epistaxis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609821", + "label": "Bleeding disorder, platelet-type, 8" + } + } + ], + "metaData": { + "created": "2024-06-11T23:31:26.041378Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_9_patient_1.json new file mode 100644 index 000000000..2c5ef2ca7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bleeding_disorder_platelet_type_9_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "bleeding_disorder,_platelet-type,_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000978", + "label": "Bruising susceptibility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614200", + "label": "Bleeding disorder, platelet-type, 9" + } + } + ], + "metaData": { + "created": "2024-06-11T19:53:28.710196Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharochalasis_and_double_lip_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharochalasis_and_double_lip_patient_1.json new file mode 100644 index 000000000..d48cfd31c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharochalasis_and_double_lip_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "blepharochalasis_and_double_lip", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040295", + "label": "Duplication of the upper lip" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:109900", + "label": "Blepharochalasis and double lip" + } + } + ], + "metaData": { + "created": "2024-06-11T18:15:05.856475Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharochalasis_superior_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharochalasis_superior_patient_1.json new file mode 100644 index 000000000..bb27bb105 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharochalasis_superior_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "blepharochalasis,_superior", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010749", + "label": "Blepharochalasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:110000", + "label": "Blepharochalasis, superior" + } + } + ], + "metaData": { + "created": "2024-06-11T19:32:59.189320Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharocheilodontic_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharocheilodontic_syndrome_1_patient_1.json new file mode 100644 index 000000000..47fb46fa2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharocheilodontic_syndrome_1_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "blepharocheilodontic_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002164", + "label": "Nail dysplasia" + } + }, + { + "type": { + "id": "HP:0000348", + "label": "High forehead" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + }, + { + "type": { + "id": "HP:0007536", + "label": "Aplasia cutis congenita of midline scalp vertex" + } + }, + { + "type": { + "id": "HP:0006088", + "label": "1-5 finger complete cutaneous syndactyly" + } + }, + { + "type": { + "id": "HP:0012368", + "label": "Flat face" + } + }, + { + "type": { + "id": "HP:0005769", + "label": "Fifth finger distal phalanx clinodactyly" + } + }, + { + "type": { + "id": "HP:0000492", + "label": "Abnormal eyelid morphology" + } + }, + { + "type": { + "id": "HP:0006482", + "label": "Abnormal dental morphology" + } + }, + { + "type": { + "id": "HP:5201001", + "label": "Complete unilateral cleft lip" + } + }, + { + "type": { + "id": "HP:0001595", + "label": "Abnormal hair morphology" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0009890", + "label": "High anterior hairline" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:119580", + "label": "Blepharocheilodontic syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:55:55.267232Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharocheilodontic_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharocheilodontic_syndrome_2_patient_1.json new file mode 100644 index 000000000..967c3ffc5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharocheilodontic_syndrome_2_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "blepharocheilodontic_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007651", + "label": "Ectropion of lower eyelids" + } + }, + { + "type": { + "id": "HP:0000698", + "label": "Conical tooth" + } + }, + { + "type": { + "id": "HP:0000324", + "label": "Facial asymmetry" + } + }, + { + "type": { + "id": "HP:0000348", + "label": "High forehead" + } + }, + { + "type": { + "id": "HP:0009804", + "label": "Tooth agenesis" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0012725", + "label": "Cutaneous syndactyly" + } + }, + { + "type": { + "id": "HP:0012905", + "label": "Euryblepharon" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617681", + "label": "Blepharocheilodontic syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:28:02.575084Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharonasofacial_malformation_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharonasofacial_malformation_syndrome_patient_1.json new file mode 100644 index 000000000..6d2d52ab0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharonasofacial_malformation_syndrome_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "blepharonasofacial_malformation_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010628", + "label": "Facial palsy" + } + }, + { + "type": { + "id": "HP:0000298", + "label": "Mask-like facies" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:110050", + "label": "Blepharonasofacial malformation syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:39:03.799931Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharophimosis_epicanthus_inversus_and_ptosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharophimosis_epicanthus_inversus_and_ptosis_patient_1.json new file mode 100644 index 000000000..87b135c71 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharophimosis_epicanthus_inversus_and_ptosis_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "blepharophimosis,_epicanthus_inversus,_and_ptosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000581", + "label": "Blepharophimosis" + } + }, + { + "type": { + "id": "HP:0000540", + "label": "Hypermetropia" + } + }, + { + "type": { + "id": "HP:0011362", + "label": "Abnormal hair quantity" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + }, + { + "type": { + "id": "HP:0200007", + "label": "Abnormal size of the palpebral fissures" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + }, + { + "type": { + "id": "HP:0000869", + "label": "Secondary amenorrhea" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0000013", + "label": "Hypoplasia of the uterus" + } + }, + { + "type": { + "id": "HP:0000378", + "label": "Cupped ear" + } + }, + { + "type": { + "id": "HP:0007911", + "label": "Congenital bilateral ptosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:110100", + "label": "Blepharophimosis, epicanthus inversus, and ptosis" + } + } + ], + "metaData": { + "created": "2024-06-11T18:09:19.153272Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharophimosis_impaired_intellectual_development_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharophimosis_impaired_intellectual_development_syndrome_patient_1.json new file mode 100644 index 000000000..954b7adec --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharophimosis_impaired_intellectual_development_syndrome_patient_1.json @@ -0,0 +1,297 @@ +{ + "id": "blepharophimosis-impaired_intellectual_development_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0000574", + "label": "Thick eyebrow" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0010751", + "label": "Dimple chin" + } + }, + { + "type": { + "id": "HP:0045025", + "label": "Narrow palpebral fissure" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharospasm_benign_essential_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharospasm_benign_essential_susceptibility_to_patient_1.json new file mode 100644 index 000000000..6175d6de5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Blepharospasm_benign_essential_susceptibility_to_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "blepharospasm,_benign_essential,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000643", + "label": "Blepharospasm" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606798", + "label": "Blepharospasm, benign essential, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T19:27:36.442824Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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100644 index 000000000..6ebe0bfe2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Blue_cone_monochromacy_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "blue_cone_monochromacy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:303700", + "label": "Blue cone monochromacy" + } + } + ], + "metaData": { + "created": "2024-06-11T18:19:13.621782Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Blue_diaper_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Blue_diaper_syndrome_patient_1.json new file mode 100644 index 000000000..48d34513f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Blue_diaper_syndrome_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "blue_diaper_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003072", + "label": "Hypercalcemia" + } + }, + { + "type": { + "id": "HP:0006564", + "label": "Fluctuating hepatomegaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:211000", + "label": "Blue diaper syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:35:24.545934Z", + "createdBy": 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"patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000153", + "label": "Abnormality of the mouth" + } + }, + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0002584", + "label": "Intestinal bleeding" + } + }, + { + "type": { + "id": "HP:0011843", + "label": "Abnormal musculoskeletal physiology" + } + }, + { + "type": { + "id": "HP:0002580", + "label": "Volvulus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:112200", + "label": "Blue rubber bleb nevus" + } + } + ], + "metaData": { + "created": "2024-06-11T20:36:18.168995Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bone_marrow_failure_syndrome_1_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "bone_marrow_failure_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0001915", + "label": "Aplastic anemia" + } + }, + { + "type": { + "id": "HP:0005528", + "label": "Bone marrow hypocellularity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614675", + "label": "Bone marrow failure syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:57:21.013566Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bone_marrow_failure_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bone_marrow_failure_syndrome_2_patient_1.json new file mode 100644 index 000000000..db0c4c0f3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bone_marrow_failure_syndrome_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "bone_marrow_failure_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0005528", + "label": "Bone marrow hypocellularity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615715", + "label": "Bone marrow failure syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:12:12.683437Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bone_marrow_failure_syndrome_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bone_marrow_failure_syndrome_3_patient_1.json new file mode 100644 index 000000000..cb1aa9a5f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bone_marrow_failure_syndrome_3_patient_1.json @@ -0,0 +1,255 @@ +{ + "id": "bone_marrow_failure_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0001374", + "label": "Congenital hip dislocation" + } + }, + { + "type": { + "id": "HP:0006276", + "label": "Hyperechogenic pancreas" + } + }, + { + "type": { + "id": "HP:0000691", + "label": "Microdontia" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0008404", + "label": "Nail dystrophy" + } + }, + { + "type": { + "id": "HP:0000705", + "label": "Amelogenesis imperfecta" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + 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} +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bone_marrow_failure_syndrome_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bone_marrow_failure_syndrome_4_patient_1.json new file mode 100644 index 000000000..2f0b69c55 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bone_marrow_failure_syndrome_4_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "bone_marrow_failure_syndrome_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0005528", + "label": "Bone marrow hypocellularity" + } + }, + { + "type": { + "id": "HP:0000964", + "label": "Eczematoid dermatitis" + } + }, + { + "type": { + "id": "HP:0004313", + "label": "Decreased circulating antibody level" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0001507", + 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+ ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bone_marrow_failure_syndrome_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bone_marrow_failure_syndrome_6_patient_1.json new file mode 100644 index 000000000..9c4c01d71 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bone_marrow_failure_syndrome_6_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "bone_marrow_failure_syndrome_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031413", + "label": "Short telomere length" + } + }, + { + "type": { + "id": "HP:0001888", + "label": "Lymphopenia" + } + }, + { + "type": { + "id": "HP:0001875", + "label": "Neutropenia" + } + }, + { + "type": { + "id": "HP:0005528", + "label": "Bone marrow hypocellularity" + } + }, + { + "type": { + "id": "HP:0012432", + "label": "Chronic fatigue" + } + }, + { + "type": { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Borjeson_Forssman_Lehmann_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Borjeson_Forssman_Lehmann_syndrome_patient_1.json new file mode 100644 index 000000000..878f8e667 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Borjeson_Forssman_Lehmann_syndrome_patient_1.json @@ -0,0 +1,159 @@ +{ + "id": "borjeson-forssman-lehmann_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000581", + "label": "Blepharophimosis" + } + }, + { + "type": { + "id": "HP:0000400", + "label": "Macrotia" + } + }, + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0000823", + "label": "Delayed puberty" + } + }, + { + "type": { + "id": "HP:0008687", + "label": "Hypoplasia of the prostate" + } + }, + { + "type": { + "id": "HP:0010854", 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bornholm_eye_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bornholm_eye_disease_patient_1.json new file mode 100644 index 000000000..10b9a6e04 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bornholm_eye_disease_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "bornholm_eye_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000654", + "label": "Decreased light- and dark-adapted electroretinogram amplitude" + } + }, + { + "type": { + "id": "HP:0007703", + "label": "Abnormality of retinal pigmentation" + } + }, + { + "type": { + "id": "HP:0011522", + "label": "Protanopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300843", + "label": "Bornholm eye disease" + } + } + ], + "metaData": { + "created": "2024-06-11T21:21:21.412183Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bosch_Boonstra_Schaaf_optic_atrophy_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bosch_Boonstra_Schaaf_optic_atrophy_syndrome_patient_1.json new file mode 100644 index 000000000..5ad3ae59e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bosch_Boonstra_Schaaf_optic_atrophy_syndrome_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "bosch-boonstra-schaaf_optic_atrophy_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000426", + "label": "Prominent nasal bridge" + } + }, + { + "type": { + "id": "HP:0500079", + "label": "Alternating hypophoria" + } + }, + { + "type": { + "id": "HP:0001098", + "label": "Abnormal fundus morphology" + } + }, + { + "type": { + "id": "HP:0011261", + "label": "Darwin tubercle of helix" + } + }, + { + "type": { + "id": "HP:0000646", + "label": "Amblyopia" + } + }, + { + "type": { + "id": "HP:0011470", + "label": "Nasogastric tube feeding in infancy" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0100704", + "label": "Cerebral visual impairment" + } + }, + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615722", + "label": "Bosch-Boonstra-Schaaf optic atrophy syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:42:29.382850Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bosma_arhinia_microphthalmia_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bosma_arhinia_microphthalmia_syndrome_patient_1.json new file mode 100644 index 000000000..42add1a90 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bosma_arhinia_microphthalmia_syndrome_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "bosma_arhinia_microphthalmia_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0000047", + "label": "Hypospadias" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0000589", + "label": "Coloboma" + } + }, + { + "type": { + "id": "HP:0000685", + "label": "Hypoplasia of teeth" + } + }, + { + "type": { + "id": "HP:0006784", + "label": "Paranasal sinus hypoplasia" + } + }, + { + "type": { + "id": "HP:0410031", + "label": "Submucous cleft of soft and hard palate" + } + }, + { + "type": { + "id": "HP:0009927", + "label": "Aplasia of the nose" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603457", + "label": "Bosma arhinia microphthalmia syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:07:27.897651Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bothnia_retinal_dystrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bothnia_retinal_dystrophy_patient_1.json new file mode 100644 index 000000000..9ae718617 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bothnia_retinal_dystrophy_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "bothnia_retinal_dystrophy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000608", + "label": "Macular degeneration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607475", + "label": "Bothnia retinal dystrophy" + } + } + ], + "metaData": { + "created": "2024-06-11T22:20:40.813465Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Boucher_Neuhauser_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Boucher_Neuhauser_syndrome_patient_1.json new file mode 100644 index 000000000..1535c3f16 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Boucher_Neuhauser_syndrome_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "boucher-neuhauser_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007924", + "label": "Slow decrease in visual acuity" + } + }, + { + "type": { + "id": "HP:0007240", + "label": "Progressive gait ataxia" + } + }, + { + "type": { + "id": "HP:0001315", + "label": "Reduced tendon reflexes" + } + }, + { + "type": { + "id": "HP:0000044", + "label": "Hypogonadotropic hypogonadism" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0002470", + "label": "Nonprogressive cerebellar ataxia" + } + }, + { + "type": { + "id": "HP:0002168", + "label": "Scanning speech" + } + }, + { + "type": { + "id": "HP:0000556", + "label": "Retinal dystrophy" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:215470", + "label": "Boucher-Neuhauser syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:55:38.292870Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Boudin_Mortier_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Boudin_Mortier_syndrome_patient_1.json new file mode 100644 index 000000000..8acb1be34 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Boudin_Mortier_syndrome_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "boudin-mortier_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001847", + "label": "Long hallux" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0011297", + "label": "Abnormal digit morphology" + } + }, + { + "type": { + "id": "HP:0001167", + "label": "Abnormal finger morphology" + } + }, + { + "type": { + "id": "HP:0001654", + "label": "Abnormal heart valve morphology" + } + }, + { + "type": { + "id": "HP:0002616", + "label": "Aortic root aneurysm" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0001182", + "label": "Tapered finger" + } + }, + { + "type": { + "id": "HP:0009671", + "label": "Pseudoepiphysis of the proximal phalanx of the thumb" + } + }, + { + "type": { + "id": "HP:0003517", + "label": "Birth length greater than 97th percentile" + } + }, + { + "type": { + "id": "HP:0045087", + "label": "Hip joint hypermobility" + } + }, + { + "type": { + "id": "HP:0003155", + "label": "Elevated circulating alkaline phosphatase concentration" + } + }, + { + "type": { + "id": "HP:0010022", + "label": "Pseudoepiphysis of the 1st metacarpal" + } + }, + { + "type": { + "id": "HP:0009531", + "label": "Pseudoepiphysis of the proximal phalanx of the 2nd finger" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619543", + "label": "Boudin-Mortier syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:08:28.804882Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bowen_Conradi_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bowen_Conradi_syndrome_patient_1.json new file mode 100644 index 000000000..9b89d86b5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bowen_Conradi_syndrome_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "bowen-conradi_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001838", + "label": "Rocker bottom foot" + } + }, + { + "type": { + "id": "HP:0004209", + "label": "Clinodactyly of the 5th finger" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:211180", + "label": "Bowen-Conradi syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:22:18.097911Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachial_amelia_cleft_lip_and_holoprosencephaly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachial_amelia_cleft_lip_and_holoprosencephaly_patient_1.json new file mode 100644 index 000000000..e0fb4ae2b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachial_amelia_cleft_lip_and_holoprosencephaly_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "brachial_amelia,_cleft_lip,_and_holoprosencephaly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001360", + "label": "Holoprosencephaly" + } + }, + { + "type": { + "id": "HP:0000204", + "label": "Cleft upper lip" + } + }, + { + "type": { + "id": "HP:0001539", + "label": "Omphalocele" + } + }, + { + "type": { + "id": "HP:0100842", + "label": "Septo-optic dysplasia" + } + }, + { + "type": { + "id": "HP:0007035", + "label": "Anterior encephalocele" + } + }, + { + "type": { + "id": "HP:0011683", + "label": "Restrictive ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0003097", + "label": "Short femur" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601357", + "label": "Brachial amelia, cleft lip, and holoprosencephaly" + } + } + ], + "metaData": { + "created": "2024-06-11T19:36:49.303923Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachmann_De_lange_like_facial_changes_with_microcephaly_metatarsusadductus_and_developmental_delay_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachmann_De_lange_like_facial_changes_with_microcephaly_metatarsusadductus_and_developmental_delay_patient_1.json new file mode 100644 index 000000000..d773cdf21 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachmann_De_lange_like_facial_changes_with_microcephaly_metatarsusadductus_and_developmental_delay_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "brachmann-de_lange-like_facial_changes_with_microcephaly,_metatarsusadductus,_and_developmental_delay", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:112370", + "label": "Brachmann-De lange-like facial changes with microcephaly, metatarsusadductus, and developmental delay" + } + } + ], + "metaData": { + "created": "2024-06-11T19:54:27.492554Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachycephaly_deafness_cataract_microstomia_and_mental_retardation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachycephaly_deafness_cataract_microstomia_and_mental_retardation_patient_1.json new file mode 100644 index 000000000..6ac53c30c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachycephaly_deafness_cataract_microstomia_and_mental_retardation_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "brachycephaly,_deafness,_cataract,_microstomia,_and_mental_retardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0000527", + "label": "Long eyelashes" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0012385", + "label": "Camptodactyly" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601353", + "label": "Brachycephaly, deafness, cataract, microstomia, and mental retardation" + } + } + ], + "metaData": { + "created": "2024-06-11T20:49:03.008020Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachycephaly_trichomegaly_and_developmental_delay_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachycephaly_trichomegaly_and_developmental_delay_patient_1.json new file mode 100644 index 000000000..d1600a5e5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachycephaly_trichomegaly_and_developmental_delay_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "brachycephaly,_trichomegaly,_and_developmental_delay", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000954", + "label": "Single transverse palmar crease" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0005469", + "label": "Flat occiput" + } + }, + { + "type": { + "id": "HP:0000664", + "label": "Synophrys" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000574", + "label": "Thick eyebrow" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + }, + { + "type": { + "id": "HP:0006483", + "label": "Abnormal number of teeth" + } + }, + { + "type": { + "id": "HP:0001212", + "label": "Prominent fingertip pads" + } + }, + { + "type": { + "id": "HP:0000592", + "label": "Blue sclerae" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0000534", + "label": "Abnormal eyebrow morphology" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617412", + "label": "Brachycephaly, trichomegaly, and developmental delay" + } + } + ], + "metaData": { + "created": "2024-06-12T02:25:20.645222Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactylous_dwarfism_Mseleni_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactylous_dwarfism_Mseleni_type_patient_1.json new file mode 100644 index 000000000..e1b4401c0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactylous_dwarfism_Mseleni_type_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "brachydactylous_dwarfism,_mseleni_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003510", + "label": "Severe short stature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613342", + "label": "Brachydactylous dwarfism, Mseleni type" + } + } + ], + "metaData": { + "created": "2024-06-11T19:26:55.251131Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_Ectrodactyly_with_fibular_aplasia_or_hypoplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_Ectrodactyly_with_fibular_aplasia_or_hypoplasia_patient_1.json new file mode 100644 index 000000000..29c4e6a5e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_Ectrodactyly_with_fibular_aplasia_or_hypoplasia_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "brachydactyly-ectrodactyly_with_fibular_aplasia_or_hypoplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002990", + "label": "Fibular aplasia" + } + }, + { + "type": { + "id": "HP:0002990", + "label": "Fibular aplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:113310", + "label": "Brachydactyly-Ectrodactyly with fibular aplasia or hypoplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T21:49:44.482305Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_Nystagmus_Cerebellar_ataxia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_Nystagmus_Cerebellar_ataxia_patient_1.json new file mode 100644 index 000000000..a8ce0c5e5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_Nystagmus_Cerebellar_ataxia_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "brachydactyly-nystagmus-cerebellar_ataxia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0010044", + "label": "Short 4th metacarpal" + } + }, + { + "type": { + "id": "HP:0004686", + "label": "Short third metatarsal" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:113400", + "label": "Brachydactyly-Nystagmus-Cerebellar ataxia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:13.004939Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_Syndactyly_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_Syndactyly_syndrome_patient_1.json new file mode 100644 index 000000000..70f3087f7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_Syndactyly_syndrome_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "brachydactyly-syndactyly_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009803", + "label": "Short phalanx of finger" + } + }, + { + "type": { + "id": "HP:0012385", + "label": "Camptodactyly" + } + }, + { + "type": { + "id": "HP:0012165", + "label": "Oligodactyly" + } + }, + { + "type": { + "id": "HP:0001159", + "label": "Syndactyly" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610713", + "label": "Brachydactyly-Syndactyly syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:55:53.035723Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_coloboma_and_anterior_segment_dysgenesis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_coloboma_and_anterior_segment_dysgenesis_patient_1.json new file mode 100644 index 000000000..cdddf7cf6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_coloboma_and_anterior_segment_dysgenesis_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "brachydactyly,_coloboma,_and_anterior_segment_dysgenesis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + } + }, + { + "type": { + "id": "HP:0030084", + "label": "Clinodactyly" + } + }, + { + "type": { + "id": "HP:0007700", + "label": "Ocular anterior segment dysgenesis" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0012633", + "label": "Asymmetry of intraocular pressure" + } + }, + { + "type": { + "id": "HP:0011343", + "label": "Moderate global developmental delay" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610023", + "label": "Brachydactyly, coloboma, and anterior segment dysgenesis" + } + } + ], + "metaData": { + "created": "2024-06-12T02:16:30.790391Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_preaxial_with_hallux_varus_and_thumb_abduction_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_preaxial_with_hallux_varus_and_thumb_abduction_patient_1.json new file mode 100644 index 000000000..fa9dcd039 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_preaxial_with_hallux_varus_and_thumb_abduction_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "brachydactyly,_preaxial,_with_hallux_varus_and_thumb_abduction", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009778", + "label": "Short thumb" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:112450", + "label": "Brachydactyly, preaxial, with hallux varus and thumb abduction" + } + } + ], + "metaData": { + "created": "2024-06-11T23:48:11.412746Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A1_B_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A1_B_patient_1.json new file mode 100644 index 000000000..0e2b21e30 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A1_B_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "brachydactyly,_type_a1,_b", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + }, + { + "type": { + "id": "HP:0009462", + "label": "Radial deviation of the 3rd finger" + } + }, + { + "type": { + "id": "HP:0004227", + "label": "Short distal phalanx of the 5th finger" + } + }, + { + "type": { + "id": "HP:0005918", + "label": "Abnormal finger phalanx morphology" + } + }, + { + "type": { + "id": "HP:0008111", + "label": "Broad distal hallux" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607004", + "label": "Brachydactyly, type A1, B" + } + } + ], + "metaData": { + "created": "2024-06-11T23:45:00.709189Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A1_C_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A1_C_patient_1.json new file mode 100644 index 000000000..2d965f37d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A1_C_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "brachydactyly,_type_a1,_c", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005927", + "label": "Aplasia/hypoplasia involving bones of the hand" + } + }, + { + "type": { + "id": "HP:0009373", + "label": "Type C brachydactyly" + } + }, + { + "type": { + "id": "HP:0003561", + "label": "Birth length less than 3rd percentile" + } + }, + { + "type": { + "id": "HP:0001167", + "label": "Abnormal finger morphology" + } + }, + { + "type": { + "id": "HP:0009767", + "label": "Aplasia/Hypoplasia of the phalanges of the hand" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615072", + "label": "Brachydactyly, type A1, C" + } + } + ], + "metaData": { + "created": "2024-06-11T21:53:29.100606Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A1_D_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A1_D_patient_1.json new file mode 100644 index 000000000..e2b557f67 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A1_D_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "brachydactyly,_type_a1,_d", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009568", + "label": "Aplasia/Hypoplasia of the middle phalanx of the 2nd finger" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0004220", + "label": "Short middle phalanx of the 5th finger" + } + }, + { + "type": { + "id": "HP:0009638", + "label": "Short proximal phalanx of thumb" + } + }, + { + "type": { + "id": "HP:0009566", + "label": "Short distal phalanx of the 2nd finger" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616849", + "label": "Brachydactyly, type A1, D" + } + } + ], + "metaData": { + "created": "2024-06-11T23:41:10.039348Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A1_patient_1.json new file mode 100644 index 000000000..77e757b99 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A1_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "brachydactyly,_type_a1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001169", + "label": "Broad palm" + } + }, + { + "type": { + "id": "HP:0010161", + "label": "Abnormal toe phalanx morphology" + } + }, + { + "type": { + "id": "HP:0009426", + "label": "Distal/middle symphalangism of 3rd finger" + } + }, + { + "type": { + "id": "HP:0005922", + "label": "Abnormal hand morphology" + } + }, + { + "type": { + "id": "HP:0005922", + "label": "Abnormal hand morphology" + } + }, + { + "type": { + "id": "HP:0005769", + "label": "Fifth finger distal phalanx clinodactyly" + } + }, + { + "type": { + "id": "HP:0010107", + "label": "Short proximal phalanx of hallux" + } + }, + { + "type": { + "id": "HP:0005922", + "label": "Abnormal hand morphology" + } + }, + { + "type": { + "id": "HP:0010044", + "label": "Short 4th metacarpal" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:112500", + "label": "Brachydactyly, type A1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:27:00.163250Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A2_patient_1.json new file mode 100644 index 000000000..37a3422a0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A2_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "brachydactyly,_type_a2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009536", + "label": "Short 2nd finger" + } + }, + { + "type": { + "id": "HP:0010109", + "label": "Short hallux" + } + }, + { + "type": { + "id": "HP:0011297", + "label": "Abnormal digit morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:112600", + "label": "Brachydactyly, type A2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:57:27.495984Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A2_with_microcephaly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A2_with_microcephaly_patient_1.json new file mode 100644 index 000000000..153898c96 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A2_with_microcephaly_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "brachydactyly,_type_a2,_with_microcephaly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000819", + "label": "Diabetes mellitus" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0000253", + "label": "Progressive microcephaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:211369", + "label": "Brachydactyly, type A2, with microcephaly" + } + } + ], + "metaData": { + "created": "2024-06-11T22:27:53.260796Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A3_patient_1.json new file mode 100644 index 000000000..6933e8de4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "brachydactyly,_type_a3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009370", + "label": "Type A brachydactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:112700", + "label": "Brachydactyly, type A3" + } + } + ], + "metaData": { + "created": "2024-06-11T17:43:07.827061Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A4_patient_1.json new file mode 100644 index 000000000..b8ff390f1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A4_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "brachydactyly,_type_a4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031044", + "label": "Type A5 brachydactyly" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0010173", + "label": "Aplasia/Hypoplasia of the phalanges of the toes" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:112800", + "label": "Brachydactyly, type A4" + } + } + ], + "metaData": { + "created": "2024-06-11T22:28:34.070913Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A6_patient_1.json new file mode 100644 index 000000000..9712981a1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_A6_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "brachydactyly,_type_a6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009843", + "label": "Aplasia/Hypoplasia of the middle phalanges of the hand" + } + }, + { + "type": { + "id": "HP:0008368", + "label": "Tarsal synostosis" + } + }, + { + "type": { + "id": "HP:0001500", + "label": "Broad finger" + } + }, + { + "type": { + "id": "HP:0009803", + "label": "Short phalanx of finger" + } + }, + { + "type": { + "id": "HP:0005013", + "label": "Dysplastic distal radial epiphyses" + } + }, + { + "type": { + "id": "HP:0000925", + "label": "Abnormality of the vertebral column" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:112910", + "label": "Brachydactyly, type A6" + } + } + ], + "metaData": { + "created": "2024-06-11T23:28:24.514016Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_B1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_B1_patient_1.json new file mode 100644 index 000000000..e5f31200d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_B1_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "brachydactyly,_type_b1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003026", + "label": "Short long bone" + } + }, + { + "type": { + "id": "HP:0010185", + "label": "Aplasia/Hypoplasia of the distal phalanges of the toes" + } + }, + { + "type": { + "id": "HP:0012385", + "label": "Camptodactyly" + } + }, + { + "type": { + "id": "HP:0009473", + "label": "Joint contracture of the hand" + } + }, + { + "type": { + "id": "HP:0009642", + "label": "Broad distal phalanx of the thumb" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:113000", + "label": "Brachydactyly, type B1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:47:23.044929Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_B2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_B2_patient_1.json new file mode 100644 index 000000000..75bee5ea0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_B2_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "brachydactyly,_type_b2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010034", + "label": "Short 1st metacarpal" + } + }, + { + "type": { + "id": "HP:0001204", + "label": "Distal symphalangism of hands" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0006152", + "label": "Proximal symphalangism of hands" + } + }, + { + "type": { + "id": "HP:0009882", + "label": "Short distal phalanx of finger" + } + }, + { + "type": { + "id": "HP:0009843", + "label": "Aplasia/Hypoplasia of the middle phalanges of the hand" + } + }, + { + "type": { + "id": "HP:0010621", + "label": "Cutaneous syndactyly of toes" + } + }, + { + "type": { + "id": "HP:0010185", + "label": "Aplasia/Hypoplasia of the distal phalanges of the toes" + } + }, + { + "type": { + "id": "HP:0008499", + "label": "High hypermetropia" + } + }, + { + "type": { + "id": "HP:0100240", + "label": "Synostosis of joints" + } + }, + { + "type": { + "id": "HP:0008122", + "label": "Calcaneonavicular fusion" + } + }, + { + "type": { + "id": "HP:0008386", + "label": "Aplasia/Hypoplasia of the nails" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611377", + "label": "Brachydactyly, type B2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:22:31.601453Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_C_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_C_patient_1.json new file mode 100644 index 000000000..349511341 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_C_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "brachydactyly,_type_c", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009577", + "label": "Short middle phalanx of the 2nd finger" + } + }, + { + "type": { + "id": "HP:0004220", + "label": "Short middle phalanx of the 5th finger" + } + }, + { + "type": { + "id": "HP:0009534", + "label": "Triangular epiphysis of the proximal phalanx of the 2nd finger" + } + }, + { + "type": { + "id": "HP:0002750", + "label": "Delayed skeletal maturation" + } + }, + { + "type": { + "id": "HP:0001772", + "label": "Talipes equinovalgus" + } + }, + { + "type": { + "id": "HP:0009575", + "label": "Triangular shaped middle phalanx of the 2nd finger" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + }, + { + "type": { + "id": "HP:0009468", + "label": "Deviation of the 2nd finger" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:113100", + "label": "Brachydactyly, type C" + } + } + ], + "metaData": { + "created": "2024-06-11T22:35:54.310509Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_D_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_D_patient_1.json new file mode 100644 index 000000000..5edd98421 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_D_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "brachydactyly,_type_d", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009642", + "label": "Broad distal phalanx of the thumb" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:113200", + "label": "Brachydactyly, type D" + } + } + ], + "metaData": { + "created": "2024-06-12T01:24:04.100326Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_E2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_E2_patient_1.json new file mode 100644 index 000000000..2a0f7ea81 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_E2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "brachydactyly,_type_e2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010743", + "label": "Short metatarsal" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613382", + "label": "Brachydactyly, type E2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:51:49.560387Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_E_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_E_patient_1.json new file mode 100644 index 000000000..d0bf95f96 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachydactyly_type_E_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "brachydactyly,_type_e", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000311", + "label": "Round face" + } + }, + { + "type": { + "id": "HP:0006587", + "label": "Straight clavicles" + } + }, + { + "type": { + "id": "HP:0008848", + "label": "Moderately short stature" + } + }, + { + "type": { + "id": "HP:0001571", + "label": "Multiple impacted teeth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:113300", + "label": "Brachydactyly, type E" + } + } + ], + "metaData": { + "created": "2024-06-11T21:52:02.731315Z", + "createdBy": "phenotype2phenopacket", + "resources": [ 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"brachydactyly,_type_e,_with_atrial_septal_defect,_type_ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal defect" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:113301", + "label": "Brachydactyly, type e, with atrial septal defect, type II" + } + } + ], + "metaData": { + "created": "2024-06-11T22:13:43.959111Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachymorphism_Onychodysplasia_Dysphalangism_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachymorphism_Onychodysplasia_Dysphalangism_syndrome_patient_1.json new file mode 100644 index 000000000..153f5958a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachymorphism_Onychodysplasia_Dysphalangism_syndrome_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "brachymorphism-onychodysplasia-dysphalangism_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010959", + "label": "Congenital pulmonary airway malformation" + } + }, + { + "type": { + "id": "HP:0000307", + "label": "Pointed chin" + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:113477", + "label": "Brachymorphism-Onychodysplasia-Dysphalangism syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:27:18.780114Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachyolmia_4_with_mild_epiphyseal_and_metaphyseal_changes_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachyolmia_4_with_mild_epiphyseal_and_metaphyseal_changes_patient_1.json new file mode 100644 index 000000000..ef2c88c61 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachyolmia_4_with_mild_epiphyseal_and_metaphyseal_changes_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "brachyolmia_4_with_mild_epiphyseal_and_metaphyseal_changes", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000869", + "label": "Secondary amenorrhea" + } + }, + { + "type": { + "id": "HP:0002751", + "label": "Kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0001007", + "label": "Hirsutism" + } + }, + { + "type": { + "id": "HP:0012411", + "label": "Premature pubarche" + } + }, + { + "type": { + "id": "HP:0002979", + "label": "Bowing of the legs" + } + }, + { + "type": { + "id": "HP:0001061", + "label": "Acne" + } + }, + { + "type": { + "id": "HP:0003301", + "label": "Irregular vertebral endplates" + } + }, + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0004619", + "label": "Lumbar kyphoscoliosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612847", + "label": "Brachyolmia 4 with mild epiphyseal and metaphyseal changes" + } + } + ], + "metaData": { + "created": "2024-06-11T20:23:13.086968Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachyolmia_type_1_Hobaek_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachyolmia_type_1_Hobaek_type_patient_1.json new file mode 100644 index 000000000..588a7269b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachyolmia_type_1_Hobaek_type_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "brachyolmia_type_1,_hobaek_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000926", + "label": "Platyspondyly" + } + }, + { + "type": { + "id": "HP:0000768", + "label": "Pectus carinatum" + } + }, + { + "type": { + "id": "HP:0100866", + "label": "Short iliac bones" + } + }, + { + "type": { + "id": "HP:0003026", + "label": "Short long bone" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0003521", + "label": "Disproportionate short-trunk short stature" + } + }, + { + "type": { + "id": "HP:0008418", + "label": "Squared-off platyspondyly" + } + }, + { + "type": { + "id": "HP:0012772", + "label": "Abnormal upper to lower segment ratio" + } + }, + { + "type": { + "id": "HP:0004349", + "label": "Reduced bone mineral density" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0004622", + "label": "Progressive intervertebral space narrowing" + } + }, + { + "type": { + "id": "HP:0025668", + "label": "Abnormal neck morphology" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:271530", + "label": "Brachyolmia type 1, Hobaek type" + } + } + ], + "metaData": { + "created": "2024-06-11T20:11:47.117502Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": 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mound of bone in central and posterior portions of vertebral endplate" + } + }, + { + "type": { + "id": "HP:0100864", + "label": "Short femoral neck" + } + }, + { + "type": { + "id": "HP:0000531", + "label": "Corneal crystals" + } + }, + { + "type": { + "id": "HP:0002938", + "label": "Lumbar hyperlordosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:271630", + "label": "Brachyolmia type 1, Toledo type" + } + } + ], + "metaData": { + "created": "2024-06-11T18:14:41.138499Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachyolmia_type_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachyolmia_type_2_patient_1.json new file mode 100644 index 000000000..ed7b13836 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachyolmia_type_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "brachyolmia_type_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613678", + "label": "Brachyolmia type 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:08:09.713135Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachyolmia_type_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachyolmia_type_3_patient_1.json new file mode 100644 index 000000000..971a58552 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brachyolmia_type_3_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "brachyolmia_type_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030084", + "label": "Clinodactyly" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": 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"id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0002869", + "label": "Flared iliac wing" + } + }, + { + "type": { + "id": "HP:0006507", + "label": "Aplasia/hypoplasia of the humerus" + } + }, + { + "type": { + "id": "HP:0002697", + "label": "Parietal foramina" + } + }, + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal defect" + } + }, + { + "type": { + "id": "HP:0006380", + "label": "Knee flexion contracture" + } + }, + { + "type": { + "id": "HP:0011344", + "label": "Severe global developmental delay" + } + }, + { + "type": { + "id": "HP:0000811", + "label": "Abnormal external genitalia" + } + }, + { + "type": { + "id": "HP:0009756", + "label": "Popliteal pterygium" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0007687", + "label": "Unilateral ptosis" + } + }, + { + "type": { + "id": "HP:0000765", + "label": "Abnormal thorax morphology" + } + }, + { + "type": { + "id": "HP:0000032", + "label": "Abnormal male external genitalia morphology" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609945", + "label": "Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:18:14.804457Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Braddock_Carey_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Braddock_Carey_syndrome_1_patient_1.json new file mode 100644 index 000000000..b57d3484f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Braddock_Carey_syndrome_1_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "braddock-carey_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000298", + "label": "Mask-like facies" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0012385", + "label": "Camptodactyly" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0005927", + "label": "Aplasia/hypoplasia involving bones of the hand" + } + }, + { + "type": { + "id": 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Braddock_Carey_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Braddock_Carey_syndrome_2_patient_1.json new file mode 100644 index 000000000..b5ee59e3d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Braddock_Carey_syndrome_2_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "braddock-carey_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030084", + "label": "Clinodactyly" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0001973", + "label": "Autoimmune thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0005548", + "label": "Megakaryocytopenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619981", + "label": "Braddock-Carey syndrome 2" + } + } + ], + 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"bradyopsia_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032037", + "label": "Mildly reduced visual acuity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620344", + "label": "Bradyopsia 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:37.705700Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git 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"id": "HP:0002011", + "label": "Morphological central nervous system abnormality" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:0003472", + "label": "Hypocalcemic tetany" + } + }, + { + "type": { + "id": "HP:5200001", + "label": "Selective mutism" + } + }, + { + "type": { + "id": "HP:0004026", + "label": "Broad radial metaphysis" + } + }, + { + "type": { + "id": "HP:0007024", + "label": "Pseudobulbar paralysis" + } + }, + { + "type": { + "id": "HP:0025711", + "label": "Convergence-retraction nystagmus" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618476", + "label": "Brain abnormalities, neurodegeneration, and dysosteosclerosis" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:53.500890Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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file mode 100644 index 000000000..f33afebf3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brain_small_vessel_disease_3_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "brain_small_vessel_disease_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002514", + "label": "Cerebral calcification" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0002059", + "label": "Cerebral atrophy" + } + }, + { + "type": { + "id": "HP:0006980", + "label": "Progressive leukoencephalopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618360", + "label": "Brain small vessel disease 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:54:02.807005Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614923", + "label": "Branched-Chain ketoacid dehydrogenase kinase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T17:55:06.966038Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Branchial_arch_abnormalities_choanal_atresia_athelia_hearing_loss_and_hypothyroidism_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Branchial_arch_abnormalities_choanal_atresia_athelia_hearing_loss_and_hypothyroidism_syndrome_patient_1.json new file mode 100644 index 000000000..aa5bdbb7b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Branchial_arch_abnormalities_choanal_atresia_athelia_hearing_loss_and_hypothyroidism_syndrome_patient_1.json @@ -0,0 +1,225 @@ +{ + "id": "branchial_arch_abnormalities,_choanal_atresia,_athelia,_hearing_loss,_and_hypothyroidism_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000612", + "label": "Iris coloboma" + } + }, + { + "type": { + "id": "HP:0010628", + "label": "Facial palsy" + } + }, + { + "type": { + "id": "HP:0008513", + "label": "Bilateral conductive hearing impairment" + } + }, 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+ }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0001642", + "label": "Pulmonic stenosis" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301950", + "label": "Branchial arch syndrome, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T20:38:31.769922Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Branchial_cleft_anomaliesbranchial_cysts_included_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Branchial_cleft_anomaliesbranchial_cysts_included_patient_1.json new file mode 100644 index 000000000..47c7cb181 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Branchial_cleft_anomaliesbranchial_cysts_included_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "branchial_cleft_anomaliesbranchial_cysts,_included", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000464", + "label": "Abnormality of the neck" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:113600", + "label": "Branchial cleft anomaliesbranchial cysts, included" + } + } + ], + "metaData": { + "created": "2024-06-11T23:03:01.932485Z", + "createdBy": 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"branchiogenic-deafness_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000211", + "label": "Trismus" + } + }, + { + "type": { + "id": "HP:0004452", + "label": "Abnormality of the middle ear ossicles" + } + }, + { + "type": { + "id": "HP:0009882", + "label": "Short distal phalanx of finger" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0009796", + "label": "Branchial cyst" + } + }, + { + "type": { + "id": "HP:0009795", + "label": "Branchial fistula" + } + }, + { + "type": { + "id": "HP:0000410", + "label": "Mixed hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609166", + "label": "Branchiogenic-deafness syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:41:06.713824Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Branchiooculofacial_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Branchiooculofacial_syndrome_patient_1.json new file mode 100644 index 000000000..0100187e3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Branchiooculofacial_syndrome_patient_1.json @@ -0,0 +1,159 @@ +{ + "id": "branchiooculofacial_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0004334", + "label": "Dermal atrophy" + } + }, + { + "type": { + "id": "HP:0000104", + "label": "Renal agenesis" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0001611", + "label": "Hypernasal speech" + } + }, + { + "type": { + "id": "HP:0008897", + "label": "Postnatal growth retardation" + } + }, + { + "type": { + "id": "HP:0000405", + "label": "Conductive hearing impairment" + } + }, + { + "type": { + "id": "HP:0000163", + "label": "Abnormal oral cavity morphology" + } + }, + { + "type": { + "id": "HP:0100837", + "label": "Atrophodermia vermiculata" + } + }, + { + "type": { + "id": "HP:0007678", + "label": "Lacrimal duct stenosis" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0025247", + "label": "Dermoid cyst" + } + }, + { + "type": { + "id": "HP:0000164", + "label": "Abnormality of the dentition" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0012373", + "label": "Abnormal eye physiology" + } + }, + { + "type": { + "id": "HP:0100240", + "label": "Synostosis of joints" + } + }, + { + "type": { + "id": "HP:0005101", + "label": "High-frequency hearing impairment" + } + }, + { + "type": { + "id": "HP:0007633", + "label": "Bilateral microphthalmos" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:113620", + "label": "Branchiooculofacial syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T17:45:31.476366Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", 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} + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + } + }, + { + "type": { + "id": "HP:0000357", + "label": "Abnormal location of ears" + } + }, + { + "type": { + "id": "HP:0100276", + "label": "Skin pit" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602588", + "label": "Branchiootic syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:02:14.740908Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Branchiootic_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Branchiootic_syndrome_2_patient_1.json new file mode 100644 index 000000000..3f727e2e5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Branchiootic_syndrome_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "branchiootic_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:120502", + "label": "Branchiootic syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:20:36.138905Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Branchiootorenal_syndrome_1_patient_1.json new file mode 100644 index 000000000..12b161353 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Branchiootorenal_syndrome_1_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "branchiootorenal_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000275", + "label": "Narrow face" + } + }, + { + "type": { + "id": "HP:0007678", + "label": "Lacrimal duct stenosis" + } + }, + { + "type": { + "id": "HP:0004458", + "label": "Dilatated internal auditory canal" + } + }, + { + "type": { + "id": "HP:0025033", + "label": "Abnormal digestive system morphology" + } + }, + { + "type": { + "id": "HP:0000378", + "label": "Cupped ear" + } + }, + { + "type": { + "id": "HP:0025668", + "label": "Abnormal neck morphology" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Branchiootorenal_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Branchiootorenal_syndrome_2_patient_1.json new file mode 100644 index 000000000..f7443cf20 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Branchiootorenal_syndrome_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "branchiootorenal_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + }, + { + "type": { + "id": "HP:0012211", + "label": "Abnormal renal physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610896", + "label": "Branchiootorenal syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:42:44.525738Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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"type": { + "id": "HP:0003002", + "label": "Breast carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604370", + "label": "Breast-Ovarian cancer, familial, susceptibility to, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:11:59.282393Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Breast_Ovarian_cancer_familial_susceptibility_to_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Breast_Ovarian_cancer_familial_susceptibility_to_2_patient_1.json new file mode 100644 index 000000000..f675afc02 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Breast_Ovarian_cancer_familial_susceptibility_to_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "breast-ovarian_cancer,_familial,_susceptibility_to,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100615", + "label": "Ovarian neoplasm" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612555", + "label": "Breast-Ovarian cancer, familial, susceptibility to, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:54:43.999296Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Breast_cancer_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Breast_cancer_patient_1.json new file mode 100644 index 000000000..5ee096fcf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Breast_cancer_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "breast_cancer", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003002", + "label": "Breast carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:114480", + "label": "Breast cancer" + } + } + ], + "metaData": { + "created": "2024-06-11T21:47:42.245679Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Breast_ovarian_cancer_familial_susceptibility_to_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Breast_ovarian_cancer_familial_susceptibility_to_5_patient_1.json new file mode 100644 index 000000000..f4fceff0e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Breast_ovarian_cancer_familial_susceptibility_to_5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "breast-ovarian_cancer,_familial,_susceptibility_to,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003002", + "label": "Breast carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620442", + "label": "Breast-ovarian cancer, familial, susceptibility to, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T22:54:36.075728Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Breast_unilateral_giant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Breast_unilateral_giant_patient_1.json new file mode 100644 index 000000000..a6787baae --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Breast_unilateral_giant_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "breast,_unilateral_giant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000765", + "label": "Abnormal thorax morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:113670", + "label": "Breast, unilateral giant" + } + } + ], + "metaData": { + "created": "2024-06-11T21:55:16.820660Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Breasts_and_or_nipples_aplasia_or_hypoplasia_of_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Breasts_and_or_nipples_aplasia_or_hypoplasia_of_1_patient_1.json new file mode 100644 index 000000000..edb48b031 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Breasts_and_or_nipples_aplasia_or_hypoplasia_of_1_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "breasts_and/or_nipples,_aplasia_or_hypoplasia_of,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002561", + "label": "Absent nipple" + } + }, + { + "type": { + "id": "HP:0010311", + "label": "Aplasia/Hypoplasia of the breasts" + } + }, + { + "type": { + "id": "HP:0002557", + "label": "Hypoplastic nipples" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:113700", + "label": "Breasts and/or nipples, aplasia or hypoplasia of, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:42:58.734380Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Breasts_and_or_nipples_aplasia_or_hypoplasia_of_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Breasts_and_or_nipples_aplasia_or_hypoplasia_of_2_patient_1.json new file mode 100644 index 000000000..40f2db9e9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Breasts_and_or_nipples_aplasia_or_hypoplasia_of_2_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "breasts_and/or_nipples,_aplasia_or_hypoplasia_of,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002561", + "label": "Absent nipple" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0002553", + "label": "Highly arched eyebrow" + } + }, + { + "type": { + "id": "HP:0007598", + "label": "Bilateral single transverse palmar creases" + } + }, + { + "type": { + "id": "HP:0100853", + "label": "Hypoplastic areola" + } + }, + { + "type": { + "id": "HP:0012741", + "label": "Unilateral cryptorchidism" + } + }, + { + "type": { + "id": "HP:0031093", + "label": "Abnormal breast morphology" + } + }, + { + "type": { + "id": "HP:0000455", + "label": "Broad nasal tip" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616001", + "label": "Breasts and/or nipples, aplasia or hypoplasia of, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:41:13.763745Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Breath_Holding_spells_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Breath_Holding_spells_patient_1.json new file mode 100644 index 000000000..72bbea512 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Breath_Holding_spells_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "breath-holding_spells", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000961", + "label": "Cyanosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607578", + "label": "Breath-Holding spells" + } + } + ], + "metaData": { + "created": "2024-06-11T18:25:21.583153Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brittle_cornea_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brittle_cornea_syndrome_2_patient_1.json new file mode 100644 index 000000000..36b2de7e3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brittle_cornea_syndrome_2_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "brittle_cornea_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100689", + "label": "Decreased corneal thickness" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0001119", + "label": "Keratoglobus" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0000591", + "label": "Abnormal sclera morphology" + } + }, + { + "type": { + "id": "HP:0002761", + "label": "Generalized joint hypermobility" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0003738", + "label": "Exercise-induced myalgia" + } + }, + { + "type": { + "id": "HP:0000563", + "label": "Keratoconus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614170", + "label": "Brittle cornea syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:41:07.523460Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + 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"Scoliosis" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0001119", + "label": "Keratoglobus" + } + }, + { + "type": { + "id": "HP:0007517", + "label": "Palmoplantar cutis laxa" + } + }, + { + "type": { + "id": "HP:0001075", + "label": "Atrophic scars" + } + }, + { + "type": { + "id": "HP:0000694", + "label": "Odontodysplasia" + } + }, + { + "type": { + "id": "HP:0000592", + "label": "Blue sclerae" + } + }, + { + "type": { + "id": "HP:0004328", + "label": "Abnormal anterior eye segment morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:229200", + "label": "Brittle cornea syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:42:14.359522Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Broad_terminal_phalanges_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Broad_terminal_phalanges_familial_patient_1.json new file mode 100644 index 000000000..7a29c700c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Broad_terminal_phalanges_familial_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "broad_terminal_phalanges,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009836", + "label": "Broad distal phalanx of finger" + } + } + ], + "diseases": [ + { + "term": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brody_myopathy_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "brody_myopathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002047", + "label": "Malignant hyperthermia" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0008967", + "label": "Exercise-induced muscle stiffness" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601003", + "label": "Brody myopathy" + } + } + ], + "metaData": { + "created": "2024-06-11T21:46:31.813527Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bronchiectasis_with_or_without_elevated_sweat_chloride_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bronchiectasis_with_or_without_elevated_sweat_chloride_1_patient_1.json new file mode 100644 index 000000000..d30236b26 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bronchiectasis_with_or_without_elevated_sweat_chloride_1_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "bronchiectasis_with_or_without_elevated_sweat_chloride_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0004469", + "label": "Chronic bronchitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:211400", + "label": "Bronchiectasis with or without elevated sweat chloride 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:59:43.493373Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bronchiectasis_with_or_without_elevated_sweat_chloride_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bronchiectasis_with_or_without_elevated_sweat_chloride_2_patient_1.json new file mode 100644 index 000000000..2bbf6b80f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bronchiectasis_with_or_without_elevated_sweat_chloride_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "bronchiectasis_with_or_without_elevated_sweat_chloride_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012236", + "label": "Elevated sweat chloride" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613021", + "label": "Bronchiectasis with or without elevated sweat chloride 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:36:55.743115Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bronchiectasis_with_or_without_elevated_sweat_chloride_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bronchiectasis_with_or_without_elevated_sweat_chloride_3_patient_1.json new file mode 100644 index 000000000..e7ed9ee16 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bronchiectasis_with_or_without_elevated_sweat_chloride_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "bronchiectasis_with_or_without_elevated_sweat_chloride_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004469", + "label": "Chronic bronchitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613071", + "label": "Bronchiectasis with or without elevated sweat chloride 3" + } + } + ], + "metaData": { + "created": "2024-06-11T23:45:01.160463Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Brooke_Spiegler_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brooke_Spiegler_syndrome_patient_1.json new file mode 100644 index 000000000..ee48ee732 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Brooke_Spiegler_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "brooke-spiegler_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002664", + "label": "Neoplasm" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605041", + "label": "Brooke-Spiegler syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:40:18.678680Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bruck_syndrome_1_patient_1.json @@ -0,0 +1,147 @@ +{ + "id": "bruck_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0003179", + "label": "Protrusio acetabuli" + } + }, + { + "type": { + "id": "HP:0001384", + "label": "Abnormal hip joint morphology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0001371", + "label": "Flexion contracture" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0002823", + "label": "Abnormal femur morphology" + } + }, + { + "type": { + "id": "HP:0003023", + "label": "Bowing of limbs due to multiple fractures" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + 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[ + { + "type": { + "id": "HP:0002639", + "label": "Budd-Chiari syndrome" + } + }, + { + "type": { + "id": "HP:0001402", + "label": "Hepatocellular carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600880", + "label": "Budd-Chiari syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:11:53.646212Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Buerger_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Buerger_disease_patient_1.json new file mode 100644 index 000000000..dfe67f106 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Buerger_disease_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "buerger_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009763", + "label": "Limb pain" + } + }, + { + "type": { + "id": "HP:0012531", + "label": "Pain" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:211480", + "label": "Buerger disease" + } + } + ], + "metaData": { + "created": "2024-06-11T23:20:17.518668Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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"label": "Short finger" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0002187", + "label": "Intellectual disability, profound" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:302000", + "label": "Bullous dystrophy, hereditary Macular type" + } + } + ], + "metaData": { + "created": "2024-06-12T00:31:01.807973Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Bundle_branch_block_familial_isolated_complete_right_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bundle_branch_block_familial_isolated_complete_right_patient_1.json new file mode 100644 index 000000000..a6a01ad91 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Bundle_branch_block_familial_isolated_complete_right_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "bundle_branch_block,_familial_isolated_complete_right", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011712", + "label": "Right bundle branch block" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:113950", + "label": "Bundle branch block, familial isolated complete right" + } + } + ], + "metaData": { + "created": "2024-06-11T23:21:18.114313Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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+ ], + "metaData": { + "created": "2024-06-11T18:15:54.019403Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Burn_Mckeown_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Burn_Mckeown_syndrome_patient_1.json new file mode 100644 index 000000000..828b9a743 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Burn_Mckeown_syndrome_patient_1.json @@ 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+ "type": { + "id": "HP:0000384", + "label": "Preauricular skin tag" + } + }, + { + "type": { + "id": "HP:0200007", + "label": "Abnormal size of the palpebral fissures" + } + }, + { + "type": { + "id": "HP:0000322", + "label": "Short philtrum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608572", + "label": "Burn-Mckeown syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:13:18.356799Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Buschke_Ollendorff_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Buschke_Ollendorff_syndrome_patient_1.json new file mode 100644 index 000000000..13661d286 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Buschke_Ollendorff_syndrome_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "buschke-ollendorff_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001387", + "label": "Joint stiffness" + } + }, + { + "type": { + "id": "HP:0003764", + "label": "Nevus" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0010739", + "label": "Osteopoikilosis" + } + }, + { + "type": { + "id": "HP:0100898", + "label": "Connective tissue nevi" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:166700", + "label": "Buschke-Ollendorff syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:56:50.983009Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Butyrylcholinesterase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Butyrylcholinesterase_deficiency_patient_1.json new file mode 100644 index 000000000..206d33853 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Butyrylcholinesterase_deficiency_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "butyrylcholinesterase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002104", + "label": "Apnea" + }, + "modifiers": [ + { + "id": "HP:0034195", + "label": "Triggered by muscle relaxant" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617936", + "label": "Butyrylcholinesterase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T21:59:03.684564Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/C1q_deficiency_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/C1q_deficiency_2_patient_1.json new file mode 100644 index 000000000..76e25e731 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/C1q_deficiency_2_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "c1q_deficiency_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002829", + "label": "Arthralgia" + } + }, + { + "type": { + "id": "HP:0003565", + "label": "Elevated erythrocyte sedimentation rate" + } + }, + { + "type": { + "id": "HP:0003493", + "label": "Antinuclear antibody positivity" + } + }, + { + "type": { + "id": "HP:0033040", + "label": "Anti-Sm antibody positivity" + } + }, + { + "type": { + "id": "HP:0033399", + "label": 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000000000..8d75c95bf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/C1q_deficiency_3_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "c1q_deficiency_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007274", + "label": "Recurrent bacterial meningitis" + } + }, + { + "type": { + "id": "HP:0003493", + "label": "Antinuclear antibody positivity" + } + }, + { + "type": { + "id": "HP:0034601", + "label": "Decreased circulating C1q concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620322", + "label": "C1q deficiency 3" + } + } + ], + "metaData": { + "created": "2024-06-11T23:43:06.129377Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/CARNOSINEMIA_patient_1.json new file mode 100644 index 000000000..5f536fcf4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/CARNOSINEMIA_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "carnosinemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003167", + "label": "Carnosinuria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:212200", + "label": "CARNOSINEMIA" + } + } + ], + "metaData": { + "created": "2024-06-11T23:24:49.133062Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/CDAGS_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/CDAGS_syndrome_patient_1.json new file mode 100644 index 000000000..8e9fbc8f7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/CDAGS_syndrome_patient_1.json @@ -0,0 +1,147 @@ +{ + "id": "cdags_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002697", + "label": "Parietal foramina" + } + }, + { + "type": { + "id": "HP:0000653", + "label": "Sparse eyelashes" + } + }, + { + "type": { + "id": "HP:0000047", + "label": "Hypospadias" + } + }, + { + "type": { + "id": "HP:0000248", + "label": "Brachycephaly" + } + }, + { + "type": { + "id": "HP:0002023", + "label": "Anal atresia" + } + }, + { + "type": { + "id": 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100644 index 000000000..d51129e70 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/CEBALID_syndrome_patient_1.json @@ -0,0 +1,152 @@ +{ + "id": "cebalid_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0002126", + "label": "Polymicrogyria" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0002167", + "label": "Abnormality of speech or vocalization" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0011344", + "label": "Severe global developmental delay" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } 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"label": "Skeletal dysplasia" + } + }, + { + "type": { + "id": "HP:0010445", + "label": "Primum atrial septal defect" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0007911", + "label": "Congenital bilateral ptosis" + } + }, + { + "type": { + "id": "HP:0002751", + "label": "Kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0100531", + "label": "Wind-swept deformity of the knees" + } + }, + { + "type": { + "id": "HP:0008573", + "label": "Low-frequency sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0010047", + "label": "Short 5th metacarpal" + } + }, + { + "type": { + "id": "HP:0003808", + "label": "Abnormal muscle tone" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600373", + "label": "CODAS syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:37:04.122020Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/CYSTATHIONINURIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/CYSTATHIONINURIA_patient_1.json new file mode 100644 index 000000000..a9b3f1fd0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/CYSTATHIONINURIA_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cystathioninuria", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003153", + "label": "Cystathioninuria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:219500", + "label": "CYSTATHIONINURIA" + } + } + ], + "metaData": { + "created": "2024-06-11T20:31:46.923835Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/C_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/C_syndrome_patient_1.json new file mode 100644 index 000000000..e502ba16a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/C_syndrome_patient_1.json @@ -0,0 +1,171 @@ +{ + "id": "c_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0000973", + "label": "Cutis laxa" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000154", + "label": "Wide mouth" + } + }, + { + "type": { + "id": "HP:0000286", + "label": "Epicanthus" + } + }, + { + "type": { + "id": "HP:0001830", + "label": "Postaxial foot polydactyly" + } + }, + { + "type": { + "id": "HP:0001643", + "label": "Patent ductus arteriosus" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0009826", + "label": "Limb undergrowth" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0009484", + "label": "Deviation of the hand or of fingers of the hand" + } + }, + { + "type": { + "id": "HP:0003196", + "label": "Short nose" + } + }, + { + "type": { + "id": "HP:0410042", + "label": "Abnormal liver morphology" + } + }, + { + "type": { + "id": "HP:0008866", + "label": "Failure to thrive secondary to recurrent infections" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0000032", + "label": "Abnormal male external genitalia morphology" + } + }, + { + "type": { + "id": "HP:0200083", + "label": "Severe limb shortening" + } + }, + { + "type": { + "id": "HP:0010715", + "label": "2-5 toe syndactyly" + } + }, + { + "type": { + "id": "HP:0010442", + "label": "Polydactyly" + } + }, + { + "type": { + "id": "HP:0005084", + "label": "Anterior radial head dislocation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:211750", + "label": "C syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:35:21.940010Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Caffey_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Caffey_disease_patient_1.json new file mode 100644 index 000000000..1f59db7c6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Caffey_disease_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "caffey_disease", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031485", + "label": "Subperiosteal bone formation" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:114000", + "label": "Caffey disease" + } + } + ], + "metaData": { + "created": "2024-06-11T18:49:42.336828Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cahmr_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cahmr_syndrome_patient_1.json new file mode 100644 index 000000000..4926f7bd2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cahmr_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cahmr_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007971", + "label": "Lamellar cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:211770", + "label": "Cahmr syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:44:30.447135Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Calcific_aortic_disease_with_immunologic_abnormalities_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Calcific_aortic_disease_with_immunologic_abnormalities_familial_patient_1.json new file mode 100644 index 000000000..5fb7c6190 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Calcific_aortic_disease_with_immunologic_abnormalities_familial_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "calcific_aortic_disease_with_immunologic_abnormalities,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001650", + "label": "Aortic valve stenosis" + } + }, + { + "type": { + "id": "HP:0004380", + "label": "Aortic valve calcification" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:114065", + "label": "Calcific aortic disease with immunologic abnormalities, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T19:38:44.493036Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Calcification_of_joints_and_arteries_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Calcification_of_joints_and_arteries_patient_1.json new file mode 100644 index 000000000..7a53858a0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Calcification_of_joints_and_arteries_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "calcification_of_joints_and_arteries", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031303", + "label": "Femoral arterial calcification" + } + }, + { + "type": { + "id": "HP:0005645", + "label": "Intervertebral disk calcification" + } + }, + { + "type": { + "id": "HP:0011988", + "label": "Ectopic ossification in tendon tissue" + } + }, + { + "type": { + "id": "HP:0031304", + "label": "Iliac arterial calcification" + } + }, + { + "type": { + "id": "HP:0025323", + "label": "Abnormal arterial physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:211800", + "label": "Calcification of joints and arteries" + } + } + ], + "metaData": { + "created": "2024-06-11T22:07:14.661082Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Callosities_hereditary_painful_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Callosities_hereditary_painful_patient_1.json new file mode 100644 index 000000000..915597958 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Callosities_hereditary_painful_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "callosities,_hereditary_painful", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000951", + "label": "Abnormality of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:114140", + "label": "Callosities, hereditary painful" + } + } + ], + "metaData": { + "created": "2024-06-11T23:32:22.398360Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Calvarial_doughnut_lesions_with_bone_fragility_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Calvarial_doughnut_lesions_with_bone_fragility_patient_1.json new file mode 100644 index 000000000..69743305d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Calvarial_doughnut_lesions_with_bone_fragility_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "calvarial_doughnut_lesions_with_bone_fragility", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011844", + "label": "Abnormal appendicular skeleton morphology" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0000670", + "label": "Carious teeth" + } + }, + { + "type": { + "id": "HP:0003155", + "label": "Elevated circulating alkaline phosphatase concentration" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:126550", + "label": "Calvarial doughnut lesions with bone fragility" + } + } + ], + "metaData": { + "created": "2024-06-11T21:14:37.342733Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Calvarial_hyperostosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Calvarial_hyperostosis_patient_1.json new file mode 100644 index 000000000..3ec0a9525 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Calvarial_hyperostosis_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "calvarial_hyperostosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0034975", + "label": "Occipital horn" + } + }, + { + "type": { + "id": "HP:0004490", + "label": "Calvarial hyperostosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:302030", + "label": "Calvarial hyperostosis" + } + } + ], + "metaData": { + "created": "2024-06-11T17:48:30.160534Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Campomelia_Cumming_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Campomelia_Cumming_type_patient_1.json new file mode 100644 index 000000000..7358e7a82 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Campomelia_Cumming_type_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "campomelia,_cumming_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001737", + "label": "Pancreatic cysts" + } + }, + { + "type": { + "id": "HP:0006487", + "label": "Bowing of the long bones" + } + }, + { + "type": { + "id": "HP:0410042", + "label": "Abnormal liver morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:211890", + "label": "Campomelia, Cumming type" + } + } + ], + "metaData": { + "created": "2024-06-11T18:24:05.684750Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Campomelic_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Campomelic_dysplasia_patient_1.json new file mode 100644 index 000000000..6fd7dfd24 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Campomelic_dysplasia_patient_1.json @@ -0,0 +1,339 @@ +{ + "id": "campomelic_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0000670", + "label": "Carious teeth" + } + }, + { + "type": { + "id": "HP:0001763", + "label": "Pes planus" + } + }, + { + "type": { + "id": "HP:0000047", + "label": "Hypospadias" + } + }, + { + "type": { + "id": "HP:0002104", + "label": "Apnea" + } + }, + { + "type": { + "id": "HP:0002779", + "label": "Tracheomalacia" + } + }, + { + "type": { + "id": "HP:0003026", + "label": "Short long bone" + } + }, + { + "type": { + "id": "HP:0002947", + "label": "Cervical kyphosis" + } + }, + { + "type": { + "id": "HP:0010646", + "label": "Cervical spine instability" + } + }, + { + "type": { + "id": "HP:0002643", + "label": "Neonatal respiratory distress" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0000405", + "label": "Conductive hearing impairment" + } + }, + { + "type": { + "id": "HP:0010307", + "label": "Stridor" + } + }, + { + "type": { + "id": "HP:0001776", + "label": "Bilateral talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0006487", + "label": "Bowing of the long bones" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0002982", + "label": "Tibial bowing" + } + }, + { + "type": { + "id": "HP:0002868", + "label": "Narrow iliac wing" + } + }, + { + "type": { + "id": "HP:0032538", + "label": "Pretibial dimple" + } + }, + { + "type": { + "id": "HP:0004482", + "label": "Relative macrocephaly" + } + }, + { + "type": { + "id": "HP:0009697", + "label": "Contracture of the distal interphalangeal joint of the fingers" + } + }, + { + "type": { + "id": "HP:0000882", + "label": "Hypoplastic scapulae" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0001799", + "label": "Short nail" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0011342", + "label": "Mild global developmental delay" + } + }, + { + "type": { + "id": "HP:0010034", + "label": "Short 1st metacarpal" + } + }, + { + "type": { + "id": "HP:0000176", + "label": "Submucous cleft hard palate" + } + }, + { + "type": { + "id": "HP:0002663", + "label": "Delayed epiphyseal 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global developmental delay" + } + }, + { + "type": { + "id": "HP:0012381", + "label": "Delayed self-feeding during toddler years" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0012758", + "label": "Neurodevelopmental delay" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0005856", + "label": "Ulnar radial head dislocation" + } + }, + { + "type": { + "id": "HP:0011975", + "label": "Aminoglycoside-induced hearing loss" + } + }, + { + "type": { + "id": "HP:0000357", + "label": "Abnormal location of ears" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:114290", + "label": "Campomelic dysplasia" + } + } + ], + "metaData": { + "created": 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"subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100490", + "label": "Camptodactyly of finger" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:114200", + "label": "Camptodactyly 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:06:37.802461Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Camptodactyly_Arthropathy_Coxa_vara_pericarditis_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Camptodactyly_Arthropathy_Coxa_vara_pericarditis_syndrome_patient_1.json new file mode 100644 index 000000000..2e34c5a06 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Camptodactyly_Arthropathy_Coxa_vara_pericarditis_syndrome_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "camptodactyly-arthropathy-coxa_vara-pericarditis_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003040", + "label": "Arthropathy" + } + }, + { + "type": { + "id": "HP:0002563", + "label": "Constrictive pericarditis" + } + }, + { + "type": { + "id": "HP:0001369", + "label": "Arthritis" + } + }, + { + "type": { + "id": "HP:0001376", + "label": "Limitation of joint mobility" + } + }, + { + "type": { + "id": "HP:0002812", + "label": "Coxa vara" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:208250", + "label": "Camptodactyly-Arthropathy-Coxa vara-pericarditis syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:13:20.518612Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Camptodactyly_syndrome_Guadalajara_type_III_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Camptodactyly_syndrome_Guadalajara_type_III_patient_1.json new file mode 100644 index 000000000..a250d3109 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Camptodactyly_syndrome_Guadalajara_type_III_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "camptodactyly_syndrome,_guadalajara,_type_iii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012385", + "label": "Camptodactyly" + } + }, + { + "type": { + "id": "HP:0000054", + "label": "Micropenis" + } + }, + { + "type": { + "id": "HP:0003298", + "label": "Spina bifida occulta" + } + }, + { + "type": { + "id": "HP:0000473", + "label": "Torticollis" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0000278", + "label": "Retrognathia" + } + }, + { + "type": { + "id": "HP:0000272", + "label": "Malar flattening" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0430007", + "label": "Symblepharon" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0006852", + "label": "Episodic generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + }, + { + "type": { + "id": "HP:0003799", + "label": "Marked delay in bone age" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611929", + "label": "Camptodactyly syndrome, Guadalajara, type III" + } + } + ], + "metaData": { + "created": "2024-06-11T18:34:33.299616Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Camptodactyly_tall_stature_and_hearing_loss_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Camptodactyly_tall_stature_and_hearing_loss_syndrome_patient_1.json new file mode 100644 index 000000000..0e49b753f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Camptodactyly_tall_stature_and_hearing_loss_syndrome_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "camptodactyly,_tall_stature,_and_hearing_loss_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0001166", + "label": "Arachnodactyly" + } + }, + { + "type": { + "id": "HP:0011343", + "label": "Moderate global developmental delay" + } + }, + { + "type": { + "id": "HP:0000766", + "label": "Abnormal sternum morphology" + } + }, + { + "type": { + "id": "HP:0100261", + "label": "Abnormal tendon morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610474", + "label": "Camptodactyly, tall stature, and hearing loss syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:45:05.182402Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Camptodactyly_with_muscular_hypoplasia_skeletal_dysplasia_and_abnormalpalmar_creases_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Camptodactyly_with_muscular_hypoplasia_skeletal_dysplasia_and_abnormalpalmar_creases_patient_1.json new file mode 100644 index 000000000..a0218fb56 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Camptodactyly_with_muscular_hypoplasia_skeletal_dysplasia_and_abnormalpalmar_creases_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "camptodactyly_with_muscular_hypoplasia,_skeletal_dysplasia,_and_abnormalpalmar_creases", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001634", + "label": "Mitral valve prolapse" + } + }, + { + "type": { + "id": "HP:0010487", + "label": "Small hypothenar eminence" + } + }, + { + "type": { + "id": "HP:0001245", + "label": "Small thenar eminence" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:211960", + "label": "Camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormalpalmar creases" + } + } + ], + "metaData": { + "created": "2024-06-11T22:10:24.005058Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Camptomelic_syndrome_Long_Limb_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Camptomelic_syndrome_Long_Limb_type_patient_1.json new file mode 100644 index 000000000..83eaee306 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Camptomelic_syndrome_Long_Limb_type_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "camptomelic_syndrome,_long-limb_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006487", + "label": "Bowing of the long bones" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:211990", + "label": "Camptomelic syndrome, Long-Limb type" + } + } + ], + "metaData": { + "created": "2024-06-11T19:40:50.586776Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Camptosynpolydactyly_complex_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Camptosynpolydactyly_complex_patient_1.json new file mode 100644 index 000000000..d271863f3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Camptosynpolydactyly_complex_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "camptosynpolydactyly,_complex", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001792", + "label": "Small nail" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607539", + "label": "Camptosynpolydactyly, complex" + } + } + ], + "metaData": { + "created": "2024-06-11T21:18:55.094623Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Camurati_Engelmann_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Camurati_Engelmann_disease_patient_1.json new file mode 100644 index 000000000..95d48bfa9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Camurati_Engelmann_disease_patient_1.json @@ -0,0 +1,86 @@ +{ + "id": "camurati-engelmann_disease", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P46Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005791", + "label": "Cortical thickening of long bone diaphyses" + } + }, + { + "type": { + "id": "HP:0001533", + "label": "Slender build" + } + }, + { + "type": { + "id": "HP:0005528", + "label": "Bone marrow hypocellularity" + } + }, + { + "type": { + "id": "HP:0003758", + "label": "Reduced subcutaneous adipose tissue" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0000823", + "label": "Delayed puberty" + } + }, + { + "type": { + "id": "HP:0012514", + "label": "Lower limb pain" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:131300", + "label": "Camurati-Engelmann disease" + } + } + ], + "metaData": { + "created": "2024-06-12T00:30:46.896893Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Camurati_engelmann_disease_type_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Camurati_engelmann_disease_type_2_patient_1.json new file mode 100644 index 000000000..e2c1f7839 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Camurati_engelmann_disease_type_2_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "camurati-engelmann_disease,_type_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034993", + "label": "Hip internal rotation contracture" + } + }, + { + "type": { + "id": "HP:0006380", + "label": "Knee flexion contracture" + } + }, + { + "type": { + "id": "HP:0025021", + "label": "Abnormal erythrocyte sedimentation rate" + } + }, + { + "type": { + "id": "HP:0012507", + "label": "Weakness of orbicularis oculi muscle" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606631", + "label": "Camurati-engelmann disease, type 2" + } + } 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"id": "canavan_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000256", + "label": "Macrocephaly" + } + }, + { + "type": { + "id": "HP:0002069", + "label": "Bilateral tonic-clonic seizure" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0025053", + "label": "Elevated brain N-acetyl aspartate level by MRS" + } + }, + { + "type": { + "id": "HP:6000354", + "label": "Reduced aspartoacylase activity in cultured fibroblasts" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0033354", + "label": "Abnormal urine metabolite level" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:271900", + "label": "Canavan disease" + } + } + ], + "metaData": { + "created": "2024-06-11T19:51:49.512058Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cancer_alopecia_pigment_dyscrasia_onychodystrophy_and_keratoderma_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cancer_alopecia_pigment_dyscrasia_onychodystrophy_and_keratoderma_patient_1.json new file mode 100644 index 000000000..1b40a1f8e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cancer_alopecia_pigment_dyscrasia_onychodystrophy_and_keratoderma_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "cancer,_alopecia,_pigment_dyscrasia,_onychodystrophy,_and_keratoderma", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008404", + "label": "Nail dystrophy" + } + }, + { + "type": { + "id": "HP:0005987", + "label": "Multinodular goiter" + } + }, + { + "type": { + "id": "HP:0001034", + "label": "Hypermelanotic macule" + } + }, + { + "type": { + "id": "HP:0030679", + "label": "Ash-leaf spot" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618373", + "label": "Cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma" + } + } + ], + "metaData": { + "created": "2024-06-11T20:56:50.650897Z", + "createdBy": 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@@ +{ + "id": "cancer,_familial,_with_in_vitro_radioresistance", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002664", + "label": "Neoplasm" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:114450", + "label": "Cancer, familial, with in vitro radioresistance" + } + } + ], + "metaData": { + "created": "2024-06-11T22:15:14.821958Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Candidiasis_familial_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Candidiasis_familial_3_patient_1.json new file mode 100644 index 000000000..271425a77 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Candidiasis_familial_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "candidiasis,_familial,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008396", + "label": "Chronic monilial nail infection" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607644", + "label": "Candidiasis, familial, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:47:21.853345Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Candidiasis_familial_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Candidiasis_familial_4_patient_1.json new file mode 100644 index 000000000..7dc18c92d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Candidiasis_familial_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "candidiasis,_familial,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012204", + "label": "Recurrent vulvovaginal candidiasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613108", + "label": "Candidiasis, familial, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T18:09:09.605582Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Candidiasis_familial_6_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Candidiasis_familial_6_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..5bb8d5685 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Candidiasis_familial_6_autosomal_dominant_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "candidiasis,_familial,_6,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002728", + "label": "Chronic mucocutaneous candidiasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613956", + "label": "Candidiasis, familial, 6, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:41.378245Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Candidiasis_familial_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Candidiasis_familial_8_patient_1.json new file mode 100644 index 000000000..22feb1e63 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Candidiasis_familial_8_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "candidiasis,_familial,_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012203", + "label": "Onychomycosis" + } + }, + { + "type": { + "id": "HP:0001051", + "label": "Seborrheic dermatitis" + } + }, + { + "type": { + "id": "HP:0009098", + "label": "Chronic oral candidiasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615527", + "label": "Candidiasis, familial, 8" + } + } + ], + "metaData": { + "created": 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"candidiasis,_familial,_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002728", + "label": "Chronic mucocutaneous candidiasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616445", + "label": "Candidiasis, familial, 9" + } + } + ], + "metaData": { + "created": "2024-06-11T23:46:42.686870Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Candidiasis_familial_chronic_mucocutaneous_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Candidiasis_familial_chronic_mucocutaneous_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..2798d6a1d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Candidiasis_familial_chronic_mucocutaneous_autosomal_dominant_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "candidiasis,_familial_chronic_mucocutaneous,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006480", + "label": "Premature loss of teeth" + } + }, + { + "type": { + "id": "HP:0002965", + "label": "Cutaneous anergy" + } + }, + { + "type": { + "id": "HP:0002728", + "label": "Chronic mucocutaneous candidiasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:114580", + "label": "Candidiasis, familial chronic mucocutaneous, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T22:53:55.732616Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Candidiasis_familial_chronic_mucocutaneous_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Candidiasis_familial_chronic_mucocutaneous_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..226e92588 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Candidiasis_familial_chronic_mucocutaneous_autosomal_recessive_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "candidiasis,_familial_chronic_mucocutaneous,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032515", + "label": "Deep dermatophytosis" + } + }, + { + "type": { + "id": "HP:0040303", + "label": "Decreased circulating iron concentration" + } + }, + { + "type": { + "id": "HP:0012203", + "label": "Onychomycosis" + } + }, + { + "type": { + "id": "HP:0003212", + "label": "Increased circulating IgE level" + } + }, + { + "type": { + "id": "HP:0032061", + "label": "Hypereosinophilia" + } + }, + { + "type": { + "id": "HP:0032259", + "label": "Chronic tinea infection" + } + }, + { + "type": { + "id": "HP:0002716", + "label": "Lymphadenopathy" + } + }, + { + "type": { + "id": "HP:0001871", + "label": "Abnormality of blood and blood-forming tissues" + } + }, + { + "type": { + "id": "HP:0032101", + "label": "Unusual infection" + } + }, + { + "type": { + "id": "HP:6000031", + "label": "Phaeohyphomycosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:212050", + "label": "Candidiasis, familial chronic mucocutaneous, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T20:15:58.219967Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Canine_teeth_absence_of_upper_permanent_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Canine_teeth_absence_of_upper_permanent_patient_1.json new file mode 100644 index 000000000..ec1af4d2b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Canine_teeth_absence_of_upper_permanent_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "canine_teeth,_absence_of_upper_permanent", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012738", + "label": "Agenesis of canine" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:114600", + "label": "Canine teeth, absence of upper permanent" + } + } + ], + "metaData": { + "created": "2024-06-11T18:04:10.202798Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Capillary_malformation_arteriovenous_malformation_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Capillary_malformation_arteriovenous_malformation_1_patient_1.json new file mode 100644 index 000000000..7ab87495d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Capillary_malformation_arteriovenous_malformation_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "capillary_malformation-arteriovenous_malformation_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025104", + "label": "Capillary malformation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608354", + "label": "Capillary malformation-arteriovenous malformation 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:05:40.646293Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Capillary_malformation_arteriovenous_malformation_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Capillary_malformation_arteriovenous_malformation_2_patient_1.json new file mode 100644 index 000000000..68ed399fa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Capillary_malformation_arteriovenous_malformation_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "capillary_malformation-arteriovenous_malformation_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025104", + "label": "Capillary malformation" + } + }, + { + "type": { + "id": "HP:0100579", + "label": "Mucosal telangiectasiae" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618196", + "label": "Capillary malformation-arteriovenous malformation 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:15:17.081894Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Capillary_malformation_of_the_lower_lip_lymphatic_malformation_of_face_and_neck_asymmetry_of_face_and_limbs_and_partial_generalized_overgrowth_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Capillary_malformation_of_the_lower_lip_lymphatic_malformation_of_face_and_neck_asymmetry_of_face_and_limbs_and_partial_generalized_overgrowth_patient_1.json new file mode 100644 index 000000000..6ed9bbfa1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Capillary_malformation_of_the_lower_lip_lymphatic_malformation_of_face_and_neck_asymmetry_of_face_and_limbs_and_partial_generalized_overgrowth_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "capillary_malformation_of_the_lower_lip,_lymphatic_malformation_of_face_and_neck,_asymmetry_of_face_and_limbs,_and_partial/generalized_overgrowth", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001004", + "label": "Lymphedema" + } + }, + { + "type": { + "id": "HP:0031487", + "label": "Capillary malformation of the lip" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613089", + "label": "Capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth" + } + } + ], + "metaData": { + "created": "2024-06-11T22:53:00.111697Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Car_factor_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Car_factor_deficiency_patient_1.json new file mode 100644 index 000000000..1c603b020 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Car_factor_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "car_factor_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:114650", + "label": "Car factor deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T22:11:30.722540Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Carabelli_anomaly_of_maxillary_molar_teeth_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Carabelli_anomaly_of_maxillary_molar_teeth_patient_1.json new file mode 100644 index 000000000..42121601c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Carabelli_anomaly_of_maxillary_molar_teeth_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "carabelli_anomaly_of_maxillary_molar_teeth", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000164", + "label": "Abnormality of the dentition" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:114700", + "label": "Carabelli anomaly of maxillary molar teeth" + } + } + ], + "metaData": { + "created": "2024-06-11T20:05:51.586329Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Carbamoyl_phosphate_synthetase_I_deficiency_hyperammonemia_due_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Carbamoyl_phosphate_synthetase_I_deficiency_hyperammonemia_due_to_patient_1.json new file mode 100644 index 000000000..b3563671e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Carbamoyl_phosphate_synthetase_I_deficiency_hyperammonemia_due_to_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "carbamoyl_phosphate_synthetase_i_deficiency,_hyperammonemia_due_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0002587", + "label": "Projectile vomiting" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:0011342", + "label": "Mild global developmental delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:237300", + "label": "Carbamoyl phosphate synthetase I deficiency, hyperammonemia due to" + } + } + ], + "metaData": { + "created": "2024-06-11T18:21:41.604489Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Carbimazole_sensitivity_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Carbimazole_sensitivity_patient_1.json new file mode 100644 index 000000000..62b798417 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Carbimazole_sensitivity_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "carbimazole_sensitivity", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012235", + "label": "Drug-induced agranulocytosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:212060", + "label": "Carbimazole sensitivity" + } + } + ], + "metaData": { + "created": "2024-06-11T21:29:01.203502Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Carboxypeptidase_N_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Carboxypeptidase_N_deficiency_patient_1.json new file mode 100644 index 000000000..d111eb39d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Carboxypeptidase_N_deficiency_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "carboxypeptidase_n_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001025", + "label": "Urticaria" + } + }, + { + "type": { + "id": "HP:6000560", + "label": "Decreased circulating carboxypeptidase N activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:212070", + "label": "Carboxypeptidase N deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T22:12:24.028212Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Carcinoid_tumors_intestinal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Carcinoid_tumors_intestinal_patient_1.json new file mode 100644 index 000000000..c73704356 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Carcinoid_tumors_intestinal_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "carcinoid_tumors,_intestinal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006723", + "label": "Intestinal carcinoid" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:114900", + "label": "Carcinoid tumors, intestinal" + } + } + ], + "metaData": { + "created": "2024-06-11T22:32:07.815869Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Card11_immunodeficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Card11_immunodeficiency_patient_1.json new file mode 100644 index 000000000..eb4b13ea6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Card11_immunodeficiency_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "card11_immunodeficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004432", + "label": "Agammaglobulinemia" + } + }, + { + "type": { + "id": "HP:0012312", + "label": "Monocytopenia" + } + }, + { + "type": { + "id": "HP:0004313", + "label": "Decreased circulating antibody level" + } + }, + { + "type": { + "id": "HP:0020102", + "label": "Pneumocystis jirovecii pneumonia" + } + }, + { + "type": { + "id": "HP:0031402", + "label": "Reduced antigen-specific T cell proliferation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615206", + "label": "Card11 immunodeficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T23:55:42.023294Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiac_Urogenital_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiac_Urogenital_syndrome_patient_1.json new file mode 100644 index 000000000..1ded1dd8a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiac_Urogenital_syndrome_patient_1.json @@ -0,0 +1,153 @@ +{ + "id": "cardiac-urogenital_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000048", + "label": "Bifid scrotum" + } + }, + { + "type": { + "id": "HP:0410259", + "label": "Hepatopulmonary fusion" + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + }, + { + "type": { + "id": "HP:0004794", + "label": "Malrotation of small bowel" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0033353", + "label": "Abnormal blood vessel morphology" + } + }, + { + "type": { + "id": "HP:0031677", + "label": "Polymorphic ventricular tachycardia" + } + }, + { + "type": { + "id": "HP:0200128", + "label": "Biventricular hypertrophy" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0100627", + "label": "Displacement of the urethral meatus" + } + }, + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + }, + { + "type": { + "id": "HP:0011626", + "label": "Scimitar anomaly" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0012741", + "label": "Unilateral cryptorchidism" + } + }, + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + }, + { + "type": { 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiac_arrhythmia_ankyrin_B_related_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiac_arrhythmia_ankyrin_B_related_patient_1.json new file mode 100644 index 000000000..2c9fb8c5c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiac_arrhythmia_ankyrin_B_related_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cardiac_arrhythmia,_ankyrin-b-related", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005110", + "label": "Atrial fibrillation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600919", + "label": "Cardiac arrhythmia, ankyrin-B-related" + } + } + ], + "metaData": { + "created": "2024-06-11T20:51:50.735492Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiac_conduction_disease_with_or_without_dilated_cardiomyopathy_patient_1.json new file mode 100644 index 000000000..f4b687cc5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiac_conduction_disease_with_or_without_dilated_cardiomyopathy_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "cardiac_conduction_disease_with_or_without_dilated_cardiomyopathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001635", + "label": "Congestive heart failure" + } + }, + { + "type": { + "id": "HP:0005110", + "label": "Atrial fibrillation" + } + }, + { + "type": { + "id": "HP:0011712", + "label": "Right bundle branch block" + } + }, + { + "type": { + "id": "HP:0005184", + "label": "Prolonged QTc interval" + } + }, + { + "type": { + "id": "HP:0001649", + "label": "Tachycardia" + } + }, + { + "type": { + "id": "HP:0004749", + "label": "Atrial flutter" + } + } + ], + "diseases": [ 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiac_lipidosis_familial_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cardiac_lipidosis,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001638", + "label": "Cardiomyopathy" + } + }, + { + "type": { + "id": "HP:6000541", + "label": "Positive cutaneous herpes simplex virus nucleic acid test" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:212080", + "label": "Cardiac lipidosis, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T19:45:51.839835Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiac_valvular_defect_developmental_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "cardiac_valvular_defect,_developmental", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011662", + "label": "Tricuspid atresia" + } + }, + { + "type": { + "id": "HP:0011004", + "label": "Abnormal systemic arterial morphology" + } + }, + { + "type": { + "id": "HP:0000023", + "label": "Inguinal hernia" + } + }, + { + "type": { + "id": "HP:0011555", + "label": "Double inlet left ventricle" + } + }, + { + "type": { + "id": "HP:0034349", + "label": "Supravalvar pulmonary stenosis" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + }, + { + "type": { + "id": "HP:0031650", + "label": "Abnormal atrioventricular valve physiology" + } + }, + { + "type": { + "id": "HP:0000969", + "label": "Edema" + } + }, + { + "type": { + "id": "HP:0008722", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiac_valvular_dysplasia_X_linked_patient_1.json new file mode 100644 index 000000000..affbc222d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiac_valvular_dysplasia_X_linked_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "cardiac_valvular_dysplasia,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000336", + "label": "Prominent supraorbital ridges" + } + }, + { + "type": { + "id": "HP:0001722", + "label": "High-output congestive heart failure" + } + }, + { + "type": { + "id": "HP:0000215", + "label": "Thick upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0006705", + "label": "Abnormal atrioventricular valve morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:314400", + "label": "Cardiac valvular dysplasia, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T21:52:56.805171Z", + "createdBy": 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], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiofacioneurodevelopmental_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiofacioneurodevelopmental_syndrome_patient_1.json new file mode 100644 index 000000000..3e510d7b2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiofacioneurodevelopmental_syndrome_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "cardiofacioneurodevelopmental_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006695", + "label": "Atrioventricular canal defect" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000601", + "label": "Hypotelorism" + } + }, + { + "type": { + "id": "HP:0008386", + "label": "Aplasia/Hypoplasia of the nails" + } + }, + { + "type": { + "id": "HP:0000411", + "label": "Protruding ear" + } + }, + { + "type": { + "id": "HP:0410030", + "label": "Cleft lip" + } + }, + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0012385", + "label": "Camptodactyly" + } + }, + { + "type": { + "id": "HP:0008872", + "label": "Feeding difficulties in infancy" + } + }, + { + "type": { + "id": "HP:0001320", + "label": "Cerebellar vermis hypoplasia" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0004209", + "label": "Clinodactyly of the 5th finger" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0100888", + "label": "Interdigital loops" + } + }, + { + "type": { + "id": "HP:0040195", + "label": "Decreased head circumference" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619123", + "label": "Cardiofacioneurodevelopmental syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:09:24.942957Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_associated_with_myopathy_and_sudden_death_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_associated_with_myopathy_and_sudden_death_patient_1.json new file mode 100644 index 000000000..4f61cadc0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_associated_with_myopathy_and_sudden_death_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cardiomyopathy_associated_with_myopathy_and_sudden_death", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003198", + "label": "Myopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:212130", + "label": "Cardiomyopathy associated with myopathy and sudden death" + } + } + ], + "metaData": { + "created": "2024-06-11T20:27:21.983826Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1AA_with_or_without_LVNC_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1AA_with_or_without_LVNC_patient_1.json new file mode 100644 index 000000000..e7b550ec6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1AA_with_or_without_LVNC_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "cardiomyopathy,_dilated,_1aa,_with_or_without_lvnc", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031319", + "label": "Cardiomyocyte hypertrophy" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0001638", + "label": "Cardiomyopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612158", + "label": "Cardiomyopathy, dilated, 1AA, with or without LVNC" + } + } + ], + "metaData": { + "created": "2024-06-11T18:49:39.647894Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1A_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1A_patient_1.json new file mode 100644 index 000000000..6b081bf4a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1A_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "cardiomyopathy,_dilated,_1a", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001645", + "label": "Sudden cardiac death" + } + }, + { + "type": { + "id": "HP:0001688", + "label": "Sinus bradycardia" + } + }, + { + "type": { + "id": "HP:0004749", + "label": "Atrial flutter" + } + }, + { + "type": { + "id": "HP:0004308", + "label": "Ventricular arrhythmia" + } + }, + { + "type": { + "id": "HP:0001635", + "label": "Congestive heart failure" + } + }, + { + "type": { + "id": "HP:0001644", + "label": "Dilated cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0005110", + "label": "Atrial fibrillation" + } + }, + { + "type": { + "id": "HP:0001698", + "label": "Pericardial effusion" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:115200", + "label": "Cardiomyopathy, dilated, 1A" + } + } + ], + "metaData": { + "created": "2024-06-11T22:10:24.101930Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1BB_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1BB_patient_1.json new file mode 100644 index 000000000..bbf26fa7d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1BB_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cardiomyopathy,_dilated,_1bb", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001635", + "label": "Congestive heart failure" + } + }, + { + "type": { + "id": "HP:0011713", + "label": "Left bundle branch block" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612877", + "label": "Cardiomyopathy, dilated, 1BB" + } + } + ], + "metaData": { + "created": "2024-06-11T21:36:03.428887Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1B_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1B_patient_1.json new file mode 100644 index 000000000..09e889f8d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1B_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cardiomyopathy,_dilated,_1b", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001644", + "label": "Dilated cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0001635", + "label": "Congestive heart failure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600884", + "label": "Cardiomyopathy, dilated, 1B" + } + } + ], + "metaData": { + "created": "2024-06-11T20:12:46.471744Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1C_with_or_without_left_ventricular_noncompaction_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1C_with_or_without_left_ventricular_noncompaction_patient_1.json new file mode 100644 index 000000000..0a983170e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1C_with_or_without_left_ventricular_noncompaction_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "cardiomyopathy,_dilated,_1c,_with_or_without_left_ventricular_noncompaction", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006685", + "label": "Endocardial fibrosis" + } + }, + { + "type": { + "id": "HP:0001712", + "label": "Left ventricular hypertrophy" + } + }, + { + "type": { + "id": "HP:0001635", + "label": "Congestive heart failure" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0001645", + "label": "Sudden cardiac death" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601493", + "label": "Cardiomyopathy, dilated, 1C, with or without left ventricular noncompaction" + } + } + ], + "metaData": { + "created": "2024-06-11T18:18:21.554131Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1DD_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1DD_patient_1.json new file mode 100644 index 000000000..ae2ef4ca5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1DD_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cardiomyopathy,_dilated,_1dd", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001645", + "label": "Sudden cardiac death" + } + }, + { + "type": { + "id": "HP:0001644", + "label": "Dilated cardiomyopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613172", + "label": "Cardiomyopathy, dilated, 1DD" + } + } + ], + "metaData": { + "created": "2024-06-11T22:14:39.244842Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1D_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1D_patient_1.json new file mode 100644 index 000000000..dcd36a510 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1D_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "cardiomyopathy,_dilated,_1d", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001722", + "label": "High-output congestive heart failure" + } + }, + { + "type": { + "id": "HP:0001644", + "label": "Dilated cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0030682", + "label": "Left ventricular noncompaction" + } + }, + { + "type": { + "id": "HP:0012665", + "label": "Moderately reduced left ventricular ejection fraction" + } + }, + { + "type": { + "id": "HP:0033534", + "label": "Increased circulating brain natriuretic peptide concentration" + } + }, + { + "type": { + "id": "HP:0005162", + "label": "Abnormal left ventricular function" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601494", + "label": "Cardiomyopathy, dilated, 1D" + } + } + ], + "metaData": { + "created": "2024-06-11T19:12:15.407027Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1EE_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1EE_patient_1.json new file mode 100644 index 000000000..2dff4816a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1EE_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cardiomyopathy,_dilated,_1ee", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001644", + "label": "Dilated cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613252", + "label": "Cardiomyopathy, dilated, 1EE" + } + } + ], + "metaData": { + "created": "2024-06-11T18:50:19.788838Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": 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+ "type": { + "id": "HP:0006670", + "label": "Impaired myocardial contractility" + } + }, + { + "type": { + "id": "HP:0011675", + "label": "Arrhythmia" + } + }, + { + "type": { + "id": "HP:0031546", + "label": "Cardiac conduction abnormality" + } + }, + { + "type": { + "id": "HP:0011675", + "label": "Arrhythmia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601154", + "label": "Cardiomyopathy, dilated, 1E" + } + } + ], + "metaData": { + "created": "2024-06-11T19:30:31.403900Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1FF_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1FF_patient_1.json new file mode 100644 index 000000000..e53e5210f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1FF_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cardiomyopathy,_dilated,_1ff", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001635", + "label": "Congestive heart failure" + } + }, + { + "type": { + "id": "HP:0033755", + "label": "Increased left ventricular end-diastolic volume" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613286", + "label": "Cardiomyopathy, dilated, 1FF" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:03.331385Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1GG_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1GG_patient_1.json new file mode 100644 index 000000000..57efdbbae --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1GG_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "cardiomyopathy,_dilated,_1gg", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002098", + "label": "Respiratory distress" + } + }, + { + "type": { + "id": "HP:0030149", + "label": "Cardiogenic shock" + } + }, + { + "type": { + "id": "HP:0001644", + "label": "Dilated cardiomyopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613642", + "label": "Cardiomyopathy, dilated, 1GG" + } + } + ], + "metaData": { + "created": "2024-06-11T18:56:14.403748Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1G_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1G_patient_1.json new file mode 100644 index 000000000..c9edba962 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1G_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cardiomyopathy,_dilated,_1g", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001635", + "label": "Congestive heart failure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604145", + "label": "Cardiomyopathy, dilated, 1G" + } + } + ], + "metaData": { + "created": "2024-06-11T21:04:45.200774Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1HH_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1HH_patient_1.json new file mode 100644 index 000000000..89e60f6fd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1HH_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cardiomyopathy,_dilated,_1hh", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001644", + "label": "Dilated cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0033755", + "label": "Increased left ventricular end-diastolic volume" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613881", + "label": "Cardiomyopathy, dilated, 1HH" + } + } + ], + "metaData": { + "created": "2024-06-11T23:06:41.884663Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1H_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1H_patient_1.json new file mode 100644 index 000000000..80c936458 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1H_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cardiomyopathy,_dilated,_1h", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001644", + "label": "Dilated cardiomyopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604288", + "label": "Cardiomyopathy, dilated, 1H" + } + } + ], + "metaData": { + "created": "2024-06-11T18:42:51.668123Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1II_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1II_patient_1.json new file mode 100644 index 000000000..e95549840 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1II_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cardiomyopathy,_dilated,_1ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003236", + "label": "Elevated circulating creatine kinase concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615184", + "label": "Cardiomyopathy, dilated, 1II" + } + } + ], + "metaData": { + "created": "2024-06-11T19:05:49.397176Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1I_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1I_patient_1.json new file mode 100644 index 000000000..908b3e437 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1I_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "cardiomyopathy,_dilated,_1i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001644", + "label": "Dilated cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0025169", + "label": "Left ventricular systolic dysfunction" + } + }, + { + "type": { + "id": "HP:0001640", + "label": "Cardiomegaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604765", + "label": "Cardiomyopathy, dilated, 1I" + } + } + ], + "metaData": { + "created": "2024-06-11T20:32:51.196986Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1JJ_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1JJ_patient_1.json new file mode 100644 index 000000000..9308a2a82 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1JJ_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cardiomyopathy,_dilated,_1jj", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001644", + "label": "Dilated cardiomyopathy" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615235", + "label": "Cardiomyopathy, dilated, 1JJ" + } + } + ], + "metaData": { + "created": "2024-06-11T18:07:29.708252Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1J_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1J_patient_1.json new file mode 100644 index 000000000..df6e6565c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1J_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "cardiomyopathy,_dilated,_1j", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P42Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030872", + "label": "Abnormal cardiac ventricular function" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605362", + "label": "Cardiomyopathy, dilated, 1J" + } + } + ], + "metaData": { + "created": "2024-06-11T23:36:49.060034Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1KK_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1KK_patient_1.json new file mode 100644 index 000000000..0d96ea790 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1KK_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "cardiomyopathy,_dilated,_1kk", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + }, + { + "type": { + "id": "HP:0005144", + "label": "Ventricular septal hypertrophy" + } + }, + { + "type": { + "id": "HP:0001644", + "label": "Dilated cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + }, + { + "type": { + "id": "HP:0005162", + "label": "Abnormal left ventricular function" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615248", + "label": "Cardiomyopathy, dilated, 1KK" + } + } + ], + "metaData": { + "created": "2024-06-11T21:49:47.881982Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1K_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1K_patient_1.json new file mode 100644 index 000000000..37c5c4bfa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1K_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cardiomyopathy,_dilated,_1k", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001644", + "label": "Dilated cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0009805", + "label": "Low-output congestive heart failure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605582", + "label": "Cardiomyopathy, dilated, 1K" + } + } + ], + "metaData": { + "created": "2024-06-11T18:25:47.826556Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1L_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1L_patient_1.json new file mode 100644 index 000000000..2f1056739 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1L_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cardiomyopathy,_dilated,_1l", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006673", + "label": "Reduced systolic function" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606685", + "label": "Cardiomyopathy, dilated, 1L" + } + } + ], + "metaData": { + "created": "2024-06-11T23:13:36.470310Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"HP:0012664", + "label": "Reduced left ventricular ejection fraction" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607482", + "label": "Cardiomyopathy, dilated, 1M" + } + } + ], + "metaData": { + "created": "2024-06-11T20:58:09.948505Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1OO_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1OO_patient_1.json new file mode 100644 index 000000000..625fe728a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1OO_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "cardiomyopathy,_dilated,_1oo", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012664", + "label": "Reduced left ventricular ejection fraction" + } + }, + { + "type": { + "id": "HP:0011706", + "label": "Second degree atrioventricular block" + } + }, + { + "type": { + "id": "HP:0001644", + "label": "Dilated cardiomyopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620247", + "label": "Cardiomyopathy, dilated, 1OO" + } + } + ], + "metaData": { + "created": "2024-06-11T23:28:01.521755Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1O_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1O_patient_1.json new file mode 100644 index 000000000..9a14931ca --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1O_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "cardiomyopathy,_dilated,_1o", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P18Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004308", + "label": "Ventricular arrhythmia" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608569", + "label": "Cardiomyopathy, dilated, 1O" + } + } + ], + "metaData": { + "created": "2024-06-11T21:02:35.532524Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1P_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1P_patient_1.json new file mode 100644 index 000000000..8bcdee75c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1P_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cardiomyopathy,_dilated,_1p", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004308", + "label": "Ventricular arrhythmia" + } + }, + { + "type": { + "id": "HP:0005185", + "label": "Global systolic dysfunction" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609909", + "label": "Cardiomyopathy, dilated, 1P" + } + } + ], + "metaData": { + "created": "2024-06-11T22:28:01.339473Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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"HP:0001644", + "label": "Dilated cardiomyopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609915", + "label": "Cardiomyopathy, dilated, 1Q" + } + } + ], + "metaData": { + "created": "2024-06-11T20:52:09.669466Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1R_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1R_patient_1.json new file mode 100644 index 000000000..fa1be62aa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1R_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "cardiomyopathy,_dilated,_1r", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031329", + "label": "Interstitial cardiac fibrosis" + } + }, + { + "type": { + "id": "HP:0030682", + "label": "Left ventricular noncompaction" + } + }, + { + "type": { + "id": "HP:0001644", + "label": "Dilated cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613424", + "label": "Cardiomyopathy, dilated, 1R" + } + } + ], + "metaData": { + "created": "2024-06-11T19:26:43.209150Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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"HP:0001635", + "label": "Congestive heart failure" + } + }, + { + "type": { + "id": "HP:0005180", + "label": "Tricuspid regurgitation" + } + }, + { + "type": { + "id": "HP:0012664", + "label": "Reduced left ventricular ejection fraction" + } + }, + { + "type": { + "id": "HP:0010316", + "label": "Ebstein anomaly of the tricuspid valve" + } + }, + { + "type": { + "id": "HP:0004971", + "label": "Pulmonary artery hypoplasia" + } + }, + { + "type": { + "id": "HP:0030682", + "label": "Left ventricular noncompaction" + } + }, + { + "type": { + "id": "HP:0031329", + "label": "Interstitial cardiac fibrosis" + } + }, + { + "type": { + "id": "HP:0011682", + "label": "Perimembranous ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0001647", + "label": "Bicuspid aortic valve" + } + }, + { + "type": { + "id": "HP:0004756", + "label": "Ventricular tachycardia" + } + }, + { + "type": { + "id": "HP:0011004", + "label": "Abnormal systemic arterial morphology" + } + } + ], + "diseases": [ 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1U_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "cardiomyopathy,_dilated,_1u", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001644", + "label": "Dilated cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0033755", + "label": "Increased left ventricular end-diastolic volume" + } + }, + { + "type": { + "id": "HP:0030872", + "label": "Abnormal cardiac ventricular function" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613694", + "label": "Cardiomyopathy, dilated, 1U" + } + } + ], + "metaData": { + "created": "2024-06-11T18:34:51.133105Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": 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heart failure" + } + }, + { + "type": { + "id": "HP:0011711", + "label": "Left anterior fascicular block" + } + }, + { + "type": { + "id": "HP:0012670", + "label": "Orthostatic syncope" + } + }, + { + "type": { + "id": "HP:0002439", + "label": "Frontolimbic dementia" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613697", + "label": "Cardiomyopathy, dilated, 1V" + } + } + ], + "metaData": { + "created": "2024-06-11T18:57:47.683050Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1W_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1W_patient_1.json new file mode 100644 index 000000000..b72c54044 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1W_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cardiomyopathy,_dilated,_1w", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033755", + "label": "Increased left ventricular end-diastolic volume" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611407", + "label": "Cardiomyopathy, dilated, 1W" + } + } + ], + "metaData": { + "created": "2024-06-11T22:09:13.679586Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + }, + { + "type": { + "id": "HP:0011664", + "label": "Left ventricular noncompaction cardiomyopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611878", + "label": "Cardiomyopathy, dilated, 1Y" + } + } + ], + "metaData": { + "created": "2024-06-11T23:18:31.356765Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1Z_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1Z_patient_1.json new file mode 100644 index 000000000..8dc964687 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1Z_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cardiomyopathy,_dilated,_1z", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001635", + "label": "Congestive heart failure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611879", + "label": "Cardiomyopathy, dilated, 1Z" + } + } + ], + "metaData": { + "created": "2024-06-11T23:17:23.881887Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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000000000..aad034269 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_1nn_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "cardiomyopathy,_dilated,_1nn", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001653", + "label": "Mitral regurgitation" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + }, + { + "type": { + "id": "HP:0033755", + "label": "Increased left ventricular end-diastolic volume" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615916", + "label": "Cardiomyopathy, dilated, 1nn" + } + } + ], + "metaData": { + "created": "2024-06-11T20:08:03.801334Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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"namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_2E_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_2E_patient_1.json new file mode 100644 index 000000000..928e324df --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_2E_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "cardiomyopathy,_dilated,_2e", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001644", + "label": "Dilated cardiomyopathy" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619492", + "label": "Cardiomyopathy, dilated, 2E" + } + } + ], 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_2F_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cardiomyopathy,_dilated,_2f", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + }, + { + "type": { + "id": "HP:0005162", + "label": "Abnormal left ventricular function" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619747", + "label": "Cardiomyopathy, dilated, 2F" + } + } + ], + "metaData": { + "created": "2024-06-11T18:13:49.662860Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_3B_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_3B_patient_1.json new file mode 100644 index 000000000..ff46fc337 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_dilated_3B_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cardiomyopathy,_dilated,_3b", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003557", + "label": "Increased variability in muscle fiber diameter" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:302045", + "label": "Cardiomyopathy, dilated, 3B" + } + } + ], + "metaData": { + "created": "2024-06-11T20:07:37.208005Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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"id": "HP:0001030", + "label": "Fragile skin" + } + }, + { + "type": { + "id": "HP:0000982", + "label": "Palmoplantar keratoderma" + } + }, + { + "type": { + "id": "HP:0002224", + "label": "Woolly hair" + } + }, + { + "type": { + "id": "HP:0000972", + "label": "Palmoplantar hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0045075", + "label": "Sparse eyebrow" + } + }, + { + "type": { + "id": "HP:0100792", + "label": "Acantholysis" + } + }, + { + "type": { + "id": "HP:0008066", + "label": "Abnormal blistering of the skin" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605676", + "label": "Cardiomyopathy, dilated, with woolly hair and keratoderma" + } + } + ], + "metaData": { + "created": "2024-06-11T21:15:58.704832Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_familial_hypertrophic_13_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "cardiomyopathy,_familial_hypertrophic,_13", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011711", + "label": "Left anterior fascicular block" + } + }, + { + "type": { + "id": "HP:0031992", + "label": "Apical hypertrophic cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0031546", + "label": "Cardiac conduction abnormality" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613243", + "label": "Cardiomyopathy, familial hypertrophic, 13" + } + } + ], + "metaData": { + "created": "2024-06-11T18:24:10.185373Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_familial_hypertrophic_15_patient_1.json new file mode 100644 index 000000000..f07ceabef --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_familial_hypertrophic_15_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "cardiomyopathy,_familial_hypertrophic,_15", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001635", + "label": "Congestive heart failure" + } + }, + { + "type": { + "id": "HP:0004890", + "label": "Elevated pulmonary artery pressure" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613255", + "label": "Cardiomyopathy, familial hypertrophic, 15" + } + } + ], + "metaData": { + "created": "2024-06-11T17:50:49.011825Z", + "createdBy": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_familial_hypertrophic_20_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cardiomyopathy,_familial_hypertrophic,_20", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031992", + "label": "Apical hypertrophic cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0005129", + "label": "Congenital hypertrophy of left ventricle" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613876", + "label": "Cardiomyopathy, familial hypertrophic, 20" + } + } + ], + "metaData": { + "created": "2024-06-11T17:43:57.970188Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_familial_hypertrophic_28_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_familial_hypertrophic_28_patient_1.json new file mode 100644 index 000000000..a8fa0388c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_familial_hypertrophic_28_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "cardiomyopathy,_familial_hypertrophic,_28", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0032570", + "label": "Pontine ischemic lacunes" + } + }, + { + "type": { + "id": "HP:0031295", + "label": "Left atrial enlargement" + } + }, + { + "type": { + "id": "HP:0030872", + "label": "Abnormal cardiac ventricular function" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619402", + "label": "Cardiomyopathy, familial 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_familial_hypertrophic_30_atrial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_familial_hypertrophic_30_atrial_patient_1.json new file mode 100644 index 000000000..5ce40e91d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cardiomyopathy_familial_hypertrophic_30_atrial_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cardiomyopathy,_familial_hypertrophic,_30,_atrial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004749", + "label": "Atrial flutter" + } + }, + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620734", + "label": "Cardiomyopathy, familial hypertrophic, 30, atrial" + } + } + ], + "metaData": { + "created": "2024-06-11T23:01:11.221516Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + 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], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Carnitine_palmitoyltransferase_II_deficiency_infantile_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Carnitine_palmitoyltransferase_II_deficiency_infantile_patient_1.json new file mode 100644 index 000000000..aaecccc09 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Carnitine_palmitoyltransferase_II_deficiency_infantile_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "carnitine_palmitoyltransferase_ii_deficiency,_infantile", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002157", + "label": "Azotemia" + } + }, + { + "type": { + "id": "HP:0034684", + "label": "Abnormal enzyme concentration or activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600649", + "label": "Carnitine palmitoyltransferase II deficiency, infantile" + } + } + ], + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_19_multiple_types_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cataract_19,_multiple_types", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000646", + "label": "Amblyopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615277", + "label": "Cataract 19, multiple types" + } + } + ], + "metaData": { + "created": "2024-06-11T21:25:16.325864Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_1_multiple_types_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_1_multiple_types_patient_1.json new file mode 100644 index 000000000..5ea6297ec --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_1_multiple_types_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "cataract_1,_multiple_types", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010693", + "label": "Pulverulent cataract" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:116200", + "label": "Cataract 1, multiple types" + } + } + ], + "metaData": { + "created": "2024-06-11T17:43:11.604215Z", + "createdBy": "phenotype2phenopacket", + "resources": 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0100018", + "label": "Nuclear cataract" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:116100", + "label": "Cataract 20, multiple types" + } + } + ], + "metaData": { + "created": "2024-06-11T19:38:22.399751Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_21_multiple_types_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_21_multiple_types_patient_1.json new file mode 100644 index 000000000..a70669af4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_21_multiple_types_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "cataract_21,_multiple_types", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P9Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007780", + "label": "Cortical pulverulent cataract" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0007957", + "label": "Corneal opacity" + } + }, + { + "type": { + "id": "HP:0001104", + "label": "Macular hypoplasia" + } + }, + { + "type": { + "id": "HP:0000612", + "label": "Iris coloboma" + } + }, + { + "type": { + "id": "HP:0000479", + "label": "Abnormal retinal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610202", + "label": "Cataract 21, multiple types" + } + } + ], + "metaData": { + "created": "2024-06-11T18:41:54.048301Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_22_multiple_types_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_22_multiple_types_patient_1.json new file mode 100644 index 000000000..c29c48be3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_22_multiple_types_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cataract_22,_multiple_types", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100018", + "label": "Nuclear cataract" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609741", + "label": "Cataract 22, multiple types" + } + } + ], + "metaData": { + "created": "2024-06-11T17:53:04.773272Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_23_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_23_patient_1.json new file mode 100644 index 000000000..dde26371d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_23_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "cataract_23", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100018", + "label": "Nuclear cataract" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610425", + "label": "Cataract 23" + } + } + ], + "metaData": { + "created": "2024-06-11T23:31:20.518224Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_2_multiple_types_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_2_multiple_types_patient_1.json new file mode 100644 index 000000000..58622f311 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_2_multiple_types_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cataract_2,_multiple_types", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010698", + "label": "Nuclear pulverulent cataract" + } + }, + { + "type": { + "id": "HP:0100018", + "label": "Nuclear cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604307", + "label": "Cataract 2, multiple types" + } + } + ], + "metaData": { + "created": "2024-06-11T18:32:15.399013Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_30_multiple_types_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_30_multiple_types_patient_1.json new file mode 100644 index 000000000..dbd405bb8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_30_multiple_types_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cataract_30,_multiple_types", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007657", + "label": "Diffuse nuclear cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:116300", + "label": "Cataract 30, multiple types" + } + } + ], + "metaData": { + "created": "2024-06-11T19:57:07.236585Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_31_multiple_types_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_31_multiple_types_patient_1.json new file mode 100644 index 000000000..13bdc0c2f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_31_multiple_types_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cataract_31,_multiple_types", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007787", + "label": "Posterior subcapsular cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605387", + "label": "Cataract 31, multiple types" + } + } + ], + "metaData": { + "created": "2024-06-11T17:59:04.775730Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_33_multiple_types_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_33_multiple_types_patient_1.json new file mode 100644 index 000000000..713db9387 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_33_multiple_types_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "cataract_33,_multiple_types", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100019", + "label": "Cortical cataract" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611391", + "label": "Cataract 33, multiple types" + } + } + ], + "metaData": { + "created": "2024-06-11T19:37:54.807921Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_35_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_35_patient_1.json new file mode 100644 index 000000000..1f68fcdc8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_35_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cataract_35", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609376", + "label": "Cataract 35" + } + } + ], + "metaData": { + "created": "2024-06-11T23:33:04.568359Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_3_multiple_types_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_3_multiple_types_patient_1.json new file mode 100644 index 000000000..e7eece602 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_3_multiple_types_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "cataract_3,_multiple_types", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010698", + "label": "Nuclear pulverulent cataract" + } + }, + { + "type": { + "id": "HP:0007976", + "label": "Cerulean cataract" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601547", + "label": "Cataract 3, multiple types" + } + } + ], + "metaData": { + "created": "2024-06-11T19:47:06.390289Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_42_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_42_patient_1.json new file mode 100644 index 000000000..6c3d57b27 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_42_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cataract_42", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0000519", + "label": "Developmental cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:115900", + "label": "Cataract 42" + } + } + ], + "metaData": { + "created": "2024-06-11T18:34:18.743521Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_43_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_43_patient_1.json new file mode 100644 index 000000000..56ebe63fb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_43_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "cataract_43", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P14Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007787", + "label": "Posterior subcapsular cataract" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616279", + "label": "Cataract 43" + } + } + ], + "metaData": { + "created": "2024-06-11T23:01:55.933226Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_44_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_44_patient_1.json new file mode 100644 index 000000000..17120813a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_44_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cataract_44", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000519", + "label": "Developmental cataract" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616509", + "label": "Cataract 44" + } + } + ], + "metaData": { + "created": "2024-06-11T23:10:58.420145Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_45_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_45_patient_1.json new file mode 100644 index 000000000..97e036fc7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_45_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cataract_45", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000519", + "label": "Developmental cataract" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616851", + "label": "Cataract 45" + } + } + ], + "metaData": { + "created": "2024-06-11T18:18:21.570360Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_46_juvenile_onset_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_46_juvenile_onset_patient_1.json new file mode 100644 index 000000000..fcb703c57 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_46_juvenile_onset_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "cataract_46,_juvenile-onset", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P26Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001118", + "label": "Juvenile cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:212500", + "label": "Cataract 46, juvenile-onset" + } + } + ], + "metaData": { + "created": "2024-06-11T22:09:23.244945Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_48_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_48_patient_1.json new file mode 100644 index 000000000..6eb41c08a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_48_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "cataract_48", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000646", + "label": "Amblyopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618415", + "label": "Cataract 48" + } + } + ], + "metaData": { + "created": "2024-06-11T20:56:48.757375Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_49_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_49_patient_1.json new file mode 100644 index 000000000..a54c23420 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_49_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cataract_49", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010924", + "label": "Posterior cortical cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619593", + "label": "Cataract 49" + } + } + ], + "metaData": { + "created": "2024-06-11T18:20:41.560037Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_50_with_or_without_glaucoma_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_50_with_or_without_glaucoma_patient_1.json new file mode 100644 index 000000000..417a81238 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_50_with_or_without_glaucoma_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cataract_50_with_or_without_glaucoma", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000501", + "label": "Glaucoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620253", + "label": "Cataract 50 with or without glaucoma" + } + } + ], + "metaData": { + "created": "2024-06-11T23:28:25.350343Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_7_patient_1.json new file mode 100644 index 000000000..8519abb26 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_7_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cataract_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:115660", + "label": "Cataract 7" + } + } + ], + "metaData": { + "created": "2024-06-11T22:50:39.926015Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_9_multiple_types_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_9_multiple_types_patient_1.json new file mode 100644 index 000000000..d22571944 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_9_multiple_types_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "cataract_9,_multiple_types", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000501", + "label": "Glaucoma" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0007811", + "label": "Horizontal pendular nystagmus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604219", + "label": "Cataract 9, multiple types" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:00.200606Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_Ataxia_Deafness_Retardation_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_Ataxia_Deafness_Retardation_syndrome_patient_1.json new file mode 100644 index 000000000..1d02ed272 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_Ataxia_Deafness_Retardation_syndrome_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "cataract-ataxia-deafness-retardation_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P77Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000519", + "label": "Developmental cataract" + } + }, + { + "type": { + "id": "HP:0002936", + "label": "Distal sensory impairment" + } + }, + { + "type": { + "id": "HP:0007221", + "label": "Progressive truncal ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:212710", + "label": "Cataract-Ataxia-Deafness-Retardation syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:23:59.359650Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_age_related_nuclear_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_age_related_nuclear_patient_1.json new file mode 100644 index 000000000..0e481480e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_age_related_nuclear_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cataract,_age-related_nuclear", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100018", + "label": "Nuclear cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601371", + "label": "Cataract, age-related nuclear" + } + } + ], + "metaData": { + "created": "2024-06-11T21:59:41.996972Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_and_congenital_ichthyosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_and_congenital_ichthyosis_patient_1.json new file mode 100644 index 000000000..8f792b755 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_and_congenital_ichthyosis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cataract_and_congenital_ichthyosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:212400", + "label": "Cataract and congenital ichthyosis" + } + } + ], + "metaData": { + "created": "2024-06-12T01:59:38.879766Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_anterior_polar_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_anterior_polar_1_patient_1.json new file mode 100644 index 000000000..e0300b989 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_anterior_polar_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cataract,_anterior_polar,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001134", + "label": "Anterior polar cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:115650", + "label": "Cataract, anterior polar, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:08:45.259189Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_anterior_polar_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_anterior_polar_2_patient_1.json new file mode 100644 index 000000000..0f1cfabbf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_anterior_polar_2_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "cataract,_anterior_polar,_2", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001134", + "label": "Anterior polar cataract" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601202", + "label": "Cataract, anterior polar, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:24:47.516237Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_ataxia_short_stature_and_mental_retardation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_ataxia_short_stature_and_mental_retardation_patient_1.json new file mode 100644 index 000000000..9c89a7051 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_ataxia_short_stature_and_mental_retardation_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "cataract,_ataxia,_short_stature,_and_mental_retardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0007787", + "label": "Posterior subcapsular cataract" + } + }, + { + "type": { + "id": "HP:0031374", + "label": "Ankle weakness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300619", + "label": "Cataract, ataxia, short stature, and mental retardation" + } + } + ], + "metaData": { + "created": "2024-06-11T18:25:43.818369Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_autosomal_dominant_multiple_types_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_autosomal_dominant_multiple_types_1_patient_1.json new file mode 100644 index 000000000..5dea1dcc5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_autosomal_dominant_multiple_types_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cataract,_autosomal_dominant,_multiple_types_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007834", + "label": "Progressive cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611597", + "label": "Cataract, autosomal dominant, multiple types 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:40:11.030785Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_autosomal_recessive_congenital_4_patient_1.json new file mode 100644 index 000000000..efd8edb07 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_autosomal_recessive_congenital_4_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cataract,_autosomal_recessive_congenital_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613887", + "label": "Cataract, autosomal recessive congenital 4" + } + } + ], + "metaData": { + "created": "2024-06-11T23:54:59.926266Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_congenital_Volkmann_type_patient_1.json new file mode 100644 index 000000000..4917c3498 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_congenital_Volkmann_type_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "cataract,_congenital,_volkmann_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010920", + "label": "Zonular cataract" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000572", + "label": "Visual loss" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:115665", + "label": "Cataract, congenital, Volkmann type" + } + } + ], + "metaData": { + "created": "2024-06-12T01:07:16.011517Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_congenital_total_with_posterior_sutural_opacities_in_heterozygotes_patient_1.json new file mode 100644 index 000000000..7d3c61d49 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_congenital_total_with_posterior_sutural_opacities_in_heterozygotes_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cataract,_congenital_total,_with_posterior_sutural_opacities_in_heterozygotes", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010695", + "label": "Sutural cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:302200", + "label": "Cataract, congenital total, with posterior sutural opacities in heterozygotes" + } + } + ], + "metaData": { + "created": "2024-06-11T23:53:26.601010Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_crystalline_aculeiform_patient_1.json new file mode 100644 index 000000000..ed7638e50 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_crystalline_aculeiform_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cataract,_crystalline_aculeiform", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000519", + "label": "Developmental cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:115700", + "label": "Cataract, crystalline aculeiform" + } + } + ], + "metaData": { + "created": "2024-06-11T22:40:48.090195Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_juvenile_with_microcornea_and_glucosuria_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "cataract,_juvenile,_with_microcornea_and_glucosuria", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P14Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000482", + "label": "Microcornea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612018", + "label": "Cataract, juvenile, with microcornea and glucosuria" + } + } + ], + "metaData": { + "created": "2024-06-11T23:32:20.146938Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", 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"patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007971", + "label": "Lamellar cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615188", + "label": "Cataract, multiple types" + } + } + ], + "metaData": { + "created": "2024-06-11T22:49:15.606850Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_nuclear_total_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_nuclear_total_patient_1.json new file mode 100644 index 000000000..447024970 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_nuclear_total_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cataract,_nuclear_total", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100018", + "label": "Nuclear cataract" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:116400", + "label": "Cataract, nuclear total" + } + } + ], + "metaData": { + "created": "2024-06-11T18:41:11.817556Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_posterior_polar_1_ctpa_cataract_congenital_total_included_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_posterior_polar_1_ctpa_cataract_congenital_total_included_patient_1.json new file mode 100644 index 000000000..98ab2109f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_posterior_polar_1_ctpa_cataract_congenital_total_included_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cataract,_posterior_polar,_1_ctpa_cataract,_congenital_total,_included", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001115", + "label": "Posterior polar cataract" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:116600", + "label": "Cataract, posterior polar, 1 ctpa cataract, congenital total, included" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:30.996335Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_zonular_pulverulent_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_zonular_pulverulent_3_patient_1.json new file mode 100644 index 000000000..16a311f69 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataract_zonular_pulverulent_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cataract,_zonular_pulverulent_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010920", + "label": "Zonular cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601885", + "label": "Cataract, zonular pulverulent 3" + } + } + ], + "metaData": { + "created": "2024-06-12T00:49:54.869157Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataracts_growth_hormone_deficiency_sensory_neuropathy_sensorineural_hearing_loss_and_skeletal_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataracts_growth_hormone_deficiency_sensory_neuropathy_sensorineural_hearing_loss_and_skeletal_dysplasia_patient_1.json new file mode 100644 index 000000000..fce125984 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataracts_growth_hormone_deficiency_sensory_neuropathy_sensorineural_hearing_loss_and_skeletal_dysplasia_patient_1.json @@ -0,0 +1,315 @@ +{ + "id": "cataracts,_growth_hormone_deficiency,_sensory_neuropathy,_sensorineural_hearing_loss,_and_skeletal_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001943", + "label": "Hypoglycemia" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0001097", + "label": "Keratoconjunctivitis sicca" + } + }, + { + "type": { + "id": "HP:0000763", + "label": "Sensory neuropathy" + } + }, + { + "type": { + "id": "HP:0001182", + "label": "Tapered finger" + } + }, + { + "type": { + "id": "HP:0000938", + "label": "Osteopenia" + } + }, + { + "type": { + "id": "HP:0003416", + "label": "Spinal canal stenosis" + } + }, + { + "type": { + "id": "HP:0000490", + "label": "Deeply set eye" + } + }, + { + "type": { + "id": "HP:0002571", + "label": "Achalasia" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0001763", + "label": "Pes planus" + } + 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"type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0005773", + "label": "Short forearm" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0031767", + "label": "Consecutive esotropia" + } + }, + { + "type": { + "id": "HP:0011314", + "label": "Abnormal long bone morphology" + } + }, + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + } + }, + { + "type": { + "id": "HP:0008780", + "label": "Congenital bilateral hip dislocation" + } + }, + { + "type": { + "id": "HP:0002521", + "label": "Hypsarrhythmia" + } + }, + { + "type": { + "id": "HP:0002938", + "label": "Lumbar hyperlordosis" + } + }, + { + "type": { + "id": "HP:0003840", + "label": "Delayed upper limb epiphyseal ossification" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616007", + "label": "Cataracts, growth hormone deficiency, sensory neuropathy, 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mode 100644 index 000000000..7f1dc0d4f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataracts_hearing_impairment_nephrotic_syndrome_and_enterocolitis_1_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "cataracts,_hearing_impairment,_nephrotic_syndrome,_and_enterocolitis_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0000100", + "label": "Nephrotic syndrome" + } + }, + { + "type": { + "id": "HP:0004387", + "label": "Enterocolitis" + } + }, + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0005528", + "label": "Bone marrow hypocellularity" + } + }, + { + "type": { + "id": "HP:0000962", + "label": "Hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0000327", + "label": "Hypoplasia of the maxilla" + } + }, + { + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataracts_hearing_impairment_nephrotic_syndrome_and_enterocolitis_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataracts_hearing_impairment_nephrotic_syndrome_and_enterocolitis_2_patient_1.json new file mode 100644 index 000000000..7e82869ee --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataracts_hearing_impairment_nephrotic_syndrome_and_enterocolitis_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cataracts,_hearing_impairment,_nephrotic_syndrome,_and_enterocolitis_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000097", + "label": "Focal segmental glomerulosclerosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620425", + "label": "Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:28:13.336989Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataracts_spastic_paraparesis_and_speech_delay_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataracts_spastic_paraparesis_and_speech_delay_patient_1.json new file mode 100644 index 000000000..b948060e5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cataracts_spastic_paraparesis_and_speech_delay_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "cataracts,_spastic_paraparesis,_and_speech_delay", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0012450", + "label": "Chronic constipation" + } + }, + { + "type": { + "id": "HP:0031936", + "label": "Delayed ability to walk" + } + }, + { + "type": { + "id": "HP:0002069", + "label": "Bilateral tonic-clonic seizure" + } + }, + { + "type": { + "id": "HP:0011442", + "label": "Abnormal central motor function" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619338", + "label": "Cataracts, spastic paraparesis, and speech delay" + } + } + ], + "metaData": { + "created": "2024-06-11T21:51:45.742910Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Catel_Manzke_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Catel_Manzke_syndrome_patient_1.json new file mode 100644 index 000000000..a20da4084 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Catel_Manzke_syndrome_patient_1.json @@ -0,0 +1,207 @@ +{ + "id": "catel-manzke_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000201", + "label": "Pierre-Robin sequence" + } + }, + { + "type": { + "id": "HP:0000204", + "label": "Cleft upper lip" + } + }, + { + "type": { + "id": "HP:0000768", 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Celiac_disease_susceptibility_to_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Celiac_disease_susceptibility_to_1_patient_1.json new file mode 100644 index 000000000..7a40df78d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Celiac_disease_susceptibility_to_1_patient_1.json @@ -0,0 +1,165 @@ +{ + "id": "celiac_disease,_susceptibility_to,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002027", + "label": "Abdominal pain" + } + }, + { + "type": { + "id": "HP:0100512", + "label": "Decreased circulating vitamin D concentration" + } + }, + { + "type": { + "id": "HP:0000964", + "label": "Eczematoid dermatitis" + } + }, + { + "type": { + "id": "HP:0002720", + "label": "Decreased circulating IgA level" + } + }, + { + "type": { + "id": "HP:0000789", + "label": "Infertility" + } + }, + { + "type": { + "id": "HP:0004298", + "label": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Central_hypoventilation_syndrome_congenital_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Central_hypoventilation_syndrome_congenital_3_patient_1.json new file mode 100644 index 000000000..f5898fda9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Central_hypoventilation_syndrome_congenital_3_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "central_hypoventilation_syndrome,_congenital,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002046", + "label": "Heat intolerance" + } + }, + { + "type": { + "id": "HP:0000875", + "label": "Episodic hypertension" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0007110", + "label": "Central hypoventilation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619483", + "label": "Central hypoventilation syndrome, congenital, 3" + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Central_incisors_absence_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "central_incisors,_absence_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006289", + "label": "Agenesis of central incisor" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:302400", + "label": "Central incisors, absence of" + } + } + ], + "metaData": { + "created": "2024-06-11T22:54:36.984681Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Centralopathic_epilepsy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Centralopathic_epilepsy_patient_1.json new file mode 100644 index 000000000..993fc513f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Centralopathic_epilepsy_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "centralopathic_epilepsy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012557", + "label": "EEG with centrotemporal focal spike waves" + } + }, + { + "type": { + "id": "HP:0031951", + "label": "Nocturnal seizures" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:117100", + "label": "Centralopathic epilepsy" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:07.547008Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebellar_ataxia_and_hypogonadotropic_hypogonadism_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebellar_ataxia_and_hypogonadotropic_hypogonadism_patient_1.json new file mode 100644 index 000000000..96f8023e0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebellar_ataxia_and_hypogonadotropic_hypogonadism_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "cerebellar_ataxia_and_hypogonadotropic_hypogonadism", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008197", + "label": "Absence of pubertal development" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0000869", + "label": "Secondary amenorrhea" + } + }, + { + "type": { + "id": "HP:0000876", + "label": "Oligomenorrhea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:212840", + "label": 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{ + "type": { + "id": "HP:0001321", + "label": "Cerebellar hypoplasia" + } + }, + { + "type": { + "id": "HP:0001337", + "label": "Tremor" + } + }, + { + "type": { + "id": "HP:0011172", + "label": "Complex febrile seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:213000", + "label": "Cerebellar hypoplasia/atrophy, epilepsy, and global developmental delay" + } + } + ], + "metaData": { + "created": "2024-06-11T20:03:42.233457Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebellar_ocular_craniofacial_and_genital_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebellar_ocular_craniofacial_and_genital_syndrome_patient_1.json new file mode 100644 index 000000000..54205e8a3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebellar_ocular_craniofacial_and_genital_syndrome_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "cerebellar,_ocular,_craniofacial,_and_genital_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + }, + { + "type": { + "id": "HP:0008707", + "label": "Absent scrotum" + } + }, + { + "type": { + "id": "HP:0011344", + "label": "Severe global developmental delay" + } + }, + { + "type": { + "id": "HP:0000549", + "label": "Abnormal conjugate eye movement" + } + }, + { + "type": { + "id": "HP:0000294", + "label": "Low anterior hairline" + } + }, + { + "type": { + "id": "HP:0000664", + "label": "Synophrys" + } + }, + { + "type": { + "id": "HP:0000557", + "label": "Buphthalmos" + } + }, + { + "type": { + "id": "HP:0006955", + "label": "Olivopontocerebellar hypoplasia" + } + }, + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618479", + "label": "Cerebellar, ocular, craniofacial, and genital syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:23:46.505065Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebellar_vermis_aplasia_with_associated_features_suggesting_smith_lemli_opitzsyndrome_and_meckel_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cerebellar_vermis_aplasia_with_associated_features_suggesting_smith-lemli-opitzsyndrome_and_meckel_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001405", + "label": "Periportal fibrosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:213010", + "label": "Cerebellar vermis aplasia with associated features suggesting smith-lemli-opitzsyndrome and meckel syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:23:04.812658Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, 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+ } + }, + { + "type": { + "id": "HP:0000679", + "label": "Taurodontia" + } + }, + { + "type": { + "id": "HP:0001182", + "label": "Tapered finger" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0034259", + "label": "Hypoplasia of the midbrain" + } + }, + { + "type": { + "id": "HP:0010952", + "label": "Mild fetal ventriculomegaly" + } + }, + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0000357", + "label": "Abnormal location of ears" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0025325", + "label": "Sparse medial eyebrow" + } + }, + { + "type": { + "id": "HP:0009102", + "label": "Anterior open-bite malocclusion" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616202", + "label": "Cerebellofaciodental syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:58:28.499976Z", + "createdBy": 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"cerebral_amyloid_angiopathy,_app-related", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002326", + "label": "Transient ischemic attack" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605714", + "label": "Cerebral amyloid angiopathy, APP-related" + } + } + ], + "metaData": { + "created": "2024-06-11T21:28:41.037553Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_amyloid_angiopathy_itm2b_related_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_amyloid_angiopathy_itm2b_related_1_patient_1.json new file mode 100644 index 000000000..706bec16b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_amyloid_angiopathy_itm2b_related_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cerebral_amyloid_angiopathy,_itm2b-related,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002063", + "label": "Rigidity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:176500", + "label": "Cerebral amyloid angiopathy, itm2b-related, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:28:01.471555Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"id": "HP:0000707", + "label": "Abnormality of the nervous system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:213500", + "label": "Cerebral angiopathy, dysphoric" + } + } + ], + "metaData": { + "created": "2024-06-11T19:09:35.300503Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarcts_and_leukoencephalopathy_type_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarcts_and_leukoencephalopathy_type_2_patient_1.json new file mode 100644 index 000000000..7eaca115b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarcts_and_leukoencephalopathy_type_2_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "cerebral_arteriopathy,_autosomal_dominant,_with_subcortical_infarcts_and_leukoencephalopathy,_type_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0025192", + "label": "Subtentorial periventricular white matter hyperdensity" + } + }, + { + "type": { + "id": "HP:0025012", + "label": "Status cribrosum" + } + }, + { + "type": { + "id": "HP:0032570", + "label": "Pontine ischemic lacunes" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616779", + "label": "Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:51:03.687115Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarctsand_leukoencephalopathy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarctsand_leukoencephalopathy_patient_1.json new file mode 100644 index 000000000..51f5cc44b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_arteriopathy_autosomal_dominant_with_subcortical_infarctsand_leukoencephalopathy_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "cerebral_arteriopathy,_autosomal_dominant,_with_subcortical_infarctsand_leukoencephalopathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000726", + "label": "Dementia" + } + }, + { + "type": { + "id": "HP:0002354", + "label": "Memory impairment" + } + }, + { + "type": { + "id": "HP:0100659", + "label": "Abnormal cerebral vascular morphology" + } + }, + { + "type": { + "id": "HP:0000726", + "label": "Dementia" + } + }, + { + "type": { + "id": "HP:0010549", + "label": "Weakness due to upper motor neuron dysfunction" + } + }, + { + "type": { + "id": "HP:5200275", + "label": "Abnormal motivation" + } + }, + { + "type": { + "id": "HP:0000709", + "label": "Psychosis" + } + }, + { + "type": { + "id": "HP:0006943", + "label": "Diffuse spongiform leukoencephalopathy" + } + }, + { + "type": { + "id": "HP:0031466", + "label": "Impairment in personality functioning" + } + }, + { + "type": { + "id": "HP:0002077", + "label": "Migraine with aura" + } + }, + { + "type": { + "id": "HP:0007236", + "label": "Recurrent subcortical infarcts" + } + }, + { + "type": { + "id": "HP:0006949", + "label": "Episodic peripheral neuropathy" + } + }, + { + "type": { + "id": "HP:0012443", + "label": "Abnormal brain morphology" + } + }, + { + "type": { + "id": "HP:5200269", + "label": "Abnormal thought pattern" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125310", + "label": "Cerebral arteriopathy, autosomal dominant, with subcortical infarctsand leukoencephalopathy" + } + } + ], + "metaData": { + "created": "2024-06-11T21:32:39.363294Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_cavernous_malformations_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_cavernous_malformations_1_patient_1.json new file mode 100644 index 000000000..6b0c94b0e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_cavernous_malformations_1_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "cerebral_cavernous_malformations_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000951", + "label": "Abnormality of the skin" + } + }, + { + "type": { + "id": "HP:0011513", + "label": "Retinal cavernous hemangioma" + } + }, + { + "type": { + "id": "HP:0003011", + "label": "Abnormality of the musculature" + } + }, + { + "type": { + "id": "HP:0006576", + "label": "Hepatic vascular malformations" + } + }, + { + "type": { + "id": "HP:0012199", + "label": "Cluster headache" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:116860", + "label": "Cerebral cavernous malformations 1" + } + } + ], + "metaData": { + "created": 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@@ -0,0 +1,57 @@ +{ + "id": "cerebral_cavernous_malformations_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001342", + "label": "Cerebral hemorrhage" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0033522", + "label": "Cerebral cavernous malformation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603284", + "label": "Cerebral cavernous malformations 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:18:06.084891Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_cavernous_malformations_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_cavernous_malformations_3_patient_1.json new file mode 100644 index 000000000..78615db66 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_cavernous_malformations_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cerebral_cavernous_malformations_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001342", + "label": "Cerebral hemorrhage" + } + }, + { + "type": { + "id": "HP:0001048", + "label": "Cavernous hemangioma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603285", + "label": "Cerebral cavernous malformations 3" + } + } + ], + "metaData": { + "created": "2024-06-11T18:19:13.227046Z", + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_creatine_deficiency_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_creatine_deficiency_syndrome_1_patient_1.json new file mode 100644 index 000000000..be0558837 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_creatine_deficiency_syndrome_1_patient_1.json @@ -0,0 +1,231 @@ +{ + "id": "cerebral_creatine_deficiency_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0002079", + "label": "Hypoplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0000275", + "label": "Narrow face" + } + }, + { + "type": { + "id": "HP:0008583", + "label": "Underfolded superior helices" + } + }, + { + "type": { + "id": "HP:0001252", + "label": 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--git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_creatine_deficiency_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_creatine_deficiency_syndrome_2_patient_1.json new file mode 100644 index 000000000..29d790845 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_creatine_deficiency_syndrome_2_patient_1.json @@ -0,0 +1,122 @@ +{ + "id": "cerebral_creatine_deficiency_syndrome_2", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0008947", + "label": "Infantile muscular hypotonia" + } + }, + { + "type": { + "id": "HP:0002572", + "label": "Episodic vomiting" + } + }, + { + "type": { + "id": "HP:0011344", + "label": "Severe global developmental 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"label": "Dysarthria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605388", + "label": "Cerebral palsy, ataxic, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T23:45:47.224679Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_palsy_spastic_quadriplegic_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_palsy_spastic_quadriplegic_2_patient_1.json new file mode 100644 index 000000000..c51ed433a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_palsy_spastic_quadriplegic_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cerebral_palsy,_spastic_quadriplegic,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100021", + "label": "Cerebral palsy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612900", + "label": "Cerebral palsy, spastic quadriplegic, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:07:27.225786Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_sclerosis_similar_to_pelizaeus_merzbacher_disease_patient_1.json new file mode 100644 index 000000000..161846409 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebral_sclerosis_similar_to_pelizaeus_merzbacher_disease_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cerebral_sclerosis_similar_to_pelizaeus-merzbacher_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000707", + "label": "Abnormality of the nervous system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:213900", + "label": "Cerebral sclerosis similar to pelizaeus-merzbacher disease" + } + } + ], + "metaData": { + "created": "2024-06-11T23:00:03.013918Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebrooculofacioskeletal_syndrome_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebrooculofacioskeletal_syndrome_3_patient_1.json new file mode 100644 index 000000000..d050db428 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cerebrooculofacioskeletal_syndrome_3_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "cerebrooculofacioskeletal_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000992", + "label": "Cutaneous photosensitivity" + } + }, + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + } + }, + { + "type": { + "id": "HP:0002804", + "label": "Arthrogryposis multiplex congenita" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000252", + "label": 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"hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ceroid_lipofuscinosis_neuronal_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ceroid_lipofuscinosis_neuronal_9_patient_1.json new file mode 100644 index 000000000..c86f9a478 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ceroid_lipofuscinosis_neuronal_9_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "ceroid_lipofuscinosis,_neuronal,_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002063", + "label": "Rigidity" + } + }, + { + "type": { + "id": "HP:0002464", + "label": "Spastic dysarthria" + } + }, + { + "type": { + "id": "HP:0001881", + "label": "Abnormal leukocyte morphology" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0025354", + "label": "Abnormal cellular phenotype" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609055", + "label": "Ceroid lipofuscinosis, neuronal, 9" + } + } + ], + "metaData": { + "created": "2024-06-11T20:50:16.517242Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ceroid_storage_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ceroid_storage_disease_patient_1.json new file mode 100644 index 000000000..2a9a58d6f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ceroid_storage_disease_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ceroid_storage_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001399", + "label": "Hepatic failure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:214200", + "label": "Ceroid storage disease" + } + } + ], + "metaData": { + "created": "2024-06-11T21:13:39.225460Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cervical_cancer_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cervical_cancer_patient_1.json new file mode 100644 index 000000000..63be9d0ba --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cervical_cancer_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cervical_cancer", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002664", + "label": "Neoplasm" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603956", + "label": "Cervical cancer" + } + } + ], + "metaData": { + "created": "2024-06-11T22:06:16.588166Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cervical_hypertrichosis_with_underlying_kyphoscoliosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cervical_hypertrichosis_with_underlying_kyphoscoliosis_patient_1.json new file mode 100644 index 000000000..fc1197b5e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cervical_hypertrichosis_with_underlying_kyphoscoliosis_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cervical_hypertrichosis_with_underlying_kyphoscoliosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011914", + "label": "Thoracic hypertrichosis" + } + }, + { + "type": { + "id": "HP:0003423", + "label": "Thoracolumbar kyphoscoliosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:117850", + "label": "Cervical hypertrichosis with underlying kyphoscoliosis" + } + } + ], + "metaData": { + "created": "2024-06-11T23:31:33.451295Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cervical_rib_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cervical_rib_patient_1.json new file mode 100644 index 000000000..20c378f0d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cervical_rib_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cervical_rib", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000707", + "label": "Abnormality of the nervous system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:117900", + "label": "Cervical rib" + } + } + ], + "metaData": { + "created": "2024-06-11T18:18:21.565883Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cervical_ribs_sprengel_anomaly_anal_atresia_and_urethral_obstruction_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cervical_ribs_sprengel_anomaly_anal_atresia_and_urethral_obstruction_patient_1.json new file mode 100644 index 000000000..4ada62a84 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cervical_ribs_sprengel_anomaly_anal_atresia_and_urethral_obstruction_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "cervical_ribs,_sprengel_anomaly,_anal_atresia,_and_urethral_obstruction", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000089", + "label": "Renal hypoplasia" + } + }, + { + "type": { + "id": "HP:0025487", + "label": "Abnormal bladder morphology" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0004392", + "label": "Prune belly" + } + }, + { + "type": { + "id": "HP:0002023", + "label": "Anal atresia" + } + }, + { + "type": { + "id": "HP:0000912", + "label": "Sprengel anomaly" + } + }, + { + "type": { + "id": "HP:0002960", + "label": "Autoimmunity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601389", + "label": "Cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction" + } + } + ], + "metaData": { + "created": "2024-06-11T21:15:37.045577Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cervical_vertebrae_agenesis_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cervical_vertebrae_agenesis_of_patient_1.json new file mode 100644 index 000000000..dbc7b69b8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cervical_vertebrae_agenesis_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cervical_vertebrae,_agenesis_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000464", + "label": "Abnormality of the neck" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:214290", + "label": "Cervical vertebrae, agenesis of" + } + } + ], + "metaData": { + "created": "2024-06-11T19:08:28.828529Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cervical_vertebral_bridge_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cervical_vertebral_bridge_patient_1.json new file mode 100644 index 000000000..853a2867a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cervical_vertebral_bridge_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cervical_vertebral_bridge", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000925", + "label": "Abnormality of the vertebral column" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:118000", + "label": "Cervical vertebral bridge" + } + } + ], + "metaData": { + "created": "2024-06-11T18:52:50.171257Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cervical_vertebral_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cervical_vertebral_dysplasia_patient_1.json new file mode 100644 index 000000000..02ba79f8b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cervical_vertebral_dysplasia_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cervical_vertebral_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005678", + "label": "Anterior atlanto-occipital dislocation" + } + }, + { + "type": { + "id": "HP:0008469", + "label": "Cervical vertebral dysplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:118005", + "label": "Cervical vertebral dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:28:11.548480Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Chanarin_Dorfman_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chanarin_Dorfman_syndrome_patient_1.json new file mode 100644 index 000000000..47730e884 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chanarin_Dorfman_syndrome_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "chanarin-dorfman_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0001324", + "label": "Muscle weakness" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:275630", + "label": "Chanarin-Dorfman syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:54:17.049700Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Char_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Char_syndrome_patient_1.json new file mode 100644 index 000000000..ecfa41544 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Char_syndrome_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "char_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0004209", + "label": "Clinodactyly of the 5th finger" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0000411", + "label": "Protruding ear" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0000455", + "label": "Broad nasal tip" + } + }, + { + "type": { + "id": "HP:0009244", + "label": "Distal/middle symphalangism of 5th finger" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:169100", + "label": "Char syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:58:02.979533Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_X_linked_dominant_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_X_linked_dominant_6_patient_1.json new file mode 100644 index 000000000..98e0712f9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_X_linked_dominant_6_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "charcot-marie-tooth_disease,_x-linked_dominant,_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0008954", + "label": "Intrinsic hand muscle atrophy" + } + }, + { + "type": { + "id": "HP:0006938", + "label": "Impaired vibration sensation at ankles" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0003438", + "label": "Absent Achilles reflex" + } + }, + { + "type": { + "id": "HP:0007328", + "label": "Impaired pain sensation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300905", + "label": "Charcot-Marie-Tooth disease, X-linked dominant, 6" + } + } + ], + "metaData": { + "created": "2024-06-11T20:22:17.711397Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_axonal_type_2L_patient_1.json new file mode 100644 index 000000000..65d3951b9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_axonal_type_2L_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "charcot-marie-tooth_disease,_axonal,_type_2l", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007078", + "label": "Decreased amplitude of sensory action potentials" + } + }, + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608673", + "label": "Charcot-Marie-Tooth disease, axonal, type 2L" + } + } + ], + "metaData": { + "created": "2024-06-11T18:38:36.600367Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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+ }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009027", + "label": "Foot dorsiflexor weakness" + } + }, + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" + } + }, + { + "type": { + "id": "HP:0008944", + "label": "Distal lower limb amyotrophy" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0002460", + "label": "Distal muscle weakness" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0031004", + "label": "Hemiareflexia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613287", + "label": "Charcot-Marie-Tooth disease, axonal, type 2N" + } + } + ], + "metaData": { + "created": "2024-06-11T19:05:36.551773Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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"namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_axonal_type_2Q_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_axonal_type_2Q_patient_1.json new file mode 100644 index 000000000..d04db1744 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_axonal_type_2Q_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "charcot-marie-tooth_disease,_axonal,_type_2q", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001265", + "label": "Hyporeflexia" + } + }, + { + "type": { + "id": "HP:0006937", + "label": "Impaired distal tactile sensation" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0003697", + "label": "Scapuloperoneal amyotrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615025", + "label": "Charcot-Marie-Tooth disease, axonal, type 2Q" + } + } + ], + "metaData": { + "created": "2024-06-11T18:52:58.959134Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_axonal_type_2R_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_axonal_type_2R_patient_1.json new file mode 100644 index 000000000..1d47d2826 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_axonal_type_2R_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "charcot-marie-tooth_disease,_axonal,_type_2r", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001605", + "label": "Vocal cord paralysis" + } + }, + { + "type": { + "id": "HP:0002093", + "label": "Respiratory insufficiency" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0001284", + "label": "Areflexia" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + }, + { + "type": { + "id": "HP:0031936", + "label": "Delayed ability to walk" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615490", + "label": "Charcot-Marie-Tooth disease, axonal, type 2R" + } + } + ], + "metaData": { + "created": "2024-06-11T20:00:23.281319Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_axonal_type_2S_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_axonal_type_2S_patient_1.json new file mode 100644 index 000000000..b2c56ef81 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_axonal_type_2S_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "charcot-marie-tooth_disease,_axonal,_type_2s", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034052", + "label": "Impaired toe-walking ability" + } + }, + { + "type": { + "id": "HP:0012046", + "label": "Areflexia of upper limbs" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0003438", + "label": "Absent Achilles reflex" + } + }, + { + "type": { + "id": "HP:0012473", + "label": "Tongue atrophy" + } + }, + { + "type": { + "id": "HP:0003690", + "label": "Limb muscle weakness" + } + }, + { + "type": { + "id": "HP:0003690", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_axonal_type_2T_patient_1.json new file mode 100644 index 000000000..ef3352132 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_axonal_type_2T_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "charcot-marie-tooth_disease,_axonal,_type_2t", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006962", + "label": "Gait instability, worse in the dark" + } + }, + { + "type": { + "id": "HP:0011399", + "label": "Tibialis anterior muscle atrophy" + } + }, + { + "type": { + "id": "HP:0011727", + "label": "Peroneal muscle weakness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617017", + "label": "Charcot-Marie-Tooth disease, axonal, type 2T" + } + } + ], + "metaData": { + "created": "2024-06-12T00:32:14.732621Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_axonal_type_2V_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_axonal_type_2V_patient_1.json new file mode 100644 index 000000000..7c81c74ea --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_axonal_type_2V_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "charcot-marie-tooth_disease,_axonal,_type_2v", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012514", + "label": "Lower limb pain" + } + }, + { + "type": { + "id": "HP:0002360", + "label": "Sleep abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616491", + "label": "Charcot-Marie-Tooth disease, axonal, type 2V" + } + } + ], + "metaData": { + "created": "2024-06-12T01:59:38.895451Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_axonal_type_2Y_patient_1.json new file mode 100644 index 000000000..d35b773d4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_axonal_type_2Y_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "charcot-marie-tooth_disease,_axonal,_type_2y", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006938", + "label": "Impaired vibration sensation at ankles" + } + }, + { + "type": { + "id": "HP:0200101", + "label": "Decreased/absent ankle reflexes" + } + }, + { + "type": { + "id": "HP:0000762", + "label": "Decreased nerve conduction velocity" + } + }, + { + "type": { + "id": "HP:0009053", + "label": "Distal lower limb muscle weakness" + } + }, + { + "type": { + "id": "HP:0009005", + "label": "Weakness of the intrinsic hand muscles" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_axonal_type_2Z_patient_1.json new file mode 100644 index 000000000..c3fb27ad8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_axonal_type_2Z_patient_1.json @@ -0,0 +1,177 @@ +{ + "id": "charcot-marie-tooth_disease,_axonal,_type_2z", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001620", + "label": "High pitched voice" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0000020", + "label": "Urinary incontinence" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0003394", + "label": "Muscle spasm" + } + }, + { + "type": { + "id": "HP:0006858", + "label": "Impaired distal proprioception" + } + }, + { + "type": { + "id": "HP:0012392", + "label": "Jaw hyporeflexia" + } + }, + { + "type": { + 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100644 index 000000000..aa44d9fd6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_demyelinating_type_1D_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "charcot-marie-tooth_disease,_demyelinating,_type_1d", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003431", + "label": "Decreased motor nerve conduction velocity" + } + }, + { + "type": { + "id": "HP:0009830", + "label": "Peripheral neuropathy" + } + }, + { + "type": { + "id": "HP:0003376", + "label": "Steppage gait" + } + }, + { + "type": { + "id": "HP:0002460", + "label": "Distal muscle weakness" + } + }, + { + "type": { + "id": "HP:0009027", + "label": "Foot dorsiflexor weakness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607678", + "label": "Charcot-Marie-Tooth disease, demyelinating, type 1D" + } + } + ], + "metaData": { + "created": "2024-06-11T19:46:39.885219Z", + "createdBy": "phenotype2phenopacket", + "resources": [ 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+ } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_demyelinating_type_1J_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_demyelinating_type_1J_patient_1.json new file mode 100644 index 000000000..f41773f6b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_demyelinating_type_1J_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "charcot-marie-tooth_disease,_demyelinating,_type_1j", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0009830", + "label": "Peripheral neuropathy" + } + }, + { + "type": { + "id": "HP:0002936", + "label": "Distal sensory impairment" + } + }, + { + "type": { + "id": "HP:0002522", + "label": "Areflexia of lower limbs" + } + } + ], + "diseases": [ + { + "term": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_dominant_intermediate_D_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "charcot-marie-tooth_disease,_dominant_intermediate_d", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003378", + "label": "Axonal degeneration/regeneration" + } + }, + { + "type": { + "id": "HP:0007181", + "label": "Interosseus muscle atrophy" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607791", + "label": "Charcot-Marie-Tooth disease, dominant intermediate D" + } + } + ], + "metaData": { + "created": "2024-06-11T18:18:34.721830Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_dominant_intermediate_F_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_dominant_intermediate_F_patient_1.json new file mode 100644 index 000000000..26f7e5a90 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_dominant_intermediate_F_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "charcot-marie-tooth_disease,_dominant_intermediate_f", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001765", + "label": "Hammertoe" + } + }, + { + "type": { + "id": "HP:0003438", + "label": "Absent Achilles reflex" + } + }, + { + "type": { + "id": "HP:0003481", + "label": "Segmental peripheral demyelination/remyelination" + } + }, + { + "type": { + "id": "HP:0003130", + "label": "Abnormal peripheral 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_dominant_intermediate_G_patient_1.json new file mode 100644 index 000000000..ed7ddf59e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_dominant_intermediate_G_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "charcot-marie-tooth_disease,_dominant_intermediate_g", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011727", + "label": "Peroneal muscle weakness" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0002515", + "label": "Waddling gait" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0001315", + "label": "Reduced tendon reflexes" + } + } + ], + "diseases": [ + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_recessive_intermediate_A_patient_1.json new file mode 100644 index 000000000..03c3a50c5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_recessive_intermediate_A_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "charcot-marie-tooth_disease,_recessive_intermediate_a", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003383", + "label": "Onion bulb formation" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0009830", + "label": "Peripheral neuropathy" + } + }, + { + "type": { + "id": "HP:0011096", + "label": "Peripheral demyelination" + } + }, + { + "type": { + "id": "HP:0003484", + "label": "Upper limb muscle weakness" + } + }, + { + "type": { + "id": "HP:0003445", + "label": "EMG: neuropathic changes" + } + }, + { + "type": { + "id": "HP:0001315", 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"namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_recessive_intermediate_D_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_recessive_intermediate_D_patient_1.json new file mode 100644 index 000000000..fea2972f2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_recessive_intermediate_D_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "charcot-marie-tooth_disease,_recessive_intermediate_d", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003690", + "label": "Limb muscle weakness" + } + }, + { + "type": { + "id": "HP:0003400", + "label": "Basal lamina onion bulb formation" + } + }, + { + "type": { + "id": "HP:0006858", + "label": "Impaired distal proprioception" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616039", + "label": "Charcot-Marie-Tooth disease, recessive intermediate D" + } + } + ], + "metaData": { + "created": "2024-06-11T19:44:07.117621Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_type_1B_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_type_1B_patient_1.json new file mode 100644 index 000000000..0586302c7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_type_1B_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "charcot-marie-tooth_disease,_type_1b", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003693", + "label": "Distal amyotrophy" + } + }, + { + "type": { + "id": "HP:0001765", + "label": "Hammertoe" + } + }, + { + "type": { + "id": "HP:0012074", + "label": "Tonic pupil" + } + }, + { + "type": { + "id": "HP:0009830", + "label": "Peripheral neuropathy" + } + }, + { + "type": { + "id": "HP:0001178", + "label": "Ulnar claw" + } + }, + { + "type": { + "id": "HP:0003383", + "label": "Onion bulb formation" + } + }, + { + "type": { + "id": "HP:0009027", + "label": "Foot dorsiflexor weakness" + } + }, + { + "type": { + "id": "HP:0002460", + "label": "Distal muscle weakness" + } + }, + { + "type": { + "id": "HP:0003484", + "label": "Upper limb muscle weakness" + } + }, + { + "type": { + "id": "HP:0003431", + "label": "Decreased motor nerve conduction velocity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:118200", + "label": "Charcot-Marie-Tooth disease, type 1B" + } + } + ], + "metaData": { + "created": "2024-06-11T18:57:25.273672Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_type_2J_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_type_2J_patient_1.json new file mode 100644 index 000000000..2d98bedc9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_type_2J_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "charcot-marie-tooth_disease,_type_2j", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P40Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001265", + "label": "Hyporeflexia" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0009027", + "label": "Foot dorsiflexor weakness" + } + }, + { + "type": { + "id": "HP:0003376", + "label": "Steppage gait" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_type_4A_patient_1.json new file mode 100644 index 000000000..b9633671b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_type_4A_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "charcot-marie-tooth_disease,_type_4a", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000764", + "label": "Peripheral axonal degeneration" + } + }, + { + "type": { + "id": "HP:0003400", + "label": "Basal lamina onion bulb formation" + } + }, + { + "type": { + "id": "HP:0007107", + "label": "Segmental peripheral demyelination" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0040129", + "label": "Abnormal nerve conduction velocity" + } + }, + { + "type": { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_type_4B1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_type_4B1_patient_1.json new file mode 100644 index 000000000..556210fba --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_type_4B1_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "charcot-marie-tooth_disease,_type_4b1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" + } + }, + { + "type": { + "id": "HP:0007208", + "label": "Irregular myelin loops" + } + }, + { + "type": { + "id": "HP:0001776", + "label": "Bilateral talipes equinovarus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601382", + "label": "Charcot-Marie-Tooth disease, type 4B1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:59:57.731100Z", + "createdBy": "phenotype2phenopacket", 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"charcot-marie-tooth_disease,_type_4b2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0003481", + "label": "Segmental peripheral demyelination/remyelination" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0001284", + "label": "Areflexia" + } + }, + { + "type": { + "id": "HP:0001178", + "label": "Ulnar claw" + } + }, + { + "type": { + "id": "HP:0003376", + "label": "Steppage gait" + } + }, + { + "type": { + "id": "HP:0002936", + "label": "Distal sensory impairment" + } + }, + { + "type": { + "id": "HP:0003400", + "label": "Basal lamina onion bulb formation" + } + }, + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_type_4C_patient_1.json new file mode 100644 index 000000000..9cd58f85d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_type_4C_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "charcot-marie-tooth_disease,_type_4c", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002936", + "label": "Distal sensory impairment" + } + }, + { + "type": { + "id": "HP:0010628", + "label": "Facial palsy" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0007107", + "label": "Segmental peripheral demyelination" + } + }, + { + "type": { + "id": "HP:0012473", + "label": "Tongue atrophy" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601596", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_disease_type_4D_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "charcot-marie-tooth_disease,_type_4d", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0006844", + "label": "Absent patellar reflexes" + } + }, + { + "type": { + "id": "HP:0006858", + "label": "Impaired distal proprioception" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0011297", + "label": "Abnormal digit morphology" + } + }, + { + "type": { + "id": "HP:0004696", + "label": "Talipes cavus equinovarus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601455", + "label": "Charcot-Marie-Tooth disease, type 4D" + } + } + ], + "metaData": { + "created": "2024-06-11T18:41:17.532500Z", + "createdBy": "phenotype2phenopacket", + 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"subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0012392", + "label": "Jaw hyporeflexia" + } + }, + { + "type": { + "id": "HP:0002311", + "label": "Incoordination" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611228", + "label": "Charcot-Marie-Tooth disease, type 4J" + } + } + ], + "metaData": { + "created": "2024-06-11T21:54:57.354466Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_neuropathy_X_linked_dominant_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_neuropathy_X_linked_dominant_1_patient_1.json new file mode 100644 index 000000000..65efbb0f5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Charcot_Marie_Tooth_neuropathy_X_linked_dominant_1_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "charcot-marie-tooth_neuropathy,_x-linked_dominant,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007149", + "label": "Distal upper limb amyotrophy" + } + }, + { + "type": { + "id": "HP:0009072", + "label": "Decreased Achilles reflex" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_Lymphedema_syndrome_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "cholestasis-lymphedema_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002024", + "label": "Malabsorption" + } + }, + { + "type": { + "id": "HP:0002908", + "label": "Conjugated hyperbilirubinemia" + } + }, + { + "type": { + "id": "HP:0001438", + "label": "Abnormal abdomen morphology" + } + }, + { + "type": { + "id": "HP:0001046", + "label": "Intermittent jaundice" + } + }, + { + "type": { + "id": "HP:0031028", + "label": "Lactescent serum" + } + }, + { + "type": { + "id": "HP:0004788", + "label": "Intestinal lymphedema" + } + }, + { + "type": { + "id": "HP:0008318", + "label": "Elevated leukocyte alkaline phosphatase" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:214900", + "label": "Cholestasis-Lymphedema syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:00:57.778132Z", 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"hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_benign_recurrent_intrahepatic_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_benign_recurrent_intrahepatic_2_patient_1.json new file mode 100644 index 000000000..3e64641fc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_benign_recurrent_intrahepatic_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cholestasis,_benign_recurrent_intrahepatic,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0002904", + "label": "Hyperbilirubinemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605479", + "label": "Cholestasis, benign recurrent intrahepatic, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:47:29.669692Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_intrahepatic_of_pregnancy_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_intrahepatic_of_pregnancy_1_patient_1.json new file mode 100644 index 000000000..03b15cba5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_intrahepatic_of_pregnancy_1_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "cholestasis,_intrahepatic,_of_pregnancy,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002910", + "label": "Elevated circulating hepatic transaminase concentration" + } + }, + { + "type": { + "id": "HP:0200148", + "label": "Abnormal liver function tests during pregnancy" + } + }, + { + "type": { + "id": "HP:0000989", + "label": "Pruritus" + } + }, + { + "type": { + "id": "HP:0010996", + "label": "Abnormal circulating monocarboxylic acid concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:147480", + "label": "Cholestasis, intrahepatic, of pregnancy, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:58:38.391866Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_intrahepatic_of_pregnancy_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_intrahepatic_of_pregnancy_3_patient_1.json new file mode 100644 index 000000000..9accab0d4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_intrahepatic_of_pregnancy_3_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "cholestasis,_intrahepatic,_of_pregnancy_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000989", + "label": "Pruritus" + } + }, + { + "type": { + "id": "HP:0200150", + "label": "Increased serum bile acid concentration during pregnancy" + } + }, + { + "type": { + "id": "HP:0001406", + "label": "Intrahepatic cholestasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614972", + "label": "Cholestasis, intrahepatic, of pregnancy 3" + } + } + ], + "metaData": { + "created": "2024-06-11T22:02:44.023359Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_progressive_familial_intrahepatic_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_progressive_familial_intrahepatic_10_patient_1.json new file mode 100644 index 000000000..fdf8f9ebb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_progressive_familial_intrahepatic_10_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "cholestasis,_progressive_familial_intrahepatic,_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006580", + "label": "Portal fibrosis" + } + }, + { + "type": { + "id": "HP:0003573", + "label": "Increased total bilirubin" + } + }, + { + "type": { + "id": "HP:0002908", + "label": "Conjugated hyperbilirubinemia" + } + }, + { + "type": { + "id": "HP:0031956", + "label": "Elevated circulating aspartate aminotransferase concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619868", + "label": "Cholestasis, progressive familial intrahepatic, 10" + } + } + ], + "metaData": { + "created": "2024-06-11T21:20:47.706210Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_progressive_familial_intrahepatic_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_progressive_familial_intrahepatic_11_patient_1.json new file mode 100644 index 000000000..ae630f534 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_progressive_familial_intrahepatic_11_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cholestasis,_progressive_familial_intrahepatic,_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031964", + "label": "Elevated circulating alanine aminotransferase concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619874", + "label": "Cholestasis, progressive familial intrahepatic, 11" + } + } + ], + "metaData": { + "created": "2024-06-11T19:28:02.518888Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_progressive_familial_intrahepatic_12_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_progressive_familial_intrahepatic_12_patient_1.json new file mode 100644 index 000000000..df34050e1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_progressive_familial_intrahepatic_12_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "cholestasis,_progressive_familial_intrahepatic,_12", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031956", + "label": "Elevated circulating 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}, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_progressive_familial_intrahepatic_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_progressive_familial_intrahepatic_1_patient_1.json new file mode 100644 index 000000000..68768f8be --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_progressive_familial_intrahepatic_1_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "cholestasis,_progressive_familial_intrahepatic_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002908", + "label": "Conjugated hyperbilirubinemia" + } + }, + { + "type": { + "id": "HP:0000952", + "label": "Jaundice" + } + }, + { + "type": { + "id": "HP:0000989", + "label": "Pruritus" + } + }, + { + "type": { + "id": "HP:0000421", + "label": "Epistaxis" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0002748", + "label": "Rickets" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0001744", + "label": "Splenomegaly" + } + }, + { + "type": { + "id": "HP:0002630", + "label": "Fat malabsorption" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:211600", + "label": "Cholestasis, progressive familial intrahepatic 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:37:50.285381Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_progressive_familial_intrahepatic_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_progressive_familial_intrahepatic_2_patient_1.json new file mode 100644 index 000000000..1daefa204 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_progressive_familial_intrahepatic_2_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "cholestasis,_progressive_familial_intrahepatic_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001406", + "label": "Intrahepatic cholestasis" + } + }, + { + "type": { + "id": "HP:0001744", + "label": "Splenomegaly" + } + }, + { + "type": { + "id": "HP:0000989", + "label": "Pruritus" + } + }, + { + "type": { + "id": "HP:0001394", + "label": "Cirrhosis" + } + }, + { + "type": { + "id": "HP:0002908", + "label": "Conjugated hyperbilirubinemia" + } + }, + { + "type": { + "id": "HP:0003155", + "label": "Elevated circulating alkaline phosphatase concentration" + } + }, + { + "type": { + "id": "HP:0002630", + "label": "Fat malabsorption" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0410042", + "label": "Abnormal liver morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601847", + "label": "Cholestasis, progressive familial intrahepatic 2" + } + } + ], + "metaData": { + "created": "2024-06-12T02:15:10.505668Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + 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"cholestasis,_progressive_familial_intrahepatic,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000952", + "label": "Jaundice" + } + }, + { + "type": { + "id": "HP:0001406", + "label": "Intrahepatic cholestasis" + } + }, + { + "type": { + "id": "HP:0002024", + "label": "Malabsorption" + } + }, + { + "type": { + "id": "HP:0000989", + "label": "Pruritus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602347", + "label": "Cholestasis, progressive familial intrahepatic, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T23:23:49.323878Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_progressive_familial_intrahepatic_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_progressive_familial_intrahepatic_4_patient_1.json new file mode 100644 index 000000000..0387ac249 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_progressive_familial_intrahepatic_4_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cholestasis,_progressive_familial_intrahepatic_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001399", + "label": "Hepatic failure" + } + }, + { + "type": { + "id": "HP:0410042", + "label": "Abnormal liver morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615878", + "label": 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cholestasis_progressive_familial_intrahepatic_5_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "cholestasis,_progressive_familial_intrahepatic,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006254", + "label": "Elevated circulating alpha-fetoprotein concentration" + } + }, + { + "type": { + "id": "HP:0008151", + "label": "Prolonged prothrombin time" + } + }, + { + "type": { + "id": "HP:0001399", + "label": "Hepatic failure" + } + }, + { + "type": { + "id": "HP:0031964", + "label": "Elevated circulating alanine aminotransferase concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617049", + "label": "Cholestasis, progressive familial intrahepatic, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T22:33:01.903844Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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+ }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002910", + "label": "Elevated circulating hepatic transaminase concentration" + } + }, + { + "type": { + "id": "HP:0001525", + "label": "Severe failure to thrive" + } + }, + { + "type": { + "id": "HP:0002904", + "label": "Hyperbilirubinemia" + } + }, + { + "type": { + "id": "HP:0410042", + "label": "Abnormal liver morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619484", + "label": "Cholestasis, progressive familial intrahepatic, 6" + } + } + ], + "metaData": { + "created": "2024-06-11T20:10:44.332551Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondrocalcinosis_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "chondrocalcinosis_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005017", + "label": "Polyarticular chondrocalcinosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:118600", + "label": "Chondrocalcinosis 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:01:43.557171Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": 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"label": "Abnormal tarsal ossification" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0008754", + "label": "Laryngeal calcification" + } + }, + { + "type": { + "id": "HP:0005151", + "label": "Preductal coarctation of the aorta" + } + }, + { + "type": { + "id": "HP:0200083", + "label": "Severe limb shortening" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:215045", + "label": "Chondrodysplasia, Blomstrand type" + } + } + ], + "metaData": { + "created": "2024-06-11T22:13:09.436457Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondrodysplasia_calcificans_metaphysealis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondrodysplasia_calcificans_metaphysealis_patient_1.json new file mode 100644 index 000000000..ddf826783 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondrodysplasia_calcificans_metaphysealis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "chondrodysplasia_calcificans_metaphysealis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008155", + "label": "Mucopolysacchariduria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:215050", + "label": "Chondrodysplasia calcificans metaphysealis" + } + } + ], + "metaData": { + "created": "2024-06-11T21:52:33.537996Z", + "createdBy": 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+1,63 @@ +{ + "id": "chondrodysplasia_punctata_1,_x-linked_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008848", + "label": "Moderately short stature" + } + }, + { + "type": { + "id": "HP:0031291", + "label": "Ichthyosis follicularis" + } + }, + { + "type": { + "id": "HP:0000925", + "label": "Abnormality of the vertebral column" + } + }, + { + "type": { + "id": "HP:0012781", + "label": "Mid-frequency hearing loss" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:302950", + "label": "Chondrodysplasia punctata 1, X-linked recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T22:45:46.798267Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": 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"type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0040050", + "label": "Sparse upper eyelashes" + } + }, + { + "type": { + "id": "HP:0005607", + "label": "Abnormal tracheobronchial morphology" + } + }, + { + "type": { + "id": "HP:0012106", + "label": "Rhizomelic leg shortening" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0010766", + "label": "Ectopic calcification" + } + }, + { + "type": { + "id": "HP:0011120", + "label": "Concave nasal ridge" + } + }, + { + "type": { + "id": "HP:0000969", + "label": "Edema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:302960", + "label": "Chondrodysplasia punctata 2, X-linked dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T19:00:01.959743Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondrodysplasia_punctata_Tibia_Metacarpal_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondrodysplasia_punctata_Tibia_Metacarpal_type_patient_1.json new file mode 100644 index 000000000..e05f3b11c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondrodysplasia_punctata_Tibia_Metacarpal_type_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "chondrodysplasia_punctata,_tibia-metacarpal_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002832", + "label": "Calcific stippling" + } + }, + { + "type": { + "id": "HP:0000272", + "label": "Malar flattening" + } + }, + { + "type": { + "id": "HP:0010655", + "label": "Epiphyseal stippling" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:0005922", + "label": "Abnormal hand morphology" + } + }, + { + "type": { + "id": "HP:0006379", + "label": "Proximal tibial hypoplasia" + } + }, + { + "type": { + "id": "HP:0200083", + "label": "Severe limb shortening" + } + }, + { + "type": { + "id": "HP:0000457", + "label": "Depressed nasal ridge" + } + }, + { + "type": { + "id": "HP:0010036", + "label": "Aplasia/Hypoplasia of the 2nd metacarpal" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:118651", + "label": "Chondrodysplasia punctata, Tibia-Metacarpal type" + } + } + ], + "metaData": { + "created": "2024-06-11T21:58:10.314039Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondrodysplasia_punctata_autosomal_dominantchondrodysplasia_punctata_due_to_vitamin_K_deficiency_included_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondrodysplasia_punctata_autosomal_dominantchondrodysplasia_punctata_due_to_vitamin_K_deficiency_included_patient_1.json new file mode 100644 index 000000000..42287c20f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondrodysplasia_punctata_autosomal_dominantchondrodysplasia_punctata_due_to_vitamin_K_deficiency_included_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "chondrodysplasia_punctata,_autosomal_dominantchondrodysplasia_punctata_due_to_vitamin_k_deficiency,_included", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0006380", + "label": "Knee flexion contracture" + } + }, + { + "type": { + "id": "HP:0010655", + "label": "Epiphyseal stippling" + } + }, + { + "type": { + "id": "HP:0011892", + "label": "Decreased circulating vitamin K concentration" + } + }, + { + "type": { + "id": "HP:0034993", + "label": "Hip internal rotation contracture" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:118650", + "label": "Chondrodysplasia punctata, autosomal dominantchondrodysplasia punctata due to vitamin K deficiency, included" + } + } + ], + "metaData": { + "created": "2024-06-11T22:07:58.513068Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondrodysplasia_with_joint_dislocations_Gpapp_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondrodysplasia_with_joint_dislocations_Gpapp_type_patient_1.json new file mode 100644 index 000000000..60cd24954 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondrodysplasia_with_joint_dislocations_Gpapp_type_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "chondrodysplasia_with_joint_dislocations,_gpapp_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003196", + "label": "Short nose" + } + }, + { + "type": { + "id": "HP:0002999", + "label": "Patellar dislocation" + } + }, + { + "type": { + "id": "HP:0009190", + "label": "Irregular epiphyses of the metacarpals" + } + }, + { + "type": { + "id": "HP:0000348", + "label": "High forehead" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0001234", + "label": "Hitchhiker thumb" + } + }, + { + "type": { + "id": "HP:0002945", + "label": "Intervertebral space narrowing" + } + }, + { + "type": { + "id": "HP:0002857", + "label": "Genu valgum" + } + }, + { + "type": { + "id": "HP:0008780", + "label": "Congenital bilateral hip dislocation" + } + }, + { + "type": { + "id": "HP:0410219", + "label": "Hypoplasia of mandible relative to maxilla" + } + }, + { + "type": { + "id": "HP:0002996", + "label": "Limited elbow movement" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0000364", + "label": "Hearing abnormality" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614078", + "label": "Chondrodysplasia with joint dislocations, Gpapp type" + } + } + ], + "metaData": { + "created": "2024-06-11T23:44:19.931242Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondrodysplasia_with_platyspondyly_distinctive_brachydactyly_hydrocephaly_and_microphthalmia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondrodysplasia_with_platyspondyly_distinctive_brachydactyly_hydrocephaly_and_microphthalmia_patient_1.json new file mode 100644 index 000000000..87b220ecb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondrodysplasia_with_platyspondyly_distinctive_brachydactyly_hydrocephaly_and_microphthalmia_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "chondrodysplasia_with_platyspondyly,_distinctive_brachydactyly,_hydrocephaly,_and_microphthalmia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006402", + "label": "Distal shortening of limbs" + } + }, + { + "type": { + "id": "HP:0000878", + "label": "11 pairs of ribs" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0003561", + "label": "Birth length less than 3rd percentile" + } + }, + { + "type": { + "id": "HP:0008846", + "label": "Severe intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0000457", + "label": "Depressed nasal ridge" + } + }, + { + "type": { + "id": "HP:0003272", + "label": "Abnormal hip bone morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300863", + "label": "Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia" + } + } + ], + "metaData": { + "created": "2024-06-11T19:26:48.570424Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondroitin_6_Sulfaturia_defective_cellular_immunity_nephrotic_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondroitin_6_Sulfaturia_defective_cellular_immunity_nephrotic_syndrome_patient_1.json new file mode 100644 index 000000000..0fa1f33a6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondroitin_6_Sulfaturia_defective_cellular_immunity_nephrotic_syndrome_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "chondroitin-6-sulfaturia,_defective_cellular_immunity,_nephrotic_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000100", + "label": "Nephrotic syndrome" + } + }, + { + "type": { + "id": "HP:0002843", + "label": "Abnormal T cell morphology" + } + }, + { + "type": { + "id": "HP:0000481", + "label": "Abnormal cornea morphology" + } + }, + { + "type": { + "id": "HP:0001707", + "label": "Abnormal right ventricle morphology" + } + }, + { + "type": { + "id": "HP:0033354", + "label": "Abnormal urine metabolite level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:215250", + "label": "Chondroitin-6-Sulfaturia, defective cellular immunity, nephrotic syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:35:14.171049Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondrosarcoma_extraskeletal_myxoid_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondrosarcoma_extraskeletal_myxoid_patient_1.json new file mode 100644 index 000000000..136b76b54 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondrosarcoma_extraskeletal_myxoid_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "chondrosarcoma,_extraskeletal_myxoid", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006765", + "label": "Chondrosarcoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612237", + "label": "Chondrosarcoma, extraskeletal myxoid" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:13.023979Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondrosarcoma_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondrosarcoma_patient_1.json new file mode 100644 index 000000000..2dba00f00 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chondrosarcoma_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "chondrosarcoma", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006765", + "label": "Chondrosarcoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:215300", + "label": "Chondrosarcoma" + } + } + ], + "metaData": { + "created": "2024-06-11T19:37:54.811292Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Chopra_Amiel_Gordon_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chopra_Amiel_Gordon_syndrome_patient_1.json new file mode 100644 index 000000000..34cb75658 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chopra_Amiel_Gordon_syndrome_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "chopra-amiel-gordon_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0009890", + "label": "High anterior hairline" + } + }, + { + "type": { + "id": "HP:0000454", + "label": "Flared nostrils" + } + }, + { + "type": { + "id": "HP:0000325", + "label": "Triangular face" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0000122", + "label": "Unilateral renal agenesis" + } + }, + { + "type": { + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" + } + }, + { + "type": { + "id": "HP:0000629", + "label": "Periorbital fullness" + } + }, + { + "type": { + "id": "HP:0002353", + "label": "EEG abnormality" + } + }, + { + "type": { + "id": "HP:0008897", + "label": "Postnatal growth retardation" + } + }, + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0000429", + "label": "Abnormal morphology of the nasal alae" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619504", + "label": "Chopra-Amiel-Gordon syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:12:19.923982Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + 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"type": { + "id": "HP:0010762", + "label": "Chordoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:215400", + "label": "Chordoma, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:03.294155Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Chorea_benign_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chorea_benign_familial_patient_1.json new file mode 100644 index 000000000..8ec74b68d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chorea_benign_familial_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "chorea,_benign_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002072", + "label": "Chorea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:215450", + "label": "Chorea, benign familial" + } + } + ], + "metaData": { + "created": "2024-06-11T21:41:06.715571Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Chorea_benign_hereditary_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chorea_benign_hereditary_patient_1.json new file mode 100644 index 000000000..683c3646a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chorea_benign_hereditary_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "chorea,_benign_hereditary", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0002359", + "label": "Frequent falls" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0002515", + "label": "Waddling gait" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:118700", + "label": "Chorea, benign hereditary" + } + } + ], + "metaData": { + "created": "2024-06-11T20:09:28.534873Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Chorea_childhood_onset_with_psychomotor_retardation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chorea_childhood_onset_with_psychomotor_retardation_patient_1.json new file mode 100644 index 000000000..e3dd24b47 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chorea_childhood_onset_with_psychomotor_retardation_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "chorea,_childhood-onset,_with_psychomotor_retardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0002465", + "label": "Poor speech" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616939", + "label": "Chorea, childhood-onset, with psychomotor retardation" + } + } + ], + "metaData": { + "created": "2024-06-11T23:28:25.338506Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Choreoathetosis_familial_inverted_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Choreoathetosis_familial_inverted_patient_1.json new file mode 100644 index 000000000..cc197305c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Choreoathetosis_familial_inverted_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "choreoathetosis,_familial_inverted", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002063", + "label": "Rigidity" + } + }, + { + "type": { + "id": "HP:0007326", + "label": "Progressive choreoathetosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:118750", + "label": "Choreoathetosis, familial inverted" + } + } + ], + "metaData": { + "created": "2024-06-12T02:19:01.263644Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Choreoathetosis_hypothyroidism_and_neonatal_respiratory_distress_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Choreoathetosis_hypothyroidism_and_neonatal_respiratory_distress_patient_1.json new file mode 100644 index 000000000..76c3fdc29 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Choreoathetosis_hypothyroidism_and_neonatal_respiratory_distress_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "choreoathetosis,_hypothyroidism,_and_neonatal_respiratory_distress", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0032971", + "label": "Computed tomographic halo sign" + } + }, + { + "type": { + "id": "HP:0030864", + "label": "Intercostal retractions" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0008376", + "label": "Nasal dysarthria" + } + }, + { + "type": { + "id": "HP:0011343", + "label": "Moderate global developmental delay" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": 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"label": "Chorioretinal dystrophy" + } + }, + { + "type": { + "id": "HP:0001135", + "label": "Chorioretinal dystrophy" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000533", + "label": "Chorioretinal atrophy" + } + }, + { + "type": { + "id": "HP:0007643", + "label": "Peripheral tractional retinal detachment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600790", + "label": "Chorioretinal atrophy, progressive bifocal" + } + } + ], + "metaData": { + "created": "2024-06-11T23:17:00.057498Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Choroidal_dystrophy_central_areolar_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Choroidal_dystrophy_central_areolar_1_patient_1.json new file mode 100644 index 000000000..d2f128add --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Choroidal_dystrophy_central_areolar_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "choroidal_dystrophy,_central_areolar_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000580", + "label": "Pigmentary retinopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:215500", + "label": "Choroidal dystrophy, central areolar 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:35:30.429227Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Choroidal_dystrophy_central_areolar_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Choroidal_dystrophy_central_areolar_2_patient_1.json new file mode 100644 index 000000000..e4a1e0243 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Choroidal_dystrophy_central_areolar_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "choroidal_dystrophy,_central_areolar_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613105", + "label": "Choroidal dystrophy, central areolar 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:56:11.156227Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Choroidal_dystrophy_central_areolar_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Choroidal_dystrophy_central_areolar_3_patient_1.json new file mode 100644 index 000000000..8d8b9a2b9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Choroidal_dystrophy_central_areolar_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "choroidal_dystrophy,_central_areolar_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000533", + "label": "Chorioretinal atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613144", + "label": "Choroidal dystrophy, central areolar 3" + } + } + ], + "metaData": { + "created": "2024-06-11T21:01:58.728435Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_10q22_3_q23_2_deletion_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_10q22_3_q23_2_deletion_syndrome_patient_1.json new file mode 100644 index 000000000..f320b207f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_10q22_3_q23_2_deletion_syndrome_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "chromosome_10q22.3-q23.2_deletion_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000256", + "label": "Macrocephaly" + } + }, + { + "type": { + "id": "HP:0100783", + "label": "Breast aplasia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0033128", + "label": "Delayed ability to crawl" + } + }, + { + "type": { + "id": "HP:0001166", + "label": "Arachnodactyly" + } + }, + { + "type": { + "id": "HP:0000717", + "label": "Autism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612242", + "label": "Chromosome 10q22.3-q23.2 deletion syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:25:58.789039Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_15q13_3_microdeletion_syndrome_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "chromosome_15q13.3_microdeletion_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0009373", + "label": "Type C brachydactyly" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0010522", + "label": "Dyslexia" + } + }, + { + "type": { + "id": "HP:0031165", + "label": "Multifocal seizures" + } + }, + { + "type": { + "id": "HP:0000664", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_15q14_deletion_syndrome_patient_1.json new file mode 100644 index 000000000..46777c472 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_15q14_deletion_syndrome_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "chromosome_15q14_deletion_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0410030", + "label": "Cleft lip" + } + }, + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal defect" + } + }, + { + "type": { + "id": "HP:0033166", + "label": "Recurrent viral upper respiratory tract infections" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0000307", + "label": "Pointed chin" + } + }, + { + "type": { + "id": "HP:0000232", + "label": "Everted lower lip vermilion" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + } + ], + "diseases": [ + { 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000000000..6f794e94b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_15q25_deletion_syndrome_patient_1.json @@ -0,0 +1,165 @@ +{ + "id": "chromosome_15q25_deletion_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0004299", + "label": "Hernia of the abdominal wall" + } + }, + { + "type": { + "id": "HP:0000159", + "label": "Abnormal lip morphology" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0005469", + "label": "Flat occiput" + } + }, + { + "type": { + "id": "HP:0004307", + "label": "Abnormal anatomic location of the heart" + } + }, + { + "type": { + "id": "HP:0025516", + "label": "Coronary-pulmonary artery fistula" + } + }, + { + "type": { + "id": "HP:0025193", + "label": "Posterolateral diaphragmatic hernia" + } + }, + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_16p11_2_deletion_syndrome_593_kb_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "chromosome_16p11.2_deletion_syndrome,_593-kb", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000256", + "label": "Macrocephaly" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611913", + "label": "Chromosome 16p11.2 deletion syndrome, 593-kb" + } + } + ], + "metaData": { + "created": "2024-06-11T17:44:04.574753Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_16p12_1_deletion_syndrome_520_kbfragile_site_16p12_included_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_16p12_1_deletion_syndrome_520_kbfragile_site_16p12_included_patient_1.json new file mode 100644 index 000000000..3c4369f3c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_16p12_1_deletion_syndrome_520_kbfragile_site_16p12_included_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "chromosome_16p12.1_deletion_syndrome,_520-kbfragile_site_16p12,_included", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { 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"https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_16p12_2_p11_2_deletion_syndrome_7_1_to_8_7_mb_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_16p12_2_p11_2_deletion_syndrome_7_1_to_8_7_mb_patient_1.json new file mode 100644 index 000000000..584b95ae4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_16p12_2_p11_2_deletion_syndrome_7_1_to_8_7_mb_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "chromosome_16p12.2-p11.2_deletion_syndrome,_7.1-_to_8.7-mb", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000277", + "label": "Abnormal mandible morphology" + } + }, + { + "type": { + "id": "HP:0000403", + "label": "Recurrent otitis media" + } + }, + { + "type": { + "id": "HP:0000201", + "label": "Pierre-Robin sequence" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0012719", + "label": "Functional abnormality of the gastrointestinal tract" + } + }, + { + "type": { + "id": "HP:0002342", + "label": "Intellectual disability, moderate" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0100349", + "label": "Contracture of the proximal interphalangeal joint of the 3rd toe" + } + }, + { + "type": { + "id": "HP:0012381", + "label": "Delayed self-feeding during toddler years" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613604", + "label": "Chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-mb" + } + } + ], + "metaData": { + "created": "2024-06-11T21:28:18.850328Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_16p13_2_deletion_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_16p13_2_deletion_syndrome_patient_1.json new file mode 100644 index 000000000..f8b84bd05 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_16p13_2_deletion_syndrome_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "chromosome_16p13.2_deletion_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012412", + "label": "Premature adrenarche" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000718", + "label": "Aggressive behavior" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + } + ], + "diseases": [ + { + 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000000000..e824998b0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_16p13_3_deletion_syndrome_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "chromosome_16p13.3_deletion_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000077", + "label": "Abnormality of the kidney" + } + }, + { + "type": { + "id": "HP:0004324", + "label": "Increased body weight" + } + }, + { + "type": { + "id": "HP:0000448", + "label": "Prominent nose" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0004383", + "label": "Hypoplastic left heart" + } + }, + { + "type": { + "id": "HP:0001531", + "label": "Failure to thrive in infancy" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0005769", + "label": "Fifth finger distal phalanx clinodactyly" + } + }, + { + "type": { + "id": 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file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_17p13_3_telomeric_duplication_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_17p13_3_telomeric_duplication_syndrome_patient_1.json new file mode 100644 index 000000000..c9632dfc8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_17p13_3_telomeric_duplication_syndrome_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "chromosome_17p13.3,_telomeric,_duplication_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009276", + "label": "Contracture of the proximal interphalangeal joint of the 4th finger" + } + }, + { + "type": { + "id": "HP:0001171", + "label": "Split hand" + } + }, + { + "type": { + "id": "HP:0009700", + "label": "Finger symphalangism" + } + }, + { + "type": { + "id": "HP:0100257", + "label": "Ectrodactyly" + } + }, + { + "type": { + "id": "HP:0006097", + "label": "3-4 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+ } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_2q31_1_duplication_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_2q31_1_duplication_syndrome_patient_1.json new file mode 100644 index 000000000..ff047a564 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_2q31_1_duplication_syndrome_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "chromosome_2q31.1_duplication_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0009777", + "label": "Absent thumb" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613681", + "label": "Chromosome 2q31.1 duplication syndrome" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_2q35_duplication_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "chromosome_2q35_duplication_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004691", + "label": "2-3 toe syndactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:185900", + "label": "Chromosome 2q35 duplication syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:05:53.556332Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_3q29_duplication_syndrome_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "chromosome_3q29_duplication_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001513", + "label": "Obesity" + } + }, + { + "type": { + "id": "HP:0003196", + "label": "Short nose" + } + }, + { + "type": { + "id": "HP:0001763", + "label": "Pes planus" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000311", + "label": "Round face" + } + }, + { + "type": { + "id": "HP:0000414", + "label": "Bulbous nose" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611936", + "label": "Chromosome 3q29 duplication syndrome" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_5q_deletion_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "chromosome_5q_deletion_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012133", + "label": "Erythroid hypoplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:153550", + "label": "Chromosome 5q deletion syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:51:37.292436Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + 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+} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_8q21_11_deletion_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_8q21_11_deletion_syndrome_patient_1.json new file mode 100644 index 000000000..58c9fb110 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chromosome_8q21_11_deletion_syndrome_patient_1.json @@ -0,0 +1,195 @@ +{ + "id": "chromosome_8q21.11_deletion_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000322", + "label": "Short philtrum" + } + }, + { + "type": { + "id": "HP:0010489", + "label": "Absent palmar crease" + } + }, + { + "type": { + "id": "HP:0000411", + "label": "Protruding ear" + } + }, + { + "type": { + "id": "HP:0002263", + "label": "Exaggerated cupid's bow" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0000647", + "label": 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file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Chronic_granulomatous_disease_3_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chronic_granulomatous_disease_3_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..ed26d0f42 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chronic_granulomatous_disease_3_autosomal_recessive_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "chronic_granulomatous_disease_3,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011127", + "label": "Perioral eczema" + } + }, + { + "type": { + "id": "HP:0032546", + "label": "Abdominal guarding" + } + }, + { + "type": { + "id": "HP:0011108", + "label": "Recurrent sinusitis" + } + }, + { + "type": { + "id": "HP:0004385", + "label": "Protracted diarrhea" + } + }, + { + "type": { + "id": "HP:0005218", + "label": "Anoperineal fistula" + } + }, + { + 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"namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Chylomicron_retention_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chylomicron_retention_disease_patient_1.json new file mode 100644 index 000000000..065a1d058 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chylomicron_retention_disease_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "chylomicron_retention_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003073", + "label": "Hypoalbuminemia" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0002495", + "label": "Impaired vibratory sensation" + } + }, + { + "type": { + "id": "HP:0002014", + "label": "Diarrhea" + } + }, + { + "type": { + "id": "HP:0004395", + "label": "Malnutrition" + } + }, + { + "type": { + "id": "HP:0002242", + "label": "Abnormal intestine morphology" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0012718", + "label": "Abnormal gastrointestinal tract morphology" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:246700", + "label": "Chylomicron retention disease" + } + } + ], + "metaData": { + "created": "2024-06-11T18:40:51.091746Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Chylomicronemia_familial_due_to_circulating_inhibitor_of_lipoproteinlipase_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chylomicronemia_familial_due_to_circulating_inhibitor_of_lipoproteinlipase_patient_1.json new file mode 100644 index 000000000..44518cf34 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Chylomicronemia_familial_due_to_circulating_inhibitor_of_lipoproteinlipase_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "chylomicronemia,_familial,_due_to_circulating_inhibitor_of_lipoproteinlipase", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010980", + "label": "Hyperlipoproteinemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:118830", + "label": "Chylomicronemia, familial, due to circulating inhibitor of lipoproteinlipase" + } + } + ], + "metaData": { + "created": "2024-06-11T18:23:17.188803Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_discoordination_due_to_random_ciliary_orientation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_discoordination_due_to_random_ciliary_orientation_patient_1.json new file mode 100644 index 000000000..158e4a48a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_discoordination_due_to_random_ciliary_orientation_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ciliary_discoordination_due_to_random_ciliary_orientation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001939", + "label": "Abnormality of metabolism/homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:215518", + "label": "Ciliary discoordination due to random ciliary orientation" + } + } + ], + "metaData": { + "created": "2024-06-11T21:43:59.251750Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_due_to_transposition_of_ciliary_microtubules_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_due_to_transposition_of_ciliary_microtubules_patient_1.json new file mode 100644 index 000000000..f25b67c81 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_due_to_transposition_of_ciliary_microtubules_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ciliary_dyskinesia_due_to_transposition_of_ciliary_microtubules", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005425", + "label": "Recurrent sinopulmonary infections" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:215520", + "label": "Ciliary dyskinesia due to transposition of ciliary microtubules" + } + } + ], + "metaData": { + "created": "2024-06-11T21:56:11.487820Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_10_patient_1.json new file mode 100644 index 000000000..a404e0c26 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_10_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "ciliary_dyskinesia,_primary,_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001696", + "label": "Situs inversus totalis" + } + }, + { + "type": { + "id": "HP:0011109", + "label": "Chronic sinusitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612518", + "label": "Ciliary dyskinesia, primary, 10" + } + } + ], + "metaData": { + "created": "2024-06-11T21:24:55.854301Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_11_patient_1.json new file mode 100644 index 000000000..7734ad19a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_11_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "ciliary_dyskinesia,_primary,_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012263", + "label": "Immotile cilia" + } + }, + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0011108", + "label": "Recurrent sinusitis" + } + }, + { + "type": { + "id": "HP:0033036", + "label": "Decreased nasal nitric oxide" + } + }, + { + "type": { + "id": "HP:0002257", + "label": "Chronic rhinitis" + } + }, + { + "type": { + "id": "HP:0012260", + "label": "Abnormal central microtubular pair morphology of respiratory motile cilia" + } + }, + { + "type": { + "id": "HP:0012207", + "label": "Reduced sperm motility" + } + }, + { + "type": { + "id": "HP:0002643", + "label": "Neonatal respiratory distress" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0004469", + "label": "Chronic bronchitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612649", + "label": "Ciliary dyskinesia, primary, 11" + } + } + ], + "metaData": { + "created": "2024-06-11T20:34:22.370538Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"id": "HP:0004875", + "label": "Neonatal inspiratory stridor" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0033036", + "label": "Decreased nasal nitric oxide" + } + }, + { + "type": { + "id": "HP:0012252", + "label": "Abnormal respiratory system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612650", + "label": "Ciliary dyskinesia, primary, 12" + } + } + ], + "metaData": { + "created": "2024-06-11T21:33:41.552666Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_13_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_13_patient_1.json new file mode 100644 index 000000000..3ad0d3af3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_13_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "ciliary_dyskinesia,_primary,_13", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012259", + "label": "Absent inner and outer dynein arms" + } + }, + { + "type": { + "id": "HP:0005607", + "label": "Abnormal tracheobronchial morphology" + } + }, + { + "type": { + "id": "HP:0012262", + "label": "Abnormal ciliary motility" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613193", + "label": "Ciliary dyskinesia, primary, 13" + } + } + ], + "metaData": { + "created": "2024-06-11T21:01:09.440206Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_14_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_14_patient_1.json new file mode 100644 index 000000000..d0ce9abcf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_14_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "ciliary_dyskinesia,_primary,_14", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031417", + "label": "Rhinorrhea" + }, + "modifiers": [ + { + "id": "HP:0011010", + "label": "Chronic" + } + ] + }, + { + "type": { + "id": "HP:0030853", + "label": "Heterotaxy" + } + }, + { + "type": { + "id": "HP:0004469", + "label": "Chronic bronchitis" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + }, + "modifiers": [ + { + "id": "HP:0011010", + "label": "Chronic" + } + ] + }, + { + "type": { + "id": "HP:0032101", + "label": "Unusual infection" + } + }, + { + "type": { + "id": "HP:0012206", + "label": "Abnormal sperm motility" + } + }, + { + "type": { + "id": "HP:0012874", + "label": "Abnormal male reproductive system physiology" + } + }, + { + "type": { + "id": "HP:0012647", + "label": "Abnormal inflammatory response" + } + }, + { + "type": { + "id": "HP:0012263", + "label": "Immotile cilia" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0012253", + "label": "Abnormal respiratory epithelium morphology" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0033362", + "label": "Recurrent coughing spasms" + }, + "modifiers": [ + { + "id": "HP:0011010", + "label": "Chronic" + } + ] + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613807", + "label": "Ciliary dyskinesia, primary, 14" + } + } + ], + "metaData": { + "created": "2024-06-11T20:17:23.008283Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"label": "Chronic sinusitis" + } + }, + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0004875", + "label": "Neonatal inspiratory stridor" + } + }, + { + "type": { + "id": "HP:0004469", + "label": "Chronic bronchitis" + } + }, + { + "type": { + "id": "HP:0012258", + "label": "Abnormal axonemal organization of respiratory motile cilia" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0033166", + "label": "Recurrent viral upper respiratory tract infections" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613808", + "label": "Ciliary dyskinesia, primary, 15" + } + } + ], + "metaData": { + "created": "2024-06-11T21:04:24.905063Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_17_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_17_patient_1.json new file mode 100644 index 000000000..b00ac0e31 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_17_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "ciliary_dyskinesia,_primary,_17", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012255", + "label": "Dynein arm defect of respiratory motile cilia" + } + }, + { + "type": { + "id": "HP:0011109", + "label": "Chronic sinusitis" + } + }, + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0001651", + "label": "Dextrocardia" + } + }, + { + "type": { + "id": "HP:0012265", + "label": "Ciliary dyskinesia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614679", + "label": "Ciliary dyskinesia, 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_18_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "ciliary_dyskinesia,_primary,_18", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001696", + "label": "Situs inversus totalis" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0040334", + "label": "Purulent rhinitis" + }, + "modifiers": [ + { + "id": "HP:0031796", + "label": "Recurrent" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614874", + "label": "Ciliary dyskinesia, primary, 18" + } + } + ], + "metaData": { + "created": "2024-06-11T23:27:49.815408Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"label": "Respiratory insufficiency due to defective ciliary clearance" + } + }, + { + "type": { + "id": "HP:0004469", + "label": "Chronic bronchitis" + } + }, + { + "type": { + "id": "HP:0012265", + "label": "Ciliary dyskinesia" + } + }, + { + "type": { + "id": "HP:0012262", + "label": "Abnormal ciliary motility" + } + }, + { + "type": { + "id": "HP:0000789", + "label": "Infertility" + } + }, + { + "type": { + "id": "HP:0011108", + "label": "Recurrent sinusitis" + } + }, + { + "type": { + "id": "HP:0012259", + "label": "Absent inner and outer dynein arms" + } + }, + { + "type": { + "id": "HP:0006538", + "label": "Recurrent bronchopulmonary infections" + } + }, + { + "type": { + "id": "HP:0004499", + "label": "Chronic rhinitis due to narrow nasal airway" + }, + "modifiers": [ + { + "id": "HP:0031796", + "label": "Recurrent" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614935", + "label": "Ciliary dyskinesia, primary, 19" + } + } + ], + "metaData": { + "created": 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@@ +{ + "id": "ciliary_dyskinesia,_primary,_20", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002105", + "label": "Hemoptysis" + } + }, + { + "type": { + "id": "HP:0006532", + "label": "Recurrent pneumonia" + } + }, + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0012256", + "label": "Absent outer dynein arms" + } + }, + { + "type": { + "id": "HP:0000403", + "label": "Recurrent otitis media" + } + }, + { + "type": { + "id": "HP:0011108", + "label": "Recurrent sinusitis" + } + }, + { + "type": { + "id": "HP:0200073", + "label": "Respiratory insufficiency due to defective ciliary clearance" + } + }, + { + "type": { + "id": "HP:0001696", + "label": "Situs inversus totalis" + } + }, + { + "type": { + "id": "HP:0011538", + "label": "Atrial situs inversus" + } + }, + { + "type": { + "id": "HP:0100750", + "label": "Atelectasis" + } + }, + { + "type": { + "id": "HP:0005301", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_22_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "ciliary_dyskinesia,_primary,_22", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012384", + "label": "Rhinitis" + } + }, + { + "type": { + "id": "HP:0011108", + "label": "Recurrent sinusitis" + } + }, + { + "type": { + "id": "HP:0200073", + "label": "Respiratory insufficiency due to defective ciliary clearance" + } + }, + { + "type": { + "id": "HP:0002205", + "label": "Recurrent respiratory infections" + } + }, + { + "type": { + "id": "HP:0012207", + "label": "Reduced sperm motility" + } + }, + { + "type": { + "id": "HP:0012265", + "label": "Ciliary dyskinesia" + } + }, + { + "type": { + "id": "HP:0033036", + "label": "Decreased nasal nitric oxide" + } + }, + { + "type": { + "id": "HP:0000403", + "label": "Recurrent otitis media" + } + }, + { + "type": { + "id": "HP:0004469", + "label": "Chronic bronchitis" + } 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"version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_23_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_23_patient_1.json new file mode 100644 index 000000000..12ffdf6e9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_23_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "ciliary_dyskinesia,_primary,_23", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011108", + "label": "Recurrent sinusitis" + } + }, + { + "type": { + "id": "HP:0002643", + "label": "Neonatal respiratory distress" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0001696", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_24_patient_1.json new file mode 100644 index 000000000..2f1f890f6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_24_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "ciliary_dyskinesia,_primary,_24", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002788", + "label": "Recurrent upper respiratory tract infections" + } + }, + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615481", + "label": "Ciliary dyskinesia, primary, 24" + } + } + ], + "metaData": { + "created": "2024-06-11T20:28:20.626698Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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dyskinesia" + } + }, + { + "type": { + "id": "HP:0032101", + "label": "Unusual infection" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615482", + "label": "Ciliary dyskinesia, primary, 25" + } + } + ], + "metaData": { + "created": "2024-06-11T20:52:36.105590Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_26_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_26_patient_1.json new file mode 100644 index 000000000..3b14dd24b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_26_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "ciliary_dyskinesia,_primary,_26", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002643", + "label": "Neonatal respiratory distress" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0001696", + "label": "Situs inversus totalis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0033036", + "label": "Decreased nasal nitric oxide" + } + }, + { + "type": { + "id": "HP:0000403", + "label": "Recurrent otitis media" + } + }, + { + "type": { + "id": "HP:0012263", + "label": "Immotile cilia" + } + }, + { + "type": { + "id": "HP:0012207", + "label": "Reduced sperm motility" + } + }, + { + "type": { + "id": "HP:0033151", + "label": "Abnormal pharynx morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615500", + "label": "Ciliary dyskinesia, primary, 26" + } + } + ], + "metaData": { + "created": "2024-06-11T22:40:19.926030Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_27_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_27_patient_1.json new file mode 100644 index 000000000..924ab0e1a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_27_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "ciliary_dyskinesia,_primary,_27", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002205", + "label": "Recurrent respiratory infections" + } + }, + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0033036", + "label": "Decreased nasal nitric oxide" + } + }, + { + "type": { + "id": "HP:0000403", + "label": "Recurrent otitis media" + } + }, + { + "type": { + "id": "HP:0011109", + "label": "Chronic sinusitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615504", + "label": "Ciliary dyskinesia, primary, 27" + } + } + ], + "metaData": { + "created": "2024-06-11T21:03:05.310405Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_28_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_28_patient_1.json new file mode 100644 index 000000000..e78083159 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_28_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "ciliary_dyskinesia,_primary,_28", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + }, + { + "type": { + "id": "HP:0200109", + "label": "Absent/shortened outer dynein arms" + } + }, + { + "type": { + "id": "HP:0002719", + "label": "Recurrent infections" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0011108", + "label": "Recurrent sinusitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615505", + "label": "Ciliary dyskinesia, primary, 28" + } + } + ], + "metaData": { + "created": "2024-06-11T21:25:36.594995Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + 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"HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0033036", + "label": "Decreased nasal nitric oxide" + } + }, + { + "type": { + "id": "HP:0000144", + "label": "Decreased fertility" + } + }, + { + "type": { + "id": "HP:0032101", + "label": "Unusual infection" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615872", + "label": "Ciliary dyskinesia, primary, 29" + } + } + ], + "metaData": { + "created": "2024-06-11T20:23:29.943450Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_2_patient_1.json new file mode 100644 index 000000000..d88dea59e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_2_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "ciliary_dyskinesia,_primary,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000388", + "label": "Otitis media" + } + }, + { + "type": { + "id": "HP:0012259", + "label": "Absent inner and outer dynein arms" + } + }, + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0002098", + "label": "Respiratory distress" + } + }, + { + "type": { + "id": "HP:0100582", + "label": "Nasal polyposis" + } + }, + { + "type": { + "id": "HP:0002205", + "label": "Recurrent respiratory infections" + } + }, + { + "type": { + "id": "HP:0012265", + "label": "Ciliary dyskinesia" + } + }, + { + "type": { + "id": "HP:0012649", + "label": "Increased inflammatory response" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606763", + "label": "Ciliary dyskinesia, primary, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:58:53.517724Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_30_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_30_patient_1.json new file mode 100644 index 000000000..e9d636256 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_30_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "ciliary_dyskinesia,_primary,_30", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002093", + "label": "Respiratory insufficiency" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0031245", + "label": "Productive cough" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0012261", + "label": "Abnormal respiratory motile cilium physiology" + } + }, + { + "type": { + "id": "HP:0200073", + "label": "Respiratory insufficiency due to defective ciliary clearance" + } + }, + { + "type": { + "id": "HP:0011947", + "label": "Respiratory tract infection" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616037", + "label": "Ciliary dyskinesia, primary, 30" + } + } + ], + "metaData": { + "created": "2024-06-11T21:52:21.677596Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_32_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_32_patient_1.json new file mode 100644 index 000000000..46ae999d4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_32_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "ciliary_dyskinesia,_primary,_32", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012267", + "label": "Absent respiratory ciliary axoneme radial spokes" + } + }, + { + "type": { + "id": "HP:0033036", + "label": "Decreased nasal nitric oxide" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616481", + "label": "Ciliary dyskinesia, primary, 32" + } + } + ], + "metaData": { + "created": "2024-06-11T22:49:00.465247Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"label": "Chronic rhinitis" + } + }, + { + "type": { + "id": "HP:0002837", + "label": "Recurrent bronchitis" + } + }, + { + "type": { + "id": "HP:0002783", + "label": "Recurrent lower respiratory tract infections" + } + }, + { + "type": { + "id": "HP:0012265", + "label": "Ciliary dyskinesia" + } + }, + { + "type": { + "id": "HP:0000403", + "label": "Recurrent otitis media" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616726", + "label": "Ciliary dyskinesia, primary, 33" + } + } + ], + "metaData": { + "created": "2024-06-11T23:31:04.915326Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_34_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_34_patient_1.json new file mode 100644 index 000000000..b2ba78879 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_34_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "ciliary_dyskinesia,_primary,_34", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012208", + "label": "Immotile sperm" + } + }, + { + "type": { + "id": "HP:0033036", + "label": "Decreased nasal nitric oxide" + } + }, + { + "type": { + "id": "HP:0011108", + "label": "Recurrent sinusitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617091", + "label": "Ciliary dyskinesia, primary, 34" + } + } + ], + "metaData": { + "created": "2024-06-11T20:03:40.201460Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_35_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_35_patient_1.json new file mode 100644 index 000000000..b15f87f9f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_35_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "ciliary_dyskinesia,_primary,_35", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002643", + "label": "Neonatal respiratory distress" + } + }, + { + "type": { + "id": "HP:0002257", + "label": "Chronic rhinitis" + } + }, + { + "type": { + "id": "HP:0031245", + "label": "Productive cough" + } + }, + { + "type": { + "id": "HP:0000389", + "label": "Chronic otitis media" + } + }, + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0006532", + "label": "Recurrent pneumonia" + } + }, + { + "type": { + "id": "HP:0011109", + "label": "Chronic sinusitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617092", + "label": "Ciliary dyskinesia, primary, 35" + } + } + ], + "metaData": { + "created": "2024-06-11T19:37:42.056455Z", + "createdBy": 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"ciliary_dyskinesia,_primary,_36,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002093", + "label": "Respiratory insufficiency" + } + }, + { + "type": { + "id": "HP:0001742", + "label": "Nasal congestion" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300991", + "label": "Ciliary dyskinesia, primary, 36, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T23:46:42.588039Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_37_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_37_patient_1.json new file mode 100644 index 000000000..8804e3394 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_37_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "ciliary_dyskinesia,_primary,_37", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031417", + "label": "Rhinorrhea" + } + }, + { + "type": { + "id": "HP:0000821", + "label": "Hypothyroidism" + } + }, + { + "type": { + "id": "HP:0004307", + "label": "Abnormal anatomic location of the heart" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0000144", + "label": "Decreased fertility" + } + }, + { + "type": { + "id": "HP:0011772", + "label": "Abnormal thyroid morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617577", + "label": "Ciliary dyskinesia, primary, 37" + } + } + ], + "metaData": { + "created": "2024-06-11T22:55:23.119621Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_38_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_38_patient_1.json new file mode 100644 index 000000000..e3fb25877 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_38_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "ciliary_dyskinesia,_primary,_38", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031245", + "label": "Productive cough" + } + }, + { + "type": { + "id": "HP:0002643", + "label": "Neonatal respiratory distress" + } + }, + { + "type": { + "id": "HP:0001696", + "label": "Situs inversus totalis" + } + }, + { + "type": { + "id": "HP:0005938", + "label": "Abnormal respiratory motile cilium morphology" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618063", + "label": "Ciliary dyskinesia, primary, 38" + } + } + ], + "metaData": { + "created": 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@@ +{ + "id": "ciliary_dyskinesia,_primary,_39", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006528", + "label": "Chronic lung disease" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618254", + "label": "Ciliary dyskinesia, primary, 39" + } + } + ], + "metaData": { + "created": "2024-06-11T23:01:57.838693Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_3_with_or_without_situs_inversus_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_3_with_or_without_situs_inversus_patient_1.json new file mode 100644 index 000000000..e47c256ab --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_3_with_or_without_situs_inversus_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "ciliary_dyskinesia,_primary,_3,_with_or_without_situs_inversus", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002205", + "label": "Recurrent respiratory infections" + } + }, + { + "type": { + "id": "HP:0011108", + "label": "Recurrent sinusitis" + } + }, + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0012265", + "label": "Ciliary dyskinesia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608644", + "label": "Ciliary dyskinesia, primary, 3, with or without situs inversus" + } + } + ], + "metaData": { + "created": "2024-06-12T02:17:21.766434Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_40_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_40_patient_1.json new file mode 100644 index 000000000..f89e4c719 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_40_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "ciliary_dyskinesia,_primary,_40", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011109", + "label": "Chronic sinusitis" + } + }, + { + "type": { + "id": "HP:0012735", + "label": "Cough" + } + }, + { + "type": { + "id": "HP:0011579", + "label": "Unbalanced atrioventricular canal defect" + } + }, + { + "type": { + "id": "HP:0006695", + "label": "Atrioventricular canal defect" + } + }, + { + "type": { + "id": "HP:0000027", + "label": "Azoospermia" + } + }, + { + "type": { + "id": "HP:0005938", + "label": "Abnormal respiratory motile cilium morphology" + } + }, + { + "type": { + "id": "HP:0008222", + "label": "Female infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618300", + "label": "Ciliary dyskinesia, primary, 40" + } + } + ], + "metaData": { + "created": "2024-06-11T17:51:24.867373Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_41_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_41_patient_1.json new file mode 100644 index 000000000..158c90059 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_41_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ciliary_dyskinesia,_primary,_41", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031603", + "label": "Impaired nasal mucociliary clearance" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618449", + "label": "Ciliary dyskinesia, primary, 41" + } + } + ], + "metaData": { + "created": "2024-06-11T18:48:46.058581Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_42_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_42_patient_1.json new file mode 100644 index 000000000..ddd7eee01 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_42_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ciliary_dyskinesia,_primary,_42", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002257", + "label": "Chronic rhinitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618695", + "label": "Ciliary dyskinesia, primary, 42" + } + } + ], + "metaData": { + "created": "2024-06-11T23:43:15.124960Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_43_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_43_patient_1.json new file mode 100644 index 000000000..54686834f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_43_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "ciliary_dyskinesia,_primary,_43", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010953", + "label": "Noncommunicating hydrocephalus" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0031245", + "label": "Productive cough" + } + }, + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0011109", + "label": "Chronic sinusitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618699", + "label": "Ciliary dyskinesia, primary, 43" + } + } + ], + "metaData": { + "created": "2024-06-11T18:21:02.988154Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_44_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_44_patient_1.json new file mode 100644 index 000000000..af04c841c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_44_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "ciliary_dyskinesia,_primary,_44", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011108", + "label": "Recurrent sinusitis" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618781", + "label": "Ciliary dyskinesia, primary, 44" + } + } + ], + "metaData": { + "created": "2024-06-11T22:38:31.876738Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_45_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_45_patient_1.json new file mode 100644 index 000000000..ba85636dd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_45_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "ciliary_dyskinesia,_primary,_45", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032101", + "label": "Unusual infection" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0012384", + "label": "Rhinitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618801", + "label": "Ciliary dyskinesia, primary, 45" + } + } + ], + "metaData": { + "created": "2024-06-11T21:14:23.427229Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_46_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_46_patient_1.json new file mode 100644 index 000000000..32ffa7136 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_46_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "ciliary_dyskinesia,_primary,_46", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011108", + "label": "Recurrent sinusitis" + } + }, + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0032356", + "label": "Decreased pre-bronchodilator forced vital capacity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619436", + "label": "Ciliary dyskinesia, primary, 46" + } + } + ], + "metaData": { + "created": "2024-06-11T19:21:12.120885Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_47_and_lissencephaly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_47_and_lissencephaly_patient_1.json new file mode 100644 index 000000000..e97a1da17 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_47_and_lissencephaly_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "ciliary_dyskinesia,_primary,_47,_and_lissencephaly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031602", + "label": "Abnormal mucociliary clearance" + } + }, + { + "type": { + "id": "HP:0007370", + "label": "Aplasia/Hypoplasia of the corpus callosum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619466", + "label": "Ciliary dyskinesia, primary, 47, and lissencephaly" + } + } + ], + "metaData": { + "created": "2024-06-11T21:49:43.543733Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_48_without_situs_inversus_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_48_without_situs_inversus_patient_1.json new file mode 100644 index 000000000..a43c87373 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_48_without_situs_inversus_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ciliary_dyskinesia,_primary,_48,_without_situs_inversus", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012264", + "label": "Absent central microtubular pair morphology of respiratory 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_49_without_situs_inversus_patient_1.json new file mode 100644 index 000000000..44fc00583 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_49_without_situs_inversus_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "ciliary_dyskinesia,_primary,_49,_without_situs_inversus", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0032559", + "label": "Short sperm flagella" + } + }, + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0011108", + "label": "Recurrent sinusitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620197", + "label": "Ciliary dyskinesia, primary, 49, without situs inversus" + } + } + ], + "metaData": { + "created": "2024-06-11T22:33:22.037677Z", + "createdBy": 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"ciliary_dyskinesia,_primary,_50", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032560", + "label": "Coiled sperm flagella" + } + }, + { + "type": { + "id": "HP:0011109", + "label": "Chronic sinusitis" + } + }, + { + "type": { + "id": "HP:0004469", + "label": "Chronic bronchitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620356", + "label": "Ciliary dyskinesia, primary, 50" + } + } + ], + "metaData": { + "created": "2024-06-11T22:29:42.158268Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_51_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_51_patient_1.json new file mode 100644 index 000000000..31b3ec4e3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_51_patient_1.json @@ -0,0 +1,86 @@ +{ + "id": "ciliary_dyskinesia,_primary,_51", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P23Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033393", + "label": "Irregularly shaped sperm tail" + } + }, + { + "type": { + "id": "HP:0000798", + "label": "Oligozoospermia" + } + }, + { + "type": { + "id": "HP:0002257", + "label": "Chronic rhinitis" + } + }, + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0012207", + "label": "Reduced sperm motility" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011462", + "label": "Young adult onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620438", + "label": "Ciliary dyskinesia, primary, 51" + } + } + ], + "metaData": { + "created": "2024-06-11T20:50:37.168443Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_52_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_52_patient_1.json new file mode 100644 index 000000000..a6e1b442c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_52_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "ciliary_dyskinesia,_primary,_52", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000403", + "label": "Recurrent otitis media" + } + }, + { + "type": { + "id": "HP:0001696", + "label": "Situs inversus totalis" + } + }, + { + "type": { + "id": "HP:0045017", + "label": "Congenital malformation of the left heart" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620570", + "label": "Ciliary dyskinesia, primary, 52" + } + } + ], + "metaData": { + "created": "2024-06-11T20:42:09.823343Z", + "createdBy": 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"ciliary_dyskinesia,_primary,_53", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011565", + "label": "Common atrium" + } + }, + { + "type": { + "id": "HP:0001655", + "label": "Patent foramen ovale" + } + }, + { + "type": { + "id": "HP:0012020", + "label": "Right aortic arch" + } + }, + { + "type": { + "id": "HP:0034196", + "label": "Ductus venosus agenesis" + } + }, + { + "type": { + "id": "HP:0033423", + "label": "Pulmonary arterial hypertension with positive acute response to NO challenge" + } + }, + { + "type": { + "id": "HP:0001305", + "label": "Dandy-Walker malformation" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0003363", + "label": "Abdominal situs inversus" + } + }, + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + }, + { + "type": { + "id": "HP:0004878", + "label": "Intercostal muscle weakness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620642", + "label": "Ciliary dyskinesia, primary, 53" + } + } + ], + "metaData": { + "created": "2024-06-11T23:13:50.276463Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_5_patient_1.json new file mode 100644 index 000000000..1086360bc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_5_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "ciliary_dyskinesia,_primary,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000403", + "label": "Recurrent otitis media" + } + }, + { + "type": { + "id": "HP:0012265", + "label": "Ciliary dyskinesia" + } + }, + { + "type": { + "id": "HP:0002878", + "label": "Respiratory failure" + } + }, + { + "type": { + "id": "HP:0011108", + "label": "Recurrent sinusitis" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0200073", + "label": "Respiratory insufficiency due to defective ciliary clearance" + } + }, + { + "type": { + "id": "HP:0025426", + "label": "Abnormal bronchus morphology" + } + }, + { + "type": { + "id": "HP:0012208", + "label": "Immotile sperm" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0004499", + "label": "Chronic rhinitis due to narrow nasal airway" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608647", + "label": "Ciliary dyskinesia, primary, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T23:48:04.428369Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_6_patient_1.json new file mode 100644 index 000000000..50b6e1c11 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_6_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ciliary_dyskinesia,_primary,_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002205", + "label": "Recurrent respiratory infections" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610852", + "label": "Ciliary dyskinesia, primary, 6" + } + } + ], + "metaData": { + "created": "2024-06-11T20:07:19.566862Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"label": "Decreased nasal nitric oxide" + } + }, + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0001651", + "label": "Dextrocardia" + } + }, + { + "type": { + "id": "HP:0012735", + "label": "Cough" + } + }, + { + "type": { + "id": "HP:0000403", + "label": "Recurrent otitis media" + } + }, + { + "type": { + "id": "HP:0012384", + "label": "Rhinitis" + } + }, + { + "type": { + "id": "HP:0012263", + "label": "Immotile cilia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611884", + "label": "Ciliary dyskinesia, primary, 7" + } + } + ], + "metaData": { + "created": "2024-06-11T22:56:34.974480Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_9_with_or_without_situs_inversus_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_9_with_or_without_situs_inversus_patient_1.json new file mode 100644 index 000000000..5e4397a18 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_primary_9_with_or_without_situs_inversus_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "ciliary_dyskinesia,_primary,_9,_with_or_without_situs_inversus", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012735", + "label": "Cough" + } + }, + { + "type": { + "id": "HP:0000403", + "label": "Recurrent otitis media" + } + }, + { + "type": { + "id": "HP:0001696", + "label": "Situs inversus totalis" + } + }, + { + "type": { + "id": "HP:0002643", + "label": "Neonatal respiratory distress" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612444", + "label": "Ciliary dyskinesia, primary, 9, with or without situs inversus" + } + } + ], + "metaData": { + "created": "2024-06-11T21:17:06.684189Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_with_defective_radial_spokes_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_with_defective_radial_spokes_patient_1.json new file mode 100644 index 000000000..ec32acdf9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ciliary_dyskinesia_with_defective_radial_spokes_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "ciliary_dyskinesia_with_defective_radial_spokes", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012267", + "label": "Absent respiratory ciliary axoneme radial spokes" + } + }, + { + "type": { + "id": "HP:0012208", + "label": "Immotile sperm" + } + }, + { + "type": { + "id": "HP:0012263", + "label": "Immotile cilia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:242670", + "label": "Ciliary dyskinesia with defective radial spokes" + } + } + ], + "metaData": { + "created": 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"subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000519", + "label": "Developmental cataract" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0012437", + "label": "Abnormal gallbladder morphology" + } + }, + { + "type": { + "id": "HP:0012758", + "label": "Neurodevelopmental delay" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0012443", + "label": "Abnormal brain morphology" + } + }, + { + "type": { + "id": "HP:0001262", + "label": "Excessive daytime somnolence" + } + }, + { + "type": { + "id": "HP:0002464", + "label": "Spastic dysarthria" + } + }, + { + "type": { + "id": "HP:0012758", + "label": "Neurodevelopmental delay" + } + }, + { + "type": { + "id": "HP:0030855", + "label": "Anterior staphyloma" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0006863", + "label": "Severe expressive language delay" + } + }, + { + "type": { + "id": "HP:0100578", + "label": "Lipoatrophy" + } + }, + { + "type": { + "id": "HP:0001433", + "label": "Hepatosplenomegaly" + } + }, + { + "type": { + "id": "HP:0002075", + "label": "Dysdiadochokinesis" + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619273", + "label": "Cimdag syndrome" + } + } + ], + "metaData": { 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+ "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011227", + "label": "Elevated circulating C-reactive protein concentration" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0000988", + "label": "Skin rash" + } + }, + { + "type": { + "id": "HP:0001974", + "label": "Leukocytosis" + } + }, + { + "type": { + "id": "HP:0000520", + "label": "Proptosis" + } + }, + { + "type": { + "id": "HP:0001369", + "label": "Arthritis" + } + }, + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0000988", + "label": "Skin rash" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0003565", + "label": "Elevated erythrocyte sedimentation rate" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0001954", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Circumvallate_placenta_syndrome_patient_1.json new file mode 100644 index 000000000..5ca33bacd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Circumvallate_placenta_syndrome_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "circumvallate_placenta_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002093", + "label": "Respiratory insufficiency" + } + }, + { + "type": { + "id": "HP:0000924", + "label": "Abnormality of the skeletal system" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:215550", + "label": "Circumvallate placenta syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:01:08.697164Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + 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"http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Citrulline_transport_defect_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Citrulline_transport_defect_patient_1.json new file mode 100644 index 000000000..d977b6330 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Citrulline_transport_defect_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "citrulline_transport_defect", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:215720", + "label": "Citrulline transport defect" + } + } + ], + "metaData": { + "created": "2024-06-11T22:38:18.451117Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Citrullinemia_classic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Citrullinemia_classic_patient_1.json new file mode 100644 index 000000000..affc0645d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Citrullinemia_classic_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "citrullinemia,_classic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001394", + "label": "Cirrhosis" + } + }, + { + "type": { + "id": "HP:0003218", + "label": "Oroticaciduria" + } + }, + { + "type": { + "id": "HP:6000353", + "label": "Reduced tissue argininosuccinate synthetase activity" + } + }, + { + "type": { + "id": "HP:0000737", + "label": "Irritability" + } + }, + { + "type": { + "id": "HP:0003217", + "label": "Hyperglutaminemia" + } + }, + { + "type": { + "id": "HP:0001950", + "label": "Respiratory alkalosis" + } + }, + { + "type": { + "id": "HP:0002013", + "label": "Vomiting" + } + }, + { + "type": { + "id": "HP:0011973", + "label": "Paroxysmal lethargy" + } + }, + { + "type": { + "id": "HP:0012736", + "label": "Profound global developmental delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:215700", + "label": "Citrullinemia, classic" + } + } + ], + "metaData": { + "created": "2024-06-11T20:41:45.773043Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Citrullinemia_type_II_adult_onset_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Citrullinemia_type_II_adult_onset_patient_1.json new file mode 100644 index 000000000..47e3d7861 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Citrullinemia_type_II_adult_onset_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "citrullinemia,_type_ii,_adult-onset", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006573", + "label": "Acute hepatic steatosis" + } + }, + { + "type": { + "id": "HP:0025630", + "label": "Argininosuccinic aciduria" + } + }, + { + "type": { + "id": "HP:0031964", + "label": "Elevated circulating alanine aminotransferase concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603471", + "label": "Citrullinemia, type II, adult-onset" + } + } + ], + "metaData": { + "created": "2024-06-11T23:30:20.525203Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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"label": "Elevated plasma citrulline" + } + }, + { + "type": { + "id": "HP:0012202", + "label": "Increased serum bile acid concentration" + } + }, + { + "type": { + "id": "HP:0012379", + "label": "Abnormal circulating enzyme concentration or activity" + } + }, + { + "type": { + "id": "HP:0003155", + "label": "Elevated circulating alkaline phosphatase concentration" + } + }, + { + "type": { + "id": "HP:0033479", + "label": "Abnormal circulating bilirubin concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605814", + "label": "Citrullinemia, type II, neonatal-onset" + } + } + ], + "metaData": { + "created": "2024-06-11T18:43:34.961227Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Clark_Baraitser_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Clark_Baraitser_syndrome_patient_1.json new file mode 100644 index 000000000..dab2a8ddc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Clark_Baraitser_syndrome_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "clark-baraitser_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001566", + "label": "Widely-spaced maxillary central incisors" + } + }, + { + "type": { + "id": "HP:0002816", + "label": "Genu recurvatum" + } + }, + { + "type": { + "id": "HP:0100884", + "label": "Compensatory scoliosis" + } + }, + { + "type": { + "id": "HP:0034669", + "label": "Abnormal knee morphology" + } + }, + { + "type": { + "id": "HP:0001182", + "label": "Tapered finger" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300602", + "label": "Clark-Baraitser syndrome" + } + } + ], + "metaData": { + "created": "2024-06-12T02:17:38.335794Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_Limb_Heart_malformation_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_Limb_Heart_malformation_syndrome_patient_1.json new file mode 100644 index 000000000..8ead5695b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_Limb_Heart_malformation_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cleft-limb-heart_malformation_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001660", + "label": "Truncus arteriosus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:215850", + "label": "Cleft-Limb-Heart malformation syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:25:23.041814Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_larynx_posteriorstridor_congenital_included_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_larynx_posteriorstridor_congenital_included_patient_1.json new file mode 100644 index 000000000..32390ce2d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_larynx_posteriorstridor_congenital_included_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cleft_larynx,_posteriorstridor,_congenital,_included", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0012049", + "label": "Laryngeal dystonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:215800", + "label": "Cleft larynx, posteriorstridor, congenital, included" + } + } + ], + "metaData": { + "created": "2024-06-11T22:50:29.738791Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_lip_palate_ectodermal_dysplasia_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_lip_palate_ectodermal_dysplasia_syndrome_patient_1.json new file mode 100644 index 000000000..b164de594 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_lip_palate_ectodermal_dysplasia_syndrome_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "cleft_lip/palate-ectodermal_dysplasia_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000674", + "label": "Anodontia" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0000411", + "label": "Protruding ear" + } + }, + { + "type": { + "id": "HP:0000653", + "label": "Sparse eyelashes" + } + }, + { + "type": { + "id": "HP:0010621", + "label": "Cutaneous syndactyly of toes" + } + }, + { + "type": { + "id": "HP:0011359", + "label": "Dry hair" + } + }, + { + "type": { + "id": "HP:0012647", + "label": "Abnormal inflammatory response" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0011362", + "label": "Abnormal hair quantity" + } + }, + { + "type": { + "id": "HP:0006101", + "label": "Finger syndactyly" + } + }, + { + "type": { + "id": "HP:0003777", + "label": "Pili torti" + } + }, + { + "type": { + "id": "HP:0009804", + "label": "Tooth agenesis" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0007497", + "label": "Focal friction-related palmoplantar hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0000163", + "label": "Abnormal oral cavity morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:225060", + "label": "Cleft lip/palate-ectodermal dysplasia syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T17:53:52.423232Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_lip_palate_with_abnormal_thumbs_and_microcephaly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_lip_palate_with_abnormal_thumbs_and_microcephaly_patient_1.json new file mode 100644 index 000000000..51956974b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_lip_palate_with_abnormal_thumbs_and_microcephaly_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "cleft_lip/palate_with_abnormal_thumbs_and_microcephaly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012373", + "label": "Abnormal eye physiology" + } + }, + { + "type": { + "id": "HP:0002553", + "label": "Highly arched eyebrow" + } + }, + { + "type": { + "id": "HP:0034185", + "label": "Median pseudocleft lip" + } + }, + { + "type": { + "id": "HP:0001545", + "label": "Anteriorly placed anus" + } + }, + { + "type": { + "id": "HP:0003995", + "label": "Abnormality of the radial head" + } + }, + { + "type": { + "id": "HP:0003510", + "label": "Severe short stature" + } + }, + { + "type": { + "id": "HP:0031072", + "label": "Abnormal endocrine physiology" + } + }, + { + "type": { + "id": "HP:0001376", + "label": "Limitation of joint mobility" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:216100", + "label": "Cleft lip/palate with abnormal thumbs and microcephaly" + } + } + ], + "metaData": { + "created": "2024-06-12T01:59:46.923125Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_median_of_upper_lip_with_polyps_of_facial_skin_and_nasal_mucosa_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_median_of_upper_lip_with_polyps_of_facial_skin_and_nasal_mucosa_patient_1.json new file mode 100644 index 000000000..d48ed1959 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_median_of_upper_lip_with_polyps_of_facial_skin_and_nasal_mucosa_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "cleft,_median,_of_upper_lip_with_polyps_of_facial_skin_and_nasal_mucosa", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0000161", + "label": "Median cleft upper lip" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0100006", + "label": "Neoplasm of the central nervous system" + } + }, + { + "type": { + "id": "HP:0000337", + "label": "Broad forehead" + } + }, + { + "type": { + "id": "HP:0000193", + "label": "Bifid uvula" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:155145", + "label": "Cleft, median, of upper lip with polyps of facial skin and nasal mucosa" + } + } + ], + "metaData": { + "created": "2024-06-11T21:04:48.386654Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_X_linked_patient_1.json new file mode 100644 index 000000000..0c398c206 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_X_linked_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cleft_palate,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000193", + "label": "Bifid uvula" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:303400", + "label": "Cleft palate, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T19:52:38.240217Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_cardiac_defect_genital_anomalies_and_ectrodactyly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_cardiac_defect_genital_anomalies_and_ectrodactyly_patient_1.json new file mode 100644 index 000000000..599d4c8e5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_cardiac_defect_genital_anomalies_and_ectrodactyly_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "cleft_palate,_cardiac_defect,_genital_anomalies,_and_ectrodactyly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000204", + "label": "Cleft upper lip" + } + }, + { + "type": { + "id": "HP:0001643", + "label": "Patent ductus arteriosus" + } + }, + { + "type": { + "id": "HP:0001171", + "label": "Split hand" + } + }, + { + "type": { + "id": "HP:0001217", + "label": "Clubbing" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600460", + "label": "Cleft palate, cardiac defect, genital anomalies, and ectrodactyly" + } + } + ], + "metaData": { + "created": "2024-06-11T20:58:33.461753Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_cardiac_defects_and_mental_retardation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_cardiac_defects_and_mental_retardation_patient_1.json new file mode 100644 index 000000000..11f89c5d4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_cardiac_defects_and_mental_retardation_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "cleft_palate,_cardiac_defects,_and_mental_retardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0045075", + "label": "Sparse eyebrow" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0001684", + "label": "Secundum atrial septal defect" + } + }, + { + "type": { + "id": "HP:0011344", + "label": "Severe global developmental delay" + } + }, + { + "type": { + "id": "HP:0002571", + "label": "Achalasia" + } + }, + { + "type": { + "id": "HP:0000729", + "label": "Autistic behavior" + } + }, + { + "type": { + "id": "HP:0002003", + "label": "Large forehead" + } + }, + { + "type": { + "id": "HP:0000490", + "label": "Deeply set eye" + } + }, + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal defect" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0011230", + "label": "Laterally extended eyebrow" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600987", + "label": "Cleft palate, cardiac defects, and mental retardation" + } + } + ], + "metaData": { + "created": "2024-06-11T18:41:38.600374Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_deafness_and_oligodontia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_deafness_and_oligodontia_patient_1.json new file mode 100644 index 000000000..efb96a4e1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_deafness_and_oligodontia_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cleft_palate,_deafness,_and_oligodontia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006349", + "label": "Agenesis of permanent teeth" + } + }, + { + "type": { + "id": "HP:0009804", + "label": "Tooth agenesis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:216300", + "label": "Cleft palate, deafness, and oligodontia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:41:32.914243Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_isolated_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_isolated_patient_1.json new file mode 100644 index 000000000..78e0b3eb0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_isolated_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "cleft_palate,_isolated", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000692", + "label": "Tooth malposition" + } + }, + { + "type": { + "id": "HP:0000212", + "label": "Gingival overgrowth" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0000692", + "label": "Tooth malposition" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:119540", + "label": "Cleft palate, isolated" + } + } + ], + "metaData": { + "created": "2024-06-11T19:29:44.773083Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_lateral_synechia_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_lateral_synechia_syndrome_patient_1.json new file mode 100644 index 000000000..c3fe0316d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_lateral_synechia_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cleft_palate-lateral_synechia_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:119550", + "label": "Cleft palate-lateral synechia syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:56:28.252845Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_proliferative_retinopathy_and_developmental_delay_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_proliferative_retinopathy_and_developmental_delay_patient_1.json new file mode 100644 index 000000000..7e038c749 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_proliferative_retinopathy_and_developmental_delay_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "cleft_palate,_proliferative_retinopathy,_and_developmental_delay", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0000322", + "label": "Short philtrum" + } + }, + { + "type": { + "id": "HP:0030666", + "label": "Retinal neovascularization" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0001047", + "label": "Atopic dermatitis" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619074", + "label": "Cleft palate, proliferative retinopathy, and developmental delay" + } + } + ], + "metaData": { + "created": "2024-06-11T21:08:00.191834Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_psychomotor_retardation_and_distinctive_facial_features_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_psychomotor_retardation_and_distinctive_facial_features_patient_1.json new file mode 100644 index 000000000..192393b77 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_palate_psychomotor_retardation_and_distinctive_facial_features_patient_1.json @@ -0,0 +1,165 @@ +{ + "id": "cleft_palate,_psychomotor_retardation,_and_distinctive_facial_features", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0002714", + "label": "Downturned corners of mouth" + } + }, + { + "type": { + "id": "HP:0000687", + "label": "Widely spaced teeth" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0012430", + "label": "Cerebral white matter hypoplasia" + } + }, + { + "type": { + "id": "HP:0004209", + "label": "Clinodactyly of the 5th finger" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0000248", + "label": "Brachycephaly" + } + }, + { + "type": { + "id": "HP:0006895", + "label": "Lower limb hypertonia" + } + }, + { + "type": { + "id": "HP:0002188", + "label": "Delayed CNS myelination" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0002144", + "label": "Tethered cord" + } + }, + { + "type": { + "id": "HP:0003396", + "label": "Syringomyelia" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:0009778", + "label": "Short thumb" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0002553", + "label": "Highly arched eyebrow" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616728", + "label": "Cleft palate, psychomotor retardation, and distinctive facial features" + } + } + ], + "metaData": { + "created": "2024-06-11T18:08:09.151533Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_soft_palate_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_soft_palate_patient_1.json new file mode 100644 index 000000000..11b915ad0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleft_soft_palate_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cleft_soft_palate", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000185", + "label": "Cleft soft palate" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:119570", + "label": "Cleft soft palate" + } + } + ], + "metaData": { + "created": "2024-06-11T22:22:58.367815Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleidocranial_dysplasia_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleidocranial_dysplasia_2_patient_1.json new file mode 100644 index 000000000..1e9725dc4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleidocranial_dysplasia_2_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "cleidocranial_dysplasia_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009882", + "label": "Short distal phalanx of finger" + } + }, + { + "type": { + "id": "HP:0008788", + "label": "Delayed pubic bone ossification" + } + }, + { + "type": { + "id": "HP:0000307", + "label": "Pointed chin" + } + }, + { + "type": { + "id": "HP:0001216", + "label": "Delayed ossification of carpal bones" + } + }, + { + "type": { + "id": "HP:0001357", + "label": "Plagiocephaly" + } + }, + { + "type": { + "id": "HP:0006585", + "label": "Congenital pseudoarthrosis of the clavicle" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0200021", + "label": "Down-sloping shoulders" + } + }, + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0011304", + "label": "Broad thumb" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0000894", + "label": "Short clavicles" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620099", + "label": "Cleidocranial dysplasia 2" + } + } + ], + "metaData": { + "created": "2024-06-11T17:46:40.438259Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleidocranial_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleidocranial_dysplasia_patient_1.json new file mode 100644 index 000000000..04553b190 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleidocranial_dysplasia_patient_1.json @@ -0,0 +1,165 @@ +{ + "id": "cleidocranial_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006660", + "label": "Aplastic clavicle" + } + }, + { + "type": { + "id": "HP:0004474", + "label": "Persistent open anterior fontanelle" + } + }, + { + "type": { + "id": "HP:0000242", + "label": "Parietal bossing" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0002688", + "label": "Absent frontal sinuses" + } + }, + { + "type": { + "id": "HP:0000239", + "label": "Large fontanelles" + } + }, + { + "type": { + "id": "HP:0002705", + "label": "High, narrow palate" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0011001", + "label": "Increased bone mineral density" + } + }, + { + "type": { + "id": "HP:0003183", + "label": "Wide pubic symphysis" + } + }, + { + "type": { + "id": "HP:0006483", + "label": "Abnormal number of teeth" + } + }, + { + "type": { + "id": "HP:0004633", + "label": "Lower thoracic kyphosis" + } + }, + { + "type": { + "id": "HP:0003423", + "label": "Thoracolumbar kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0005259", + "label": "Abnormal facility in opposing the shoulders" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0009121", + "label": "Abnormal axial skeleton morphology" + } + }, + { + "type": { + "id": "HP:0006713", + "label": "Aplasia/Hypoplasia of the scapulae" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:119600", + "label": "Cleidocranial dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T21:28:29.363469Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleidocranial_dysplasia_recessive_form_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleidocranial_dysplasia_recessive_form_patient_1.json new file mode 100644 index 000000000..0ed1fc331 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleidocranial_dysplasia_recessive_form_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cleidocranial_dysplasia,_recessive_form", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000248", + "label": "Brachycephaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:216330", + "label": "Cleidocranial dysplasia, recessive form" + } + } + ], + "metaData": { + "created": "2024-06-11T18:17:53.027586Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleidorhizomelic_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleidorhizomelic_syndrome_patient_1.json new file mode 100644 index 000000000..4f863b411 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cleidorhizomelic_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cleidorhizomelic_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004220", + "label": "Short middle phalanx of the 5th finger" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:119650", + "label": "Cleidorhizomelic syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:56:39.816920Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Clouston_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Clouston_syndrome_patient_1.json new file mode 100644 index 000000000..877ae906e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Clouston_syndrome_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "clouston_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002299", + "label": "Brittle hair" + } + }, + { + "type": { + "id": "HP:0001596", + "label": "Alopecia" + } + }, + { + "type": { + "id": "HP:0001792", + "label": "Small nail" + } + }, + { + "type": { + "id": "HP:0002555", + "label": "Absent pubic hair" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:0002164", + "label": "Nail dysplasia" + } + }, + { + "type": { + "id": "HP:0000953", + "label": "Hyperpigmentation of the skin" + } + }, + { + "type": { + "id": "HP:0001421", + "label": "Abnormality of the musculature of the hand" + } + }, + { + "type": { + "id": "HP:0001595", + "label": "Abnormal hair morphology" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0033781", + "label": "Tapered tooth" + } + }, + { + "type": { + "id": "HP:0002221", + "label": "Absent axillary hair" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:129500", + "label": "Clouston syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:19:59.083738Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Clubfoot_congenital_with_or_without_deficiency_of_long_bones_and_or_mirror_image_polydactyly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Clubfoot_congenital_with_or_without_deficiency_of_long_bones_and_or_mirror_image_polydactyly_patient_1.json new file mode 100644 index 000000000..c29e480e9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Clubfoot_congenital_with_or_without_deficiency_of_long_bones_and_or_mirror_image_polydactyly_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "clubfoot,_congenital,_with_or_without_deficiency_of_long_bones_and/or_mirror-image_polydactyly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005656", + "label": "Positional foot deformity" + } + }, + { + "type": { + "id": "HP:5201015", + "label": "Craniofacial cleft" + } + }, + { + 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} + }, + { + "type": { + "id": "HP:0200148", + "label": "Abnormal liver function tests during pregnancy" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0030745", + "label": "Dilatation of the ductus arteriosus" + } + }, + { + "type": { + "id": "HP:0430034", + "label": "Hypertension resistant to conventional therapy" + } + }, + { + "type": { + "id": "HP:0002040", + "label": "Esophageal varix" + } + }, + { + "type": { + "id": "HP:0001433", + "label": "Hepatosplenomegaly" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0000122", + "label": "Unilateral renal agenesis" + } + }, + { + "type": { + "id": "HP:0410042", + "label": "Abnormal liver morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:216360", + "label": "Coach 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000000000..340ebe4d0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Coarctation_of_aorta_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "coarctation_of_aorta", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001680", + "label": "Coarctation of aorta" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:120000", + "label": "Coarctation of aorta" + } + } + ], + "metaData": { + "created": "2024-06-11T18:10:42.529277Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Coats_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Coats_disease_patient_1.json new file mode 100644 index 000000000..17a35881e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Coats_disease_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "coats_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007763", + "label": "Retinal telangiectasia" + }, + "modifiers": [ + { + "id": "HP:0012833", + "label": "Unilateral" + } + ] + }, + { + "type": { + "id": "HP:0012231", + "label": "Exudative retinal detachment" + }, + "modifiers": [ + { + "id": "HP:0012833", + "label": "Unilateral" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300216", + "label": "Coats disease" + } + } + ], + "metaData": { + "created": "2024-06-11T22:53:05.015583Z", + 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file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Coffin_siris_syndrome_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Coffin_siris_syndrome_6_patient_1.json new file mode 100644 index 000000000..a4c8cc7f6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Coffin_siris_syndrome_6_patient_1.json @@ -0,0 +1,189 @@ +{ + "id": "coffin-siris_syndrome_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006008", + "label": "Unilateral brachydactyly" + } + }, + { + "type": { + "id": "HP:0045025", + "label": "Narrow palpebral fissure" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0002705", + "label": "High, narrow palate" + } + }, + { + "type": { + "id": "HP:5200019", + "label": "Stereotypic whole-body movements" + } + }, + { + "type": { + 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], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cole_Carpenter_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cole_Carpenter_syndrome_1_patient_1.json new file mode 100644 index 000000000..d6399f05a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cole_Carpenter_syndrome_1_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "cole-carpenter_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000520", + "label": "Proptosis" + } + }, + { + "type": { + "id": "HP:0000703", + "label": "Dentinogenesis imperfecta" + } + }, + { + "type": { + "id": "HP:0004440", + "label": "Coronal craniosynostosis" + } + }, + { + "type": { + "id": "HP:0002953", + "label": "Vertebral compression fracture" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0006482", + "label": "Abnormal dental morphology" + } + }, + { + "type": { + "id": "HP:0011843", + "label": "Abnormal musculoskeletal physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:112240", + "label": "Cole-Carpenter syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-12T00:14:14.620472Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cole_Carpenter_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cole_Carpenter_syndrome_2_patient_1.json new file mode 100644 index 000000000..8fe27ffac --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cole_Carpenter_syndrome_2_patient_1.json @@ -0,0 +1,153 @@ +{ + "id": "cole-carpenter_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000325", + "label": "Triangular face" + } + }, + { + "type": { + "id": "HP:0000926", + "label": "Platyspondyly" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + } + }, + { + "type": { + "id": "HP:0001562", + "label": "Oligohydramnios" + } + }, + { + "type": { + "id": "HP:0004440", + "label": "Coronal craniosynostosis" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0010537", + "label": "Wide cranial 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"term": { + "id": "OMIM:616294", + "label": "Cole-Carpenter syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:49:08.591182Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cole_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cole_disease_patient_1.json new file mode 100644 index 000000000..21465c101 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cole_disease_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "cole_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000982", + "label": "Palmoplantar keratoderma" + } + }, + { + "type": { + "id": "HP:0045059", + "label": "Hyperkeratotic papule" + } + }, + { + "type": { + "id": "HP:0011368", + "label": "Epidermal thickening" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615522", + "label": "Cole disease" + } + } + ], + "metaData": { + "created": "2024-06-11T20:38:47.857709Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Collagenoma_familial_cutaneous_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Collagenoma_familial_cutaneous_patient_1.json new file mode 100644 index 000000000..9b4cba699 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Collagenoma_familial_cutaneous_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "collagenoma,_familial_cutaneous", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005180", + "label": "Tricuspid regurgitation" + } + }, + { + "type": { + "id": "HP:0001635", + "label": "Congestive 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end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Collagenosis_familial_reactive_perforating_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Collagenosis_familial_reactive_perforating_patient_1.json new file mode 100644 index 000000000..07b8a3555 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Collagenosis_familial_reactive_perforating_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "collagenosis,_familial_reactive_perforating", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001939", + "label": "Abnormality of metabolism/homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:216700", + "label": "Collagenosis, familial reactive perforating" + } + } + ], + "metaData": { + "created": "2024-06-11T23:24:55.692447Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Coloboma_Obesity_Hypogenitalism_Mental_retardation_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Coloboma_Obesity_Hypogenitalism_Mental_retardation_syndrome_patient_1.json new file mode 100644 index 000000000..e94dfc91c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Coloboma_Obesity_Hypogenitalism_Mental_retardation_syndrome_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "coloboma-obesity-hypogenitalism-mental_retardation_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006889", + "label": "Intellectual disability, borderline" + } + }, + { + "type": { + "id": "HP:0008915", + "label": "Childhood-onset truncal obesity" + } + }, + { + "type": { + "id": "HP:0031614", + "label": "Inferior retinal coloboma" + } + }, + { + "type": { + "id": "HP:0001118", + "label": "Juvenile cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601794", + "label": "Coloboma-Obesity-Hypogenitalism-Mental retardation syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:44:20.194844Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": 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"Nystagmus" + } + }, + { + "type": { + "id": "HP:0000565", + "label": "Esotropia" + } + }, + { + "type": { + "id": "HP:0000480", + "label": "Retinal coloboma" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0001115", + "label": "Posterior polar cataract" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:216820", + "label": "Coloboma, ocular, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T21:56:53.064585Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Coloboma_ocular_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Coloboma_ocular_patient_1.json new file mode 100644 index 000000000..39e1042ef --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Coloboma_ocular_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "coloboma,_ocular", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012521", + "label": "Optic nerve aplasia" + } + }, + { + "type": { + "id": "HP:0000588", + "label": "Optic disc coloboma" + } + }, + { + "type": { + "id": "HP:0025514", + "label": "Morning glory anomaly" + } + }, + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + } + }, + { + "type": { + "id": "HP:0000659", + "label": "Peters anomaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:120200", + "label": "Coloboma, ocular" + } + } + ], + "metaData": { + "created": "2024-06-11T18:02:08.033539Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Coloboma_ocular_with_or_without_hearing_impairment_cleft_lip_palate_and_or_mental_retardation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Coloboma_ocular_with_or_without_hearing_impairment_cleft_lip_palate_and_or_mental_retardation_patient_1.json new file mode 100644 index 000000000..379292966 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Coloboma_ocular_with_or_without_hearing_impairment_cleft_lip_palate_and_or_mental_retardation_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "coloboma,_ocular,_with_or_without_hearing_impairment,_cleft_lip/palate,_and/or_mental_retardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000567", + "label": "Chorioretinal coloboma" + } + }, + { + "type": { + "id": "HP:0000204", + "label": "Cleft upper lip" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0000364", + "label": "Hearing abnormality" + } + }, + { + "type": { + "id": "HP:0011144", + "label": "Age-related posterior subcapsular cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:120433", + "label": "Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation" + } + } + ], + "metaData": { + "created": "2024-06-11T22:57:20.994573Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Coloboma_of_macula_and_skeletal_anomalies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Coloboma_of_macula_and_skeletal_anomalies_patient_1.json new file mode 100644 index 000000000..67da8b9e1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Coloboma_of_macula_and_skeletal_anomalies_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "coloboma_of_macula_and_skeletal_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001116", + "label": "Macular coloboma" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0010665", + "label": "Bilateral coxa valga" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:216800", + "label": "Coloboma of macula and skeletal anomalies" + } + } + ], + "metaData": { + "created": "2024-06-11T20:34:22.330493Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Coloboma_of_macula_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Coloboma_of_macula_patient_1.json new file mode 100644 index 000000000..ba1f0397e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Coloboma_of_macula_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "coloboma_of_macula", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001116", + "label": "Macular coloboma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:120300", + "label": "Coloboma of macula" + } + } + ], + "metaData": { + "created": "2024-06-11T20:03:39.103295Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Coloboma_of_macula_with_type_B_brachydactyly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Coloboma_of_macula_with_type_B_brachydactyly_patient_1.json new file mode 100644 index 000000000..785e7f4d7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Coloboma_of_macula_with_type_B_brachydactyly_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "coloboma_of_macula_with_type_b_brachydactyly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005831", + "label": "Type B brachydactyly" + } + }, + { + "type": { + "id": "HP:0009642", + "label": "Broad distal phalanx of the thumb" + } + }, + { + "type": { + "id": "HP:0005807", + "label": "Absent distal phalanges" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:120400", + "label": "Coloboma of macula with type B brachydactyly" + } + } + ], + "metaData": { + "created": "2024-06-11T18:47:53.690066Z", 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Coloboma_of_optic_nerveoptic_nerve_head_pits_bilateral_congenital_included_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "coloboma_of_optic_nerveoptic_nerve_head_pits,_bilateral_congenital,_included", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000588", + "label": "Optic disc coloboma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:120430", + "label": "Coloboma of optic nerveoptic nerve head pits, bilateral congenital, included" + } + } + ], + "metaData": { + "created": "2024-06-11T23:21:47.958824Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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file mode 100644 index 000000000..383bfb209 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorblindness_partial_protan_series_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "colorblindness,_partial,_protan_series", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200018", + "label": "Protanomaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:303900", + "label": "Colorblindness, partial, protan series" + } + } + ], + "metaData": { + "created": "2024-06-12T01:42:06.388533Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_hereditary_nonpolyposis_type_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_hereditary_nonpolyposis_type_2_patient_1.json new file mode 100644 index 000000000..4116fdce1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_hereditary_nonpolyposis_type_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "colorectal_cancer,_hereditary_nonpolyposis,_type_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003003", + "label": "Colon cancer" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609310", + "label": "Colorectal cancer, hereditary nonpolyposis, type 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:30:20.548924Z", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_hereditary_nonpolyposis_type_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "colorectal_cancer,_hereditary_nonpolyposis,_type_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012114", + "label": "Endometrial carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614337", + "label": "Colorectal cancer, hereditary nonpolyposis, type 4" + } + } + ], + "metaData": { + "created": "2024-06-11T23:27:15.338552Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_hereditary_nonpolyposis_type_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_hereditary_nonpolyposis_type_5_patient_1.json new file mode 100644 index 000000000..f3a4fc54d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_hereditary_nonpolyposis_type_5_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "colorectal_cancer,_hereditary_nonpolyposis,_type_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010787", + "label": "Genital neoplasm" + } + }, + { + "type": { + "id": "HP:0002894", + "label": "Neoplasm of the pancreas" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614350", + "label": "Colorectal cancer, hereditary nonpolyposis, type 5" + } + } + ], 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_hereditary_nonpolyposis_type_6_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "colorectal_cancer,_hereditary_nonpolyposis,_type_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006716", + "label": "Hereditary nonpolyposis colorectal carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614331", + "label": "Colorectal cancer, hereditary nonpolyposis, type 6" + } + } + ], + "metaData": { + "created": "2024-06-12T02:18:12.281521Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_hereditary_nonpolyposis_type_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_hereditary_nonpolyposis_type_7_patient_1.json new file mode 100644 index 000000000..af93e293b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_hereditary_nonpolyposis_type_7_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "colorectal_cancer,_hereditary_nonpolyposis,_type_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006716", + "label": "Hereditary nonpolyposis colorectal carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614385", + "label": "Colorectal cancer, hereditary nonpolyposis, type 7" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_hereditary_nonpolyposis_type_8_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "colorectal_cancer,_hereditary_nonpolyposis,_type_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006716", + "label": "Hereditary nonpolyposis colorectal carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613244", + "label": "Colorectal cancer, hereditary nonpolyposis, type 8" + } + } + ], + "metaData": { + "created": "2024-06-11T19:02:34.780089Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_patient_1.json new file mode 100644 index 000000000..01bb37f4c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "colorectal_cancer", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006740", + "label": "Transitional cell carcinoma of the bladder" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:114500", + "label": "Colorectal cancer" + } + } + ], + "metaData": { + "created": "2024-06-11T19:32:27.041634Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_susceptibility_to_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_susceptibility_to_10_patient_1.json new file mode 100644 index 000000000..df23762c9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_susceptibility_to_10_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "colorectal_cancer,_susceptibility_to,_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006716", + "label": "Hereditary nonpolyposis colorectal carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612591", + "label": "Colorectal cancer, susceptibility to, 10" + } + } + ], + "metaData": { + "created": "2024-06-11T22:42:31.016365Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_susceptibility_to_12_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_susceptibility_to_12_patient_1.json new file mode 100644 index 000000000..a0f126d93 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_susceptibility_to_12_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "colorectal_cancer,_susceptibility_to,_12", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030731", + "label": "Carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615083", + "label": "Colorectal cancer, susceptibility to, 12" + } + } + ], + "metaData": { + "created": "2024-06-11T19:40:22.876769Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_susceptibility_to_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_susceptibility_to_3_patient_1.json new file mode 100644 index 000000000..d9f529c70 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Colorectal_cancer_susceptibility_to_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "colorectal_cancer,_susceptibility_to,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003003", + "label": "Colon cancer" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612229", + "label": "Colorectal cancer, susceptibility to, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T17:43:07.828649Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Combined_D_2_and_L_2_hydroxyglutaric_aciduria_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Combined_D_2_and_L_2_hydroxyglutaric_aciduria_patient_1.json new file mode 100644 index 000000000..c81166160 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Combined_D_2_and_L_2_hydroxyglutaric_aciduria_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "combined_d-2-_and_l-2-hydroxyglutaric_aciduria", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0012402", + "label": "Increased urine alpha-ketoglutarate concentration" + } + }, + { + "type": { + "id": "HP:0000297", + "label": "Facial hypotonia" + } + }, + { + "type": { + "id": "HP:0100622", + "label": "Maternal seizure" + } + }, + { + "type": { + "id": "HP:0040194", + "label": "Increased head circumference" + } + }, + { + "type": { + "id": "HP:0011343", + "label": "Moderate global developmental delay" + } + }, + { + "type": { + "id": "HP:0033354", + "label": "Abnormal urine metabolite level" + } + }, + { + "type": { + "id": "HP:0003808", + "label": "Abnormal muscle tone" + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615182", + "label": "Combined D-2- and L-2-hydroxyglutaric aciduria" + } + } + ], + "metaData": { + "created": "2024-06-11T18:15:31.871993Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Combined_cellular_and_humoral_immune_defects_with_granulomas_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Combined_cellular_and_humoral_immune_defects_with_granulomas_patient_1.json new file mode 100644 index 000000000..b3c106583 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Combined_cellular_and_humoral_immune_defects_with_granulomas_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "combined_cellular_and_humoral_immune_defects_with_granulomas", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005387", + "label": "Combined immunodeficiency" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:233650", + "label": "Combined cellular and humoral immune defects with granulomas" + } + } + ], + "metaData": { + "created": "2024-06-11T22:31:00.275754Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": 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"HP:0034286", + "label": "Pneumocystis carinii pneumonia" + } + }, + { + "type": { + "id": "HP:0002837", + "label": "Recurrent bronchitis" + } + }, + { + "type": { + "id": "HP:0005415", + "label": "Decreased proportion of CD8-positive T cells" + } + }, + { + "type": { + "id": "HP:0002090", + "label": "Pneumonia" + } + }, + { + "type": { + "id": "HP:0000388", + "label": "Otitis media" + } + }, + { + "type": { + "id": "HP:0000246", + "label": "Sinusitis" + } + }, + { + "type": { + "id": "HP:0005407", + "label": "Decreased proportion of CD4-positive helper T cells" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:312863", + "label": "Combined immunodeficiency, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T19:33:14.550302Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Combined_immunodeficiency_and_megaloblastic_anemia_with_or_without_hyperhomocysteinemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Combined_immunodeficiency_and_megaloblastic_anemia_with_or_without_hyperhomocysteinemia_patient_1.json new file mode 100644 index 000000000..3a2d4c45b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Combined_immunodeficiency_and_megaloblastic_anemia_with_or_without_hyperhomocysteinemia_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "combined_immunodeficiency_and_megaloblastic_anemia_with_or_without_hyperhomocysteinemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002719", + "label": "Recurrent infections" + } + }, + { + "type": { + "id": "HP:0002013", + "label": "Vomiting" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0001889", + "label": "Megaloblastic anemia" + } + }, + { + "type": { + "id": "HP:0000964", + "label": "Eczematoid dermatitis" + } + }, + { + "type": { + "id": "HP:0004821", + "label": "Hypersegmentation of neutrophil nuclei" + } + }, + { + "type": { + "id": "HP:0025406", + "label": "Asthenia" + } + }, + { + "type": { + "id": "HP:0025517", + "label": "Hypoplastic hippocampus" + } + }, + { + "type": { + "id": "HP:0025435", + "label": "Increased circulating lactate dehydrogenase concentration" + } + }, + { + "type": { + "id": "HP:0001888", + "label": "Lymphopenia" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0001876", + "label": "Pancytopenia" + } + }, + { + "type": { + "id": "HP:0003139", + "label": "Panhypogammaglobulinemia" + } + }, + { + "type": { + "id": "HP:0004430", + "label": "Severe combined immunodeficiency" + } + }, + { + "type": { + "id": "HP:0011875", + "label": "Abnormal platelet morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617780", + "label": "Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:23:04.206001Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Combined_low_LDL_and_fibrinogen_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Combined_low_LDL_and_fibrinogen_patient_1.json new file mode 100644 index 000000000..f9f4f0e5e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Combined_low_LDL_and_fibrinogen_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "combined_low_ldl_and_fibrinogen", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011900", + "label": "Hypofibrinogenemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620364", + "label": "Combined low LDL and fibrinogen" + } + } + ], + "metaData": { + "created": "2024-06-11T19:58:06.252825Z", + "createdBy": 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+ "id": "combined_malonic_and_methylmalonic_aciduria", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002014", + "label": "Diarrhea" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614265", + "label": "Combined malonic and methylmalonic aciduria" + } + } + ], + "metaData": { + "created": "2024-06-11T19:04:34.156123Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Combined_osteogenesis_imperfecta_and_Ehlers_Danlos_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Combined_osteogenesis_imperfecta_and_Ehlers_Danlos_syndrome_1_patient_1.json new file mode 100644 index 000000000..c1ce5c492 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Combined_osteogenesis_imperfecta_and_Ehlers_Danlos_syndrome_1_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "combined_osteogenesis_imperfecta_and_ehlers-danlos_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0010648", + "label": "Dermal translucency" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0002757", + "label": "Recurrent fractures" + } + }, + { + "type": { + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Combined_osteogenesis_imperfecta_and_Ehlers_Danlos_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Combined_osteogenesis_imperfecta_and_Ehlers_Danlos_syndrome_2_patient_1.json new file mode 100644 index 000000000..4437dd4d8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Combined_osteogenesis_imperfecta_and_Ehlers_Danlos_syndrome_2_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "combined_osteogenesis_imperfecta_and_ehlers-danlos_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000974", + "label": "Hyperextensible skin" + } + }, + { + "type": { + "id": "HP:0010648", + "label": "Dermal translucency" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619120", + "label": "Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2" + } + } + 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"iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_component_3_deficiency_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_component_3_deficiency_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..2de66b8c0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_component_3_deficiency_autosomal_recessive_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "complement_component_3_deficiency,_autosomal_recessive", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P23Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011110", + "label": "Recurrent tonsillitis" + } + }, + { + "type": { + "id": "HP:0012211", + "label": "Abnormal renal physiology" + } + }, + { + "type": { + "id": "HP:0033087", + "label": "Quotidian fever" + } + }, + { + "type": { + "id": "HP:0032101", + "label": "Unusual infection" + } + }, + { + "type": { + "id": "HP:0002960", + "label": "Autoimmunity" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011462", + "label": "Young adult onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613779", + "label": "Complement component 3 deficiency, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T19:56:59.241907Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_component_4A_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_component_4A_deficiency_patient_1.json new file mode 100644 index 000000000..f68ddd92f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_component_4A_deficiency_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "complement_component_4a_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000979", + "label": "Purpura" + } + }, + { + "type": { + "id": "HP:0002725", + "label": "Systemic lupus erythematosus" + } + }, + { + "type": { + "id": "HP:0000099", + "label": "Glomerulonephritis" + } + }, + { + "type": { + "id": "HP:0031904", + "label": "Abnormal total hemolytic complement activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614380", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_component_4B_deficiency_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "complement_component_4b_deficiency", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006532", + "label": "Recurrent pneumonia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0012647", + "label": "Abnormal inflammatory response" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0045044", + "label": "Decreased circulating complement C4b concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614379", + "label": "Complement component 4B deficiency" + } + } + ], + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_component_4_partial_deficiency_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "complement_component_4,_partial_deficiency_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002725", + "label": "Systemic lupus erythematosus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:120790", + "label": "Complement component 4, partial deficiency of" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:38.269215Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_component_8_deficiency_type_II_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_component_8_deficiency_type_II_patient_1.json new file mode 100644 index 000000000..95d3026fb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_component_8_deficiency_type_II_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "complement_component_8_deficiency,_type_ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004434", + "label": "Decreased circulating complement C8 concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613789", + "label": "Complement component 8 deficiency, type II" + } + } + ], + "metaData": { + "created": "2024-06-11T22:27:55.762201Z", + "createdBy": 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"complement_component_8_deficiency,_type_i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004434", + "label": "Decreased circulating complement C8 concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613790", + "label": "Complement component 8 deficiency, type I" + } + } + ], + "metaData": { + "created": "2024-06-11T19:34:51.309981Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_component_9_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_component_9_deficiency_patient_1.json new file mode 100644 index 000000000..51ffd36bd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_component_9_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "complement_component_9_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012308", + "label": "Decreased circulating complement C9 concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613825", + "label": "Complement component 9 deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T22:19:01.204813Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_component_c1r_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_component_c1r_deficiency_patient_1.json new file mode 100644 index 000000000..1080b76a0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_component_c1r_deficiency_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "complement_component_c1r_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004431", + "label": "Reduced circulating complement concentration" + } + }, + { + "type": { + "id": "HP:0002960", + "label": "Autoimmunity" + } + }, + { + "type": { + "id": "HP:0012531", + "label": "Pain" + } + }, + { + "type": { + "id": "HP:0100501", + "label": "Recurrent bronchiolitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:216950", + "label": "Complement component c1r deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T21:46:10.864989Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_component_c1s_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_component_c1s_deficiency_patient_1.json new file mode 100644 index 000000000..46f036275 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_component_c1s_deficiency_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "complement_component_c1s_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005339", + "label": "Abnormality of complement system" + } + }, + { + "type": { + "id": "HP:0012115", + "label": "Hepatitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613783", + "label": "Complement component c1s deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T20:26:20.328950Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_factor_B_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_factor_B_deficiency_patient_1.json new file mode 100644 index 000000000..3519f7e44 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_factor_B_deficiency_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "complement_factor_b_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004431", + "label": "Reduced circulating complement concentration" + } + }, + { + "type": { + "id": "HP:0011274", + "label": "Recurrent mycobacterial infections" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615561", + "label": "Complement factor B deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T23:30:40.933275Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_factor_D_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_factor_D_deficiency_patient_1.json new file mode 100644 index 000000000..4abc5b23f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_factor_D_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "complement_factor_d_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008338", + "label": "Partial functional complement factor D deficiency" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613912", + "label": "Complement factor D deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T19:11:31.510776Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_factor_H_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_factor_H_deficiency_patient_1.json new file mode 100644 index 000000000..dff5ce5a4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_factor_H_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "complement_factor_h_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000790", + "label": "Hematuria" + } + } + ], + "diseases": [ + { + "term": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Complement_factor_I_deficiency_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "complement_factor_i_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001581", + "label": "Recurrent skin infections" + } + }, + { + "type": { + "id": "HP:0003095", + "label": "Septic arthritis" + } + }, + { + "type": { + "id": "HP:0000010", + "label": "Recurrent urinary tract infections" + } + }, + { + "type": { + "id": "HP:0005376", + "label": "Recurrent Haemophilus influenzae infections" + } + }, + { + "type": { + "id": "HP:0005356", + "label": "Decreased circulating complement factor I concentration" + } + }, + { + "type": { + "id": "HP:0002633", + "label": "Vasculitis" + } + }, + { + "type": { + "id": "HP:0000095", + "label": "Abnormal renal glomerulus morphology" + } + }, + { + "type": { + "id": "HP:0004431", + "label": "Reduced circulating complement concentration" + } + } + ], + "diseases": [ + 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+++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_dystrophy_10_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "cone-rod_dystrophy_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009926", + "label": "Epiphora" + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + }, + { + "type": { + "id": "HP:0000608", + "label": "Macular degeneration" + } + }, + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610283", + "label": "Cone-Rod dystrophy 10" + } + } + ], + "metaData": { + "created": "2024-06-11T22:01:18.317114Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_dystrophy_19_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_dystrophy_19_patient_1.json new file mode 100644 index 000000000..f7ff38a3b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_dystrophy_19_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cone-rod_dystrophy_19", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030629", + "label": "Perifoveal ring of hyperautofluorescence" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615860", + "label": "Cone-Rod dystrophy 19" + } + } + ], + "metaData": { + "created": "2024-06-11T19:31:35.267706Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_dystrophy_20_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "cone-rod_dystrophy_20", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0001123", + "label": "Visual field defect" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0007811", + "label": "Horizontal pendular nystagmus" + } + }, + { + "type": { + "id": "HP:0030526", + "label": "Severe constriction of peripheral visual field" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615973", + "label": "Cone-Rod dystrophy 20" + } + } + ], + "metaData": { + "created": "2024-06-11T19:17:06.689383Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", 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--git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_dystrophy_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_dystrophy_5_patient_1.json new file mode 100644 index 000000000..d03538215 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_dystrophy_5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cone-rod_dystrophy_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007814", + "label": "Retinal pigment epithelial mottling" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600977", + "label": "Cone-Rod dystrophy 5" + } + } + ], + "metaData": { + "created": "2024-06-11T22:53:36.046535Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_dystrophy_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_dystrophy_6_patient_1.json new file mode 100644 index 000000000..0e51cea19 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_dystrophy_6_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "cone-rod_dystrophy_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + }, + { + "type": { + "id": "HP:0007903", + "label": "Paravenous chorioretinal atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601777", + "label": "Cone-Rod dystrophy 6" + } + } + ], + "metaData": { + "created": "2024-06-11T22:37:09.263514Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_dystrophy_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_dystrophy_8_patient_1.json new file mode 100644 index 000000000..981046664 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_dystrophy_8_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "cone-rod_dystrophy_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + }, + { + "type": { + "id": "HP:0007994", + "label": "Peripheral visual field loss" + } + }, + { + "type": { + "id": "HP:0000587", + "label": "Abnormal optic nerve morphology" + } + }, + { + "type": { + "id": "HP:0007703", + "label": "Abnormality of retinal pigmentation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605549", + "label": "Cone-Rod dystrophy 8" + } + } + ], + "metaData": { + "created": "2024-06-11T23:10:07.221853Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_dystrophy_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_dystrophy_9_patient_1.json new file mode 100644 index 000000000..1d81782a8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_dystrophy_9_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "cone-rod_dystrophy_9", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612775", + "label": "Cone-Rod dystrophy 9" + } + } + ], + "metaData": { + "created": "2024-06-11T19:18:27.317791Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_dystrophy_X_linked_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_dystrophy_X_linked_2_patient_1.json new file mode 100644 index 000000000..c3cbbe39f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_dystrophy_X_linked_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cone-rod_dystrophy,_x-linked,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000548", + "label": "Cone/cone-rod dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300085", + "label": "Cone-Rod dystrophy, X-linked, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:55:53.059888Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_dystrophy_X_linked_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_dystrophy_X_linked_3_patient_1.json new file mode 100644 index 000000000..a774cf4b2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_dystrophy_X_linked_3_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "cone-rod_dystrophy,_x-linked,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000551", + "label": "Color vision defect" + } + }, + { + "type": { + "id": "HP:0000603", + "label": "Central scotoma" + } + }, + { + "type": { + "id": "HP:0008323", + "label": "Abnormal light- and dark-adapted electroretinogram" + } + }, + { + "type": { + "id": "HP:0000541", + "label": "Retinal detachment" + } + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0008002", + "label": "Abnormality of macular pigmentation" + } + }, + { + "type": { + "id": "HP:0000556", + "label": "Retinal dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300476", + "label": "Cone-Rod dystrophy, X-linked, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T22:18:35.962732Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_synaptic_disorder_congenital_nonprogressive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_synaptic_disorder_congenital_nonprogressive_patient_1.json new file mode 100644 index 000000000..ef8476daf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_Rod_synaptic_disorder_congenital_nonprogressive_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cone-rod_synaptic_disorder,_congenital_nonprogressive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + }, + { + "type": { + "id": "HP:0001361", + "label": "Nystagmus-induced head nodding" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610427", + "label": "Cone-Rod synaptic disorder, congenital nonprogressive" + } + } + ], + "metaData": { + "created": "2024-06-12T02:24:21.923344Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_dystrophy_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_dystrophy_3_patient_1.json new file mode 100644 index 000000000..40b1ab48c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_dystrophy_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cone_dystrophy_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007924", + "label": "Slow decrease in visual acuity" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602093", + "label": "Cone dystrophy 3" + } + } + ], + "metaData": { + "created": "2024-06-11T21:04:06.663916Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_dystrophy_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_dystrophy_4_patient_1.json new file mode 100644 index 000000000..7eae9c9ee --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_dystrophy_4_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cone_dystrophy_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007641", + "label": "Dyschromatopsia" + } + }, + { + "type": { + "id": "HP:0030465", + "label": "Undetectable light-adapted electroretinogram" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613093", + "label": "Cone dystrophy 4" + } + } + ], + "metaData": { + "created": "2024-06-11T18:45:43.554653Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_12_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_12_patient_1.json new file mode 100644 index 000000000..51b930d02 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_12_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "cone-rod_dystrophy_12", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011504", + "label": "Bull's eye maculopathy" + } + }, + { + "type": { + "id": "HP:0000603", + "label": "Central scotoma" + } + }, + { + "type": { + "id": "HP:0007803", + "label": "Monochromacy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612657", + "label": "Cone-rod dystrophy 12" + } + } + ], + "metaData": { + "created": "2024-06-11T22:33:16.464395Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_13_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_13_patient_1.json new file mode 100644 index 000000000..9ef79cf25 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_13_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "cone-rod_dystrophy_13", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P7Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608194", + "label": "Cone-rod dystrophy 13" + } + } + ], + "metaData": { + "created": "2024-06-11T21:59:01.184489Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_15_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_15_patient_1.json new file mode 100644 index 000000000..b439d6777 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_15_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cone-rod_dystrophy_15", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0007830", + "label": "Adult-onset night blindness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613660", + "label": "Cone-rod dystrophy 15" + } + } + ], + "metaData": { + "created": "2024-06-12T02:25:04.461261Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_21_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_21_patient_1.json new file mode 100644 index 000000000..c75d8bbe2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_21_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cone-rod_dystrophy_21", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000556", + "label": "Retinal dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616502", + "label": "Cone-rod dystrophy 21" + } + } + ], + "metaData": { + "created": "2024-06-11T18:05:32.516914Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_22_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_22_patient_1.json new file mode 100644 index 000000000..f5e85e092 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_22_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "cone-rod_dystrophy_22", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + }, + { + "type": { + "id": "HP:0032122", + "label": "Very low visual acuity" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619531", + "label": "Cone-rod dystrophy 22" + } + } + ], + "metaData": { + "created": "2024-06-11T19:32:03.224702Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_24_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_24_patient_1.json new file mode 100644 index 000000000..1ec91b8dc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_24_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "cone-rod_dystrophy_24", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000608", + "label": "Macular degeneration" + } + }, + { + "type": { + "id": "HP:0007737", + "label": "Bone spicule pigmentation of the retina" + } + }, + { + "type": { + "id": "HP:0030506", + "label": "Yellow/white lesions of the retina" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620342", + "label": "Cone-rod dystrophy 24" + } + } + ], + "metaData": { + "created": "2024-06-11T22:28:44.033233Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_3_patient_1.json new file mode 100644 index 000000000..401475eea --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_3_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "cone-rod_dystrophy_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000551", + "label": "Color vision defect" + } + }, + { + "type": { + "id": "HP:0000572", + "label": "Visual loss" + } + }, + { + "type": { + "id": "HP:0011504", + "label": "Bull's eye maculopathy" + } + }, + { + "type": { + "id": "HP:0007994", + "label": "Peripheral visual field loss" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604116", + "label": "Cone-rod dystrophy 3" + } + } + ], + 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@@ +{ + "id": "cone-rod_dystrophy_7", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P62Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007401", + "label": "Macular atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603649", + "label": "Cone-rod dystrophy 7" + } + } + ], + "metaData": { + "created": "2024-06-11T22:44:44.623491Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_X_linked_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_X_linked_1_patient_1.json new file mode 100644 index 000000000..1f3fd4aa3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_X_linked_1_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "cone-rod_dystrophy,_x-linked,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0001105", + "label": "Retinal atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:304020", + "label": "Cone-rod dystrophy, X-linked, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:27:27.420937Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_and_hearing_loss_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_and_hearing_loss_2_patient_1.json new file mode 100644 index 000000000..9e4c63ea3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_and_hearing_loss_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cone-rod_dystrophy_and_hearing_loss_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618358", + "label": "Cone-rod dystrophy and hearing loss 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:33:36.694233Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_and_hearing_loss_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_and_hearing_loss_patient_1.json new file mode 100644 index 000000000..182d43456 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_dystrophy_and_hearing_loss_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "cone-rod_dystrophy_and_hearing_loss", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P49Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001757", + "label": "High-frequency sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0012047", + "label": "Hemeralopia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011462", + "label": "Young adult onset" + } + } + }, + { + "type": { + "id": "HP:0025146", + "label": "Foveal degeneration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617236", + "label": "Cone-rod dystrophy and hearing loss" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cone_rod_synaptic_disorder_syndrome_congenital_nonprogressive_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "cone-rod_synaptic_disorder_syndrome,_congenital_nonprogressive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030329", + "label": "Retinal thinning" + } + }, + { + "type": { + "id": "HP:0003074", + "label": "Hyperglycemia" + } + }, + { + "type": { + "id": "HP:0000739", + "label": "Anxiety" + } + }, + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0012512", + "label": "Diffuse optic disc pallor" + } + }, + { + "type": { + "id": "HP:0034434", + "label": "Abnormal communication" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618970", + "label": "Cone-rod synaptic disorder syndrome, congenital nonprogressive" + } + } + ], + "metaData": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Congenital_anomalies_of_kidney_and_urinary_tract_2_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "congenital_anomalies_of_kidney_and_urinary_tract_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000074", + "label": "Ureteropelvic junction obstruction" + } + }, + { + "type": { + "id": "HP:0000083", + "label": "Renal insufficiency" + } + }, + { + "type": { + "id": "HP:0025633", + "label": "Abnormal ureter morphology" + } + }, + { + "type": { + "id": "HP:0033130", + "label": "Abnormal renal echogenicity" + } + }, + { + "type": { + "id": "HP:0000126", + "label": "Hydronephrosis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + }, + { + "type": { + "id": "HP:0030157", + "label": "Flank pain" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:143400", + "label": "Congenital anomalies of kidney and urinary tract 2" + } + } + ], + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Congenital_anomalies_of_kidney_and_urinary_tract_3_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "congenital_anomalies_of_kidney_and_urinary_tract_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033736", + "label": "Grade II vesicoureteral reflux" + } + }, + { + "type": { + "id": "HP:0034234", + "label": "L-shaped kidney" + } + }, + { + "type": { + "id": "HP:0012583", + "label": "Unilateral renal hypoplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618270", + "label": "Congenital anomalies of kidney and urinary tract 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:19:14.439097Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Congenital_anomalies_of_kidney_and_urinary_tract_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Congenital_anomalies_of_kidney_and_urinary_tract_susceptibility_to_patient_1.json new file mode 100644 index 000000000..2ddcb58df --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Congenital_anomalies_of_kidney_and_urinary_tract_susceptibility_to_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "congenital_anomalies_of_kidney_and_urinary_tract,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012622", + "label": 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--git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Congenital_anomalies_of_kidney_and_urinary_tract_syndrome_with_or_without_hearing_loss_abnormal_ears_or_developmental_delay_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Congenital_anomalies_of_kidney_and_urinary_tract_syndrome_with_or_without_hearing_loss_abnormal_ears_or_developmental_delay_patient_1.json new file mode 100644 index 000000000..a3232690d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Congenital_anomalies_of_kidney_and_urinary_tract_syndrome_with_or_without_hearing_loss_abnormal_ears_or_developmental_delay_patient_1.json @@ -0,0 +1,165 @@ +{ + "id": "congenital_anomalies_of_kidney_and_urinary_tract_syndrome_with_or_without_hearing_loss,_abnormal_ears,_or_developmental_delay", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Congenital_heart_defects_multiple_types_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "congenital_heart_defects,_multiple_types,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005301", + "label": "Persistent left superior vena cava" + } + }, + { + "type": { + "id": "HP:0011567", + "label": "Sinus venosus atrial septal defect" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614954", + "label": "Congenital heart defects, multiple types, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:34:13.055247Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Congenital_heart_defects_multiple_types_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Congenital_heart_defects_multiple_types_5_patient_1.json new file mode 100644 index 000000000..c7932182f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Congenital_heart_defects_multiple_types_5_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "congenital_heart_defects,_multiple_types,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005110", + "label": "Atrial fibrillation" + } + }, + { + "type": { + "id": "HP:0001644", + "label": "Dilated cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0001647", + "label": "Bicuspid aortic valve" + } + }, + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal defect" + } + }, + { + "type": { + "id": "HP:0011682", + "label": "Perimembranous ventricular septal defect" + } + } + ], + "diseases": [ + { + 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+++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Contractural_arachnodactyly_congenital_patient_1.json @@ -0,0 +1,231 @@ +{ + "id": "contractural_arachnodactyly,_congenital", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001377", + "label": "Limited elbow extension" + } + }, + { + "type": { + "id": "HP:0002987", + "label": "Elbow flexion contracture" + } + }, + { + "type": { + "id": "HP:0012774", + "label": "Increased upper to lower segment ratio" + } + }, + { + "type": { + "id": "HP:0001166", + "label": "Arachnodactyly" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0006380", + "label": "Knee flexion contracture" + } + }, + { + "type": { + "id": "HP:0005879", + "label": "Congenital finger flexion contractures" + } + }, + { + "type": { + "id": "HP:0000768", + "label": "Pectus carinatum" + } + }, + { + "type": { + "id": "HP:0001083", + "label": "Ectopia lentis" + } + }, 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000000000..01e009d2a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Contractures_congenital_torticollis_and_malignant_hyperthermia_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "contractures,_congenital,_torticollis,_and_malignant_hyperthermia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0006288", + "label": "Advanced eruption of teeth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:217150", + "label": "Contractures, congenital, torticollis, and malignant hyperthermia" + } + } + ], + "metaData": { + "created": "2024-06-11T22:43:55.224635Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Convulsive_disorder_familial_with_prenatal_or_early_onset_patient_1.json new file mode 100644 index 000000000..35156ce36 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Convulsive_disorder_familial_with_prenatal_or_early_onset_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "convulsive_disorder,_familial,_with_prenatal_or_early_onset", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:217200", + "label": "Convulsive disorder, familial, with prenatal or early onset" + } + } + ], + "metaData": { + "created": "2024-06-11T18:48:10.181458Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cornea_guttata_with_anterior_polar_cataracts_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cornea_guttata_with_anterior_polar_cataracts", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001134", + "label": "Anterior polar cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:121390", + "label": "Cornea guttata with anterior polar cataracts" + } + } + ], + "metaData": { + "created": "2024-06-11T20:40:47.360637Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cornea_plana_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cornea_plana_1_patient_1.json new file mode 100644 index 000000000..670caee92 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cornea_plana_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cornea_plana_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007720", + "label": "Flat cornea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:121400", + "label": "Cornea plana 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:19:02.862932Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cornea_plana_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cornea_plana_2_patient_1.json new file mode 100644 index 000000000..dc422601a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cornea_plana_2_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "cornea_plana_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0007720", + "label": "Flat cornea" + } + }, + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + } + }, + { + "type": { + "id": "HP:0000647", + "label": "Sclerocornea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:217300", + "label": "Cornea plana 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:58:24.125617Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_Avellino_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_Avellino_type_patient_1.json new file mode 100644 index 000000000..eb92ba77c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_Avellino_type_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "corneal_dystrophy,_avellino_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001149", + "label": "Lattice corneal dystrophy" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607541", + "label": "Corneal dystrophy, Avellino type" + } + } + ], + "metaData": { + "created": "2024-06-11T18:50:35.046040Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_Central_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_Central_type_patient_1.json new file mode 100644 index 000000000..ee6f7d24b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_Central_type_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "corneal_dystrophy,_central_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007881", + "label": "Central corneal dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:217600", + "label": "Corneal dystrophy, Central type" + } + } + ], + "metaData": { + "created": "2024-06-11T18:11:00.197497Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_Fuchs_endothelial_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_Fuchs_endothelial_4_patient_1.json new file mode 100644 index 000000000..ea9bc25b6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_Fuchs_endothelial_4_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "corneal_dystrophy,_fuchs_endothelial,_4", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P87Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012038", + "label": "Corneal guttata" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613268", + "label": "Corneal dystrophy, Fuchs endothelial, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T18:00:58.812121Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_Reis_Bucklers_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_Reis_Bucklers_type_patient_1.json new file mode 100644 index 000000000..607f307bc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_Reis_Bucklers_type_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "corneal_dystrophy,_reis-bucklers_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0004328", + "label": "Abnormal anterior eye segment morphology" + } + }, + { + "type": { + "id": "HP:0007962", + "label": "Speckled corneal dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608470", + "label": "Corneal dystrophy, Reis-Bucklers type" + } + } + ], + "metaData": { + "created": "2024-06-11T18:46:44.784464Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_band_shaped_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_band_shaped_patient_1.json new file mode 100644 index 000000000..dd4bc4c03 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_band_shaped_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "corneal_dystrophy,_band-shaped", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007709", + "label": "Band-shaped corneal dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:217500", + "label": "Corneal dystrophy, band-shaped" + } + } + ], + "metaData": { + "created": "2024-06-11T20:03:47.445866Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_congenital_stromal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_congenital_stromal_patient_1.json new file mode 100644 index 000000000..349572cbf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_congenital_stromal_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "corneal_dystrophy,_congenital_stromal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001131", + "label": "Corneal dystrophy" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0011487", + "label": "Increased corneal thickness" + } + }, + { + "type": { + "id": "HP:0008041", + "label": "Late onset congenital glaucoma" + } + }, + { + "type": { + "id": "HP:0007924", + "label": "Slow decrease in visual acuity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610048", + "label": "Corneal dystrophy, congenital stromal" + } + } + ], + "metaData": { + "created": "2024-06-11T20:45:43.072938Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_crystalline_of_schnyder_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_crystalline_of_schnyder_patient_1.json new file mode 100644 index 000000000..dce26687c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_crystalline_of_schnyder_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "corneal_dystrophy,_crystalline,_of_schnyder", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001131", + "label": "Corneal dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:121800", + "label": "Corneal dystrophy, crystalline, of schnyder" + } + } + ], + "metaData": { + "created": "2024-06-11T19:41:20.147752Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_endothelial_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_endothelial_X_linked_patient_1.json new file mode 100644 index 000000000..79bdf1057 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_endothelial_X_linked_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "corneal_dystrophy,_endothelial,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001131", + "label": "Corneal dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300779", + "label": "Corneal dystrophy, endothelial, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T18:23:01.488474Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_epithelial_basement_membrane_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_epithelial_basement_membrane_patient_1.json new file mode 100644 index 000000000..b7c91ffa2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_epithelial_basement_membrane_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "corneal_dystrophy,_epithelial_basement_membrane", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000495", + "label": "Recurrent corneal erosions" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:121820", + "label": "Corneal dystrophy, epithelial basement membrane" + } + } + ], + "metaData": { + "created": "2024-06-11T21:05:39.645872Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_fuchs_endothelial_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_fuchs_endothelial_1_patient_1.json new file mode 100644 index 000000000..92ec470b5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_fuchs_endothelial_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "corneal_dystrophy,_fuchs_endothelial,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012038", + "label": "Corneal guttata" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:136800", + "label": "Corneal dystrophy, fuchs endothelial, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:38:53.466096Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_fuchs_endothelial_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_fuchs_endothelial_2_patient_1.json new file mode 100644 index 000000000..2192bf97a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_fuchs_endothelial_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "corneal_dystrophy,_fuchs_endothelial,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007430", + "label": "Generalized edema" + } + }, + { + "type": { + "id": "HP:0012038", + "label": "Corneal guttata" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610158", + "label": "Corneal dystrophy, fuchs endothelial, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:27:06.445816Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_fuchs_endothelial_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_fuchs_endothelial_3_patient_1.json new file mode 100644 index 000000000..8ca71641e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_fuchs_endothelial_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "corneal_dystrophy,_fuchs_endothelial,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007957", + "label": "Corneal opacity" + }, + "modifiers": [ + { + "id": "HP:0003676", + "label": "Progressive" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613267", + "label": "Corneal dystrophy, fuchs endothelial, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T23:48:11.379246Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_fuchs_endothelial_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_fuchs_endothelial_6_patient_1.json new file mode 100644 index 000000000..1b2214a7b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_fuchs_endothelial_6_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "corneal_dystrophy,_fuchs_endothelial,_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000491", + "label": "Keratitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613270", + "label": "Corneal dystrophy, fuchs endothelial, 6" + } + } + ], + "metaData": { + "created": "2024-06-12T02:17:15.791064Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_fuchs_endothelial_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_fuchs_endothelial_8_patient_1.json new file mode 100644 index 000000000..048e7ad14 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_fuchs_endothelial_8_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "corneal_dystrophy,_fuchs_endothelial,_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001131", + "label": "Corneal dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615523", + "label": "Corneal dystrophy, fuchs endothelial, 8" + } + } + ], + "metaData": { + "created": "2024-06-11T20:13:53.199519Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_gelatinous_drop_like_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_gelatinous_drop_like_patient_1.json new file mode 100644 index 000000000..117bf52ef --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_gelatinous_drop_like_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "corneal_dystrophy,_gelatinous_drop-like", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P40Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:204870", + "label": "Corneal dystrophy, gelatinous drop-like" + } + } + ], + "metaData": { + "created": "2024-06-11T17:43:17.453982Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_lattice_type_IIIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_lattice_type_IIIA_patient_1.json new file mode 100644 index 000000000..2e98d8e74 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_lattice_type_IIIA_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "corneal_dystrophy,_lattice_type_iiia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608471", + "label": "Corneal dystrophy, lattice type IIIA" + } + } + ], + "metaData": { + "created": "2024-06-11T18:40:55.789936Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_lattice_type_I_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_lattice_type_I_patient_1.json new file mode 100644 index 000000000..f62687d4f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_lattice_type_I_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "corneal_dystrophy,_lattice_type_i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000495", + "label": "Recurrent corneal erosions" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:122200", + "label": "Corneal dystrophy, lattice type I" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:01.968283Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_lisch_epithelial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_lisch_epithelial_patient_1.json new file mode 100644 index 000000000..1969e6bcb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_lisch_epithelial_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "corneal_dystrophy,_lisch_epithelial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001131", + "label": "Corneal dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300778", + "label": "Corneal dystrophy, lisch epithelial" + } + } + ], + "metaData": { + "created": "2024-06-11T18:15:57.659832Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_of_bowman_layer_type_II_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_of_bowman_layer_type_II_patient_1.json new file mode 100644 index 000000000..84c7f90d3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_of_bowman_layer_type_II_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "corneal_dystrophy_of_bowman_layer,_type_ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000559", + "label": "Corneal scarring" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602082", + "label": "Corneal dystrophy of bowman layer, type II" + } + } + ], + "metaData": { + "created": "2024-06-11T22:18:19.519902Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_posterior_amorphous_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_posterior_amorphous_patient_1.json new file mode 100644 index 000000000..86d67b83a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_posterior_amorphous_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "corneal_dystrophy,_posterior_amorphous", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001131", + "label": "Corneal dystrophy" + } + }, + { + "type": { + "id": "HP:0031728", + "label": "Mild hypermetropia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612868", + "label": "Corneal dystrophy, posterior amorphous" + } + } + ], + "metaData": { + "created": "2024-06-11T19:38:06.002486Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_posterior_polymorphous_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_posterior_polymorphous_1_patient_1.json new file mode 100644 index 000000000..2cca19234 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_posterior_polymorphous_1_patient_1.json @@ -0,0 +1,98 @@ +{ + "id": "corneal_dystrophy,_posterior_polymorphous,_1", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011490", + "label": "Abnormal Descemet membrane morphology" + } + }, + { + "type": { + "id": "HP:0000585", + "label": "Band keratopathy" + } + }, + { + "type": { + "id": "HP:0025358", + "label": "Uveal ectropion" + } + }, + { + "type": { + "id": "HP:0007957", + "label": "Corneal opacity" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0011488", + "label": "Abnormal corneal endothelium morphology" + } + }, + { + "type": { + "id": "HP:0012373", + "label": "Abnormal eye physiology" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0004328", + "label": "Abnormal anterior eye segment morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:122000", + "label": "Corneal dystrophy, posterior polymorphous, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:42:55.718910Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_posterior_polymorphous_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_posterior_polymorphous_2_patient_1.json new file mode 100644 index 000000000..65b2880bf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_posterior_polymorphous_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "corneal_dystrophy,_posterior_polymorphous,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001131", + "label": "Corneal dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609140", + "label": "Corneal dystrophy, posterior polymorphous, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:55:44.834773Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_posterior_polymorphous_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_posterior_polymorphous_3_patient_1.json new file mode 100644 index 000000000..a7972e11b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_posterior_polymorphous_3_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "corneal_dystrophy,_posterior_polymorphous,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000023", + "label": "Inguinal hernia" + } + }, + { + "type": { + "id": "HP:0000563", + "label": "Keratoconus" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0009918", + "label": "Ectopia pupillae" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609141", + "label": "Corneal dystrophy, posterior polymorphous, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T18:33:17.117549Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_posterior_polymorphous_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_posterior_polymorphous_4_patient_1.json new file mode 100644 index 000000000..a598f275c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_posterior_polymorphous_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "corneal_dystrophy,_posterior_polymorphous,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009918", + "label": "Ectopia pupillae" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618031", + "label": "Corneal dystrophy, posterior polymorphous, 4" + } + } + ], + "metaData": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_dystrophy_punctiform_and_polychromatic_pre_Descemet_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "corneal_dystrophy,_punctiform_and_polychromatic_pre-descemet", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034327", + "label": "Posterior corneal stroma punctiform multicolored opacities" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619871", + "label": "Corneal dystrophy, punctiform and polychromatic pre-Descemet" + } + } + ], + "metaData": { + "created": "2024-06-11T20:44:56.598428Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_endothelial_dystrophy_autosomal_recessive_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "corneal_endothelial_dystrophy,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007759", + "label": "Opacification of the corneal stroma" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:217700", + "label": "Corneal endothelial dystrophy, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T19:34:33.250196Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance 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000000000..66eaa7087 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_hypesthesia_with_retinal_abnormalities_sensorineural_deafness_unusual_facies_persistent_ductus_arteriosus_and_mental_retardation_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "corneal_hypesthesia_with_retinal_abnormalities,_sensorineural_deafness,unusual_facies,_persistent_ductus_arteriosus,_and_mental_retardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0000407", + "label": 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], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_opacification_with_other_ocular_anomalies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_opacification_with_other_ocular_anomalies_patient_1.json new file mode 100644 index 000000000..35228bb1d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Corneal_opacification_with_other_ocular_anomalies_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "corneal_opacification_with_other_ocular_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0007957", + "label": "Corneal opacity" + } + }, + { + "type": { + "id": "HP:0000482", + "label": "Microcornea" + } + } + ], + "diseases": [ + { + "term": { + "id": 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+++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cornelia_de_Lange_syndrome_1_patient_1.json @@ -0,0 +1,309 @@ +{ + "id": "cornelia_de_lange_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0000248", + "label": "Brachycephaly" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0003083", + "label": "Dislocated radial head" + } + }, + { + "type": { + "id": "HP:0000050", + "label": "Hypoplastic male external genitalia" + } + }, + { + "type": { + "id": "HP:0000776", + "label": "Congenital diaphragmatic hernia" + } + }, + { + "type": { + "id": "HP:0000965", + "label": "Cutis marmorata" + } + }, + { + "type": { + "id": "HP:0004785", + "label": "Malrotation of colon" + } + }, + { + "type": { + "id": "HP:0004209", + "label": "Clinodactyly of the 5th finger" + } + }, + { + "type": { + "id": 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cornelia_de_Lange_syndrome_2_patient_1.json @@ -0,0 +1,159 @@ +{ + "id": "cornelia_de_lange_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + }, + { + "type": { + "id": "HP:0001637", + "label": "Abnormal myocardium morphology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0011821", + "label": "Abnormal facial skeleton morphology" + } + }, + { + "type": { + "id": "HP:0000294", + "label": "Low anterior hairline" + } + }, + { + "type": { + "id": "HP:0032807", + "label": "Neonatal seizure" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0200006", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cornelia_de_Lange_syndrome_3_patient_1.json @@ -0,0 +1,333 @@ +{ + "id": "cornelia_de_lange_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000691", + "label": "Microdontia" + } + }, + { + "type": { + "id": "HP:0200055", + "label": "Small hand" + } + }, + { + "type": { + "id": "HP:0002465", + "label": "Poor speech" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0002553", + "label": "Highly arched eyebrow" + } + }, + { + "type": { + "id": "HP:0008872", + "label": "Feeding difficulties in infancy" + } + }, + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cortical_dysplasia_complex_with_other_brain_malformations_7_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "cortical_dysplasia,_complex,_with_other_brain_malformations_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001491", + "label": "Congenital fibrosis of extraocular muscles" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0003781", + "label": "Excessive salivation" + } + }, + { + "type": { + "id": "HP:0010794", + "label": "Impaired visuospatial constructive cognition" + } + }, + { + "type": { + "id": "HP:0000478", + "label": "Abnormality of the eye" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610031", + "label": "Cortical dysplasia, complex, with other brain malformations 7" + } + } + ], + "metaData": { + "created": "2024-06-11T23:23:33.636609Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cortisone_reductase_deficiency_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cortisone_reductase_deficiency_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000789", + "label": "Infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604931", + "label": "Cortisone reductase deficiency 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:15:53.990261Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cowden_Like_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cowden-like_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000131", + "label": "Uterine leiomyoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612359", + "label": "Cowden-Like syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:15:06.156524Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cowden_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cowden_syndrome_1_patient_1.json new file mode 100644 index 000000000..5f019a273 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cowden_syndrome_1_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "cowden_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004390", + "label": "Hamartomatous polyposis" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000034", + "label": "Hydrocele testis" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0004481", + "label": "Progressive macrocephaly" + } + }, + { + "type": { + "id": "HP:0032101", + "label": "Unusual infection" + } + }, + { + "type": { + "id": "HP:0008245", + "label": "Pituitary hypothyroidism" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0002345", + "label": "Action tremor" + } + }, + { + "type": { + "id": "HP:0010701", + "label": "Abnormal immunoglobulin level" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0000866", + "label": "Euthyroid multinodular goiter" + } + }, + { + "type": { + "id": "HP:0007206", + "label": "Hemimegalencephaly" + } + }, + { + "type": { + "id": "HP:0004332", + "label": "Abnormal lymphocyte morphology" + } + }, + { + "type": { + "id": "HP:0002947", + "label": "Cervical kyphosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:158350", + "label": "Cowden syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:05:55.239441Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cowden_syndrome_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cowden_syndrome_4_patient_1.json new file mode 100644 index 000000000..aca1df5bd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cowden_syndrome_4_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cowden_syndrome_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006625", + "label": "Multifocal breast carcinoma" + } + }, + { + "type": { + "id": "HP:0012845", + "label": "Single trichilemmoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615107", + "label": "Cowden syndrome 4" + } + } + ], + "metaData": { + "created": "2024-06-11T22:08:30.502609Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cowden_syndrome_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cowden_syndrome_5_patient_1.json new file mode 100644 index 000000000..646556ecf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cowden_syndrome_5_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "cowden_syndrome_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002253", + "label": "Colonic diverticula" + } + }, + { + "type": { + "id": "HP:0004481", + "label": "Progressive macrocephaly" + } + }, + { + "type": { + "id": "HP:0000771", + "label": "Gynecomastia" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0000851", + "label": "Congenital hypothyroidism" + } + }, + { + "type": { + "id": "HP:0000160", + "label": "Narrow mouth" + } + }, + { + "type": { + "id": "HP:0011975", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cowden_syndrome_6_patient_1.json new file mode 100644 index 000000000..81bde21aa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cowden_syndrome_6_patient_1.json @@ -0,0 +1,153 @@ +{ + "id": "cowden_syndrome_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000138", + "label": "Ovarian cyst" + } + }, + { + "type": { + "id": "HP:0001626", + "label": "Abnormality of the cardiovascular system" + } + }, + { + "type": { + "id": "HP:0100646", + "label": "Thyroiditis" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0000160", + "label": "Narrow mouth" + } + }, + { + "type": { + "id": "HP:0002808", + "label": "Kyphosis" + } + }, + { + "type": { + "id": "HP:0010609", + "label": "Skin tags" + } + }, + { + "type": { + "id": "HP:0003002", + "label": "Breast carcinoma" + } + }, + { + "type": { + "id": "HP:0000771", 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"label": "Cowden syndrome 6" + } + } + ], + "metaData": { + "created": "2024-06-11T19:29:12.836338Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cowden_syndrome_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cowden_syndrome_7_patient_1.json new file mode 100644 index 000000000..1f86cf7d7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cowden_syndrome_7_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "cowden_syndrome_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000872", + "label": "Hashimoto thyroiditis" + } + }, + { + "type": { + "id": "HP:0002895", + "label": "Papillary thyroid carcinoma" + } + }, + { + "type": { + "id": "HP:0001028", + "label": "Hemangioma" + } + }, + { + "type": { + "id": "HP:0003002", + "label": "Breast carcinoma" + } + }, + { + "type": { + "id": "HP:0000256", + "label": "Macrocephaly" + } + }, + { + "type": { + "id": "HP:0030075", + "label": "Ductal carcinoma in situ" + } + }, + { + "type": { + "id": "HP:0005994", + "label": "Nodular goiter" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616858", + "label": "Cowden syndrome 7" + } + } + ], + "metaData": { + "created": "2024-06-11T23:17:11.096241Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": 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"diseases": [ + { + "term": { + "id": "OMIM:122750", + "label": "Coxa vara" + } + } + ], + "metaData": { + "created": "2024-06-12T01:24:20.188947Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Coxoauricular_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Coxoauricular_syndrome_patient_1.json new file mode 100644 index 000000000..41a0e436f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Coxoauricular_syndrome_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "coxoauricular_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:122780", + "label": "Coxoauricular syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:20:29.466323Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Coxsackievirus_B3_susceptibility_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Coxsackievirus_B3_susceptibility_patient_1.json new file mode 100644 index 000000000..1988a9b58 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Coxsackievirus_B3_susceptibility_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "coxsackievirus_b3_susceptibility", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004429", + "label": "Recurrent viral infections" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:120050", + "label": "Coxsackievirus B3 susceptibility" + } + } + ], + "metaData": { + "created": "2024-06-11T22:17:49.320843Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"HP:0003011", + "label": "Abnormality of the musculature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:218050", + "label": "Cramps, familial adolescent" + } + } + ], + "metaData": { + "created": "2024-06-11T19:17:41.899201Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cranial_dysinnervation_disorder_congenital_with_absent_corneal_reflex_and_developmental_delay_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cranial_dysinnervation_disorder_congenital_with_absent_corneal_reflex_and_developmental_delay_patient_1.json new file mode 100644 index 000000000..9d6cff5d2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cranial_dysinnervation_disorder_congenital_with_absent_corneal_reflex_and_developmental_delay_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "cranial_dysinnervation_disorder,_congenital,_with_absent_corneal_reflex_and_developmental_delay", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002487", + "label": "Hyperkinetic movements" + } + }, + { + "type": { + "id": "HP:0011476", + "label": "Profound sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0030890", + "label": "Hyperintensity of cerebral white matter on MRI" + } + }, + { + "type": { + "id": "HP:0003390", + "label": "Sensory axonal neuropathy" + } + }, + { + "type": { + "id": 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@@ +{ + "id": "cranioacrofacial_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005922", + "label": "Abnormal hand morphology" + } + }, + { + "type": { + "id": "HP:0031653", + "label": "Abnormal heart valve physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:122850", + "label": "Cranioacrofacial syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:23:03.147784Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniodiaphyseal_dysplasia_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniodiaphyseal_dysplasia_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..661ef7a8f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniodiaphyseal_dysplasia_autosomal_dominant_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "craniodiaphyseal_dysplasia,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003155", + "label": "Elevated circulating alkaline phosphatase concentration" + } + }, + { + "type": { + "id": "HP:0000452", + "label": "Choanal stenosis" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0001349", + "label": "Facial 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} +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cranioectodermal_dysplasia_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cranioectodermal_dysplasia_2_patient_1.json new file mode 100644 index 000000000..54b75af38 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cranioectodermal_dysplasia_2_patient_1.json @@ -0,0 +1,213 @@ +{ + "id": "cranioectodermal_dysplasia_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000319", + "label": "Smooth philtrum" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0030151", + "label": "Cholangitis" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0001159", + "label": "Syndactyly" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cranioectodermal_dysplasia_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cranioectodermal_dysplasia_4_patient_1.json new file mode 100644 index 000000000..ceea123e6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cranioectodermal_dysplasia_4_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "cranioectodermal_dysplasia_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000286", + "label": "Epicanthus" + } + }, + { + "type": { + "id": "HP:0000774", + "label": "Narrow chest" + } + }, + { + "type": { + "id": "HP:0000411", + "label": "Protruding ear" + } + }, + { + "type": { + "id": "HP:0030641", + "label": "Incomplete congenital stationary night blindness" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + }, + { + "type": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_2_patient_1.json new file mode 100644 index 000000000..1369d4d9d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_2_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "craniosynostosis_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002315", + "label": "Headache" + } + }, + { + "type": { + "id": "HP:0011315", + "label": "Unicoronal synostosis" + } + }, + { + "type": { + "id": "HP:0009121", + "label": "Abnormal axial skeleton morphology" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0001363", + "label": "Craniosynostosis" + } + }, + { + "type": { + "id": "HP:0001199", + "label": "Triphalangeal thumb" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604757", + "label": "Craniosynostosis 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:08:42.947240Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_3_patient_1.json new file mode 100644 index 000000000..f63e820af --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_3_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "craniosynostosis_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011318", + "label": "Bicoronal synostosis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0011315", + "label": "Unicoronal synostosis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000954", + "label": "Single transverse palmar crease" + } + }, + { + "type": { + "id": "HP:0000294", + "label": "Low anterior hairline" + } + }, + { + "type": { + "id": "HP:0000729", + "label": "Autistic behavior" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615314", + "label": "Craniosynostosis 3" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:52.600802Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_4_patient_1.json new file mode 100644 index 000000000..91a0ef650 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_4_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "craniosynostosis_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0004443", + "label": "Lambdoidal craniosynostosis" + } + }, + { + "type": { + "id": "HP:0011325", + "label": "Pansynostosis" + } + }, + { + "type": { + "id": "HP:0004442", + "label": "Sagittal craniosynostosis" + } + }, + { + "type": { + "id": "HP:0011755", + "label": "Ectopic posterior pituitary" + } + }, + { + "type": { + "id": "HP:0004440", + "label": "Coronal craniosynostosis" + } + }, + { + "type": { + "id": "HP:0031987", + "label": "Diminished ability to concentrate" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0100842", + "label": "Septo-optic dysplasia" + } + }, + { + "type": { + "id": "HP:0000277", + "label": "Abnormal mandible morphology" + } + }, + { + "type": { + "id": "HP:0011330", + "label": "Metopic synostosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600775", + "label": "Craniosynostosis 4" + } + } + ], + "metaData": { + "created": "2024-06-11T19:13:06.153034Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_5_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_5_susceptibility_to_patient_1.json new file mode 100644 index 000000000..7870a1437 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_5_susceptibility_to_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "craniosynostosis_5,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001363", + "label": "Craniosynostosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615529", + "label": "Craniosynostosis 5, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T22:17:25.308503Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_6_patient_1.json new file mode 100644 index 000000000..43908e863 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_6_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "craniosynostosis_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011318", + "label": "Bicoronal synostosis" + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + }, + { + "type": { + "id": "HP:0020044", + "label": "Horizontal incomitant strabismus" + } + }, + { + "type": { + "id": "HP:0012736", + "label": "Profound global developmental delay" + } + }, + { + "type": { + "id": "HP:0002683", + "label": "Abnormal calvaria morphology" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616602", + "label": "Craniosynostosis 6" + } + } + ], + "metaData": { + "created": "2024-06-11T19:32:00.245231Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_7_patient_1.json new file mode 100644 index 000000000..618dea75a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_7_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "craniosynostosis_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001363", + "label": "Craniosynostosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617439", + "label": "Craniosynostosis 7" + } + } + ], + "metaData": { + "created": "2024-06-11T23:54:56.838058Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_Adelaide_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_Adelaide_type_patient_1.json new file mode 100644 index 000000000..bf9503387 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_Adelaide_type_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "craniosynostosis,_adelaide_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006110", + "label": "Shortening of all middle phalanges of the fingers" + } + }, + { + "type": { + "id": "HP:0010164", + "label": "Cone-shaped epiphyses of the toes" + } + }, + { + "type": { + "id": "HP:0006118", + "label": "Shortening of all distal phalanges of the fingers" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600593", + "label": "Craniosynostosis, Adelaide type" + } + } + ], + "metaData": { + "created": "2024-06-11T23:22:32.997235Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_Mental_retardation_clefting_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_Mental_retardation_clefting_syndrome_patient_1.json new file mode 100644 index 000000000..a30409c87 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_Mental_retardation_clefting_syndrome_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "craniosynostosis-mental_retardation-clefting_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000110", + "label": "Renal dysplasia" + } + }, + { + "type": { + "id": "HP:0000337", + "label": "Broad forehead" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0006434", + "label": "Hypoplasia of proximal radius" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0000444", + "label": "Convex nasal ridge" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:218650", + "label": "Craniosynostosis-Mental retardation-clefting syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:23:15.201593Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_and_dental_anomalies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_and_dental_anomalies_patient_1.json new file mode 100644 index 000000000..676185eaa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Craniosynostosis_and_dental_anomalies_patient_1.json @@ -0,0 +1,189 @@ +{ + "id": "craniosynostosis_and_dental_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004425", + "label": "Flat forehead" + } + }, + { + "type": { + "id": "HP:0011455", + "label": "Absent malleus" + } + }, + { + "type": { + "id": "HP:0011317", + "label": "Right unicoronal synostosis" + } + }, + { + "type": { + "id": "HP:0001098", + "label": "Abnormal fundus morphology" + } + }, + { + "type": { + "id": "HP:0000692", + "label": "Tooth malposition" + } + }, + { + "type": { + "id": "HP:0000326", + "label": "Abnormal maxilla morphology" + } + }, + { + "type": { + "id": "HP:0000444", + "label": "Convex nasal ridge" + } + }, + { + "type": { + "id": "HP:0000680", + "label": "Delayed eruption of primary teeth" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0002683", + "label": "Abnormal calvaria morphology" + } + }, + { + "type": { + "id": "HP:0000520", + "label": "Proptosis" + } + }, + { + "type": { + "id": "HP:0000381", + "label": "Stapes ankylosis" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0011283", + "label": "Abnormal metencephalon morphology" + } + }, + { + "type": { + "id": "HP:0000692", + "label": "Tooth malposition" + } + }, + { + "type": { + "id": "HP:0002705", + "label": "High, narrow palate" + } + }, + { + "type": { + "id": "HP:0011330", + "label": "Metopic synostosis" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + }, + { + "type": { + "id": "HP:0004442", + "label": "Sagittal craniosynostosis" + } + }, + { + "type": { + "id": "HP:0002683", + "label": "Abnormal calvaria morphology" + } + }, + { + "type": { + "id": "HP:0010051", + "label": "Deviation of the hallux" + } + }, + { + "type": { + "id": "HP:0004691", + "label": "2-3 toe syndactyly" + } + }, + { + "type": { + "id": "HP:0011821", + "label": "Abnormal facial skeleton morphology" + } + }, + { + "type": { + "id": "HP:0003396", + "label": "Syringomyelia" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614188", + "label": "Craniosynostosis and dental anomalies" + } + } + ], + "metaData": { + "created": "2024-06-11T20:10:21.964577Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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"craniosynostosis,_sagittal,_with_dandy-walker_malformation_and_hydrocephalus", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002343", + "label": "Normal pressure hydrocephalus" + } + }, + { + "type": { + "id": "HP:0000933", + "label": "Posterior fossa cyst at the fourth ventricle" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:123155", + "label": "Craniosynostosis, sagittal, with dandy-walker malformation and hydrocephalus" + } + } + ], + "metaData": { + "created": "2024-06-11T20:54:47.949045Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Creatine_phosphokinase_elevated_serum_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "creatine_phosphokinase,_elevated_serum", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003394", + "label": "Muscle spasm" + } + }, + { + "type": { + "id": "HP:0009069", + "label": "Lethal infantile mitochondrial myopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:123320", + "label": "Creatine phosphokinase, elevated serum" + } + } + ], + "metaData": { + "created": "2024-06-11T19:11:32.587380Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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index 000000000..0840c79fb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cri_Du_Chat_syndrome_patient_1.json @@ -0,0 +1,338 @@ +{ + "id": "cri-du-chat_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000384", + "label": "Preauricular skin tag" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0009102", + "label": "Anterior open-bite malocclusion" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0010865", + "label": "Oppositional defiant disorder" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0001159", + "label": "Syndactyly" + } + }, + { + "type": { + "id": "HP:0000322", + "label": "Short philtrum" + }, + "onset": { + 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"crigler-najjar_syndrome,_type_i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001343", + "label": "Kernicterus" + } + }, + { + "type": { + "id": "HP:0001046", + "label": "Intermittent jaundice" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:218800", + "label": "Crigler-Najjar syndrome, type I" + } + } + ], + "metaData": { + "created": "2024-06-11T20:06:30.541269Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Crisponi_cold_induced_sweating_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Crisponi_cold_induced_sweating_syndrome_1_patient_1.json new file mode 100644 index 000000000..a24ad29dc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Crisponi_cold_induced_sweating_syndrome_1_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "crisponi/cold-induced_sweating_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0001945", + "label": "Fever" + } + }, + { + "type": { + "id": "HP:0005922", + "label": "Abnormal hand morphology" + } + }, + { + "type": { + "id": "HP:0001069", + "label": "Episodic hyperhidrosis" + }, + "modifiers": [ + { + "id": "HP:0025206", + "label": "Triggered by cold" + } + ] + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0000670", + "label": "Carious teeth" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + }, + { + "type": { + "id": "HP:0001182", + "label": "Tapered finger" + } + }, + { + "type": { + "id": "HP:0005852", + "label": "Limited elbow extension and supination" + } + }, + { + "type": { + "id": "HP:0001096", + "label": "Keratoconjunctivitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:272430", + "label": "Crisponi/cold-induced sweating syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:58:15.967389Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Crouzon_syndrome_with_acanthosis_nigricans_patient_1.json new file mode 100644 index 000000000..229e4141b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Crouzon_syndrome_with_acanthosis_nigricans_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "crouzon_syndrome_with_acanthosis_nigricans", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000238", + "label": "Hydrocephalus" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0011820", + "label": "Membranous choanal atresia" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0000520", + "label": "Proptosis" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612247", + "label": "Crouzon syndrome with 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cryofibrinogenemia_familial_primary_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cryofibrinogenemia,_familial_primary", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000790", + "label": "Hematuria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:123540", + "label": "Cryofibrinogenemia, familial primary" + } + } + ], + "metaData": { + "created": "2024-06-11T19:44:01.632630Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cryoglobulinemia_familial_mixed_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cryoglobulinemia_familial_mixed_patient_1.json new file mode 100644 index 000000000..6c6ee450c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cryoglobulinemia_familial_mixed_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "cryoglobulinemia,_familial_mixed", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100778", + "label": "Cryoglobulinemia" + } + }, + { + "type": { + "id": "HP:0000822", + "label": "Hypertension" + } + }, + { + "type": { + "id": "HP:0000093", + "label": "Proteinuria" + } + }, + { + "type": { + "id": "HP:0000790", + "label": "Hematuria" + } + }, + { + "type": { + "id": "HP:0000083", + "label": "Renal insufficiency" + } + } + ], + "diseases": [ + { + "term": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cryohydrocytosis_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "cryohydrocytosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004446", + "label": "Stomatocytosis" + } + }, + { + "type": { + "id": "HP:0001923", + "label": "Reticulocytosis" + } + }, + { + "type": { + "id": "HP:0010930", + "label": "Abnormal blood monovalent inorganic cation concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:185020", + "label": "Cryohydrocytosis" + } + } + ], + "metaData": { + "created": "2024-06-11T20:33:37.870573Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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+ ], + "metaData": { + "created": "2024-06-11T22:37:43.164449Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cryptorchidism_unilateral_or_bilateral_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cryptorchidism_unilateral_or_bilateral_patient_1.json new file mode 100644 index 000000000..6d014a126 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cryptorchidism_unilateral_or_bilateral_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cryptorchidism,_unilateral_or_bilateral", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000104", + "label": "Renal agenesis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:219050", + "label": "Cryptorchidism, unilateral or bilateral" + } + } + ], + "metaData": { + "created": "2024-06-11T22:01:18.249485Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cryptotia_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cryptotia_familial_patient_1.json new file mode 100644 index 000000000..bec1899f5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cryptotia_familial_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cryptotia,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000356", + "label": "Abnormality of the outer ear" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:123557", + "label": "Cryptotia, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T20:11:05.792467Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cubitus_valgus_with_mental_retardation_and_unusual_facies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cubitus_valgus_with_mental_retardation_and_unusual_facies_patient_1.json new file mode 100644 index 000000000..bbf6ff8d8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cubitus_valgus_with_mental_retardation_and_unusual_facies_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cubitus_valgus_with_mental_retardation_and_unusual_facies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000490", + "label": "Deeply set eye" + } + }, + { + "type": { + "id": "HP:0005461", + "label": "Craniofacial disproportion" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300471", + "label": "Cubitus valgus with mental retardation and unusual facies" + } + } + ], + "metaData": { + "created": "2024-06-11T21:48:11.201649Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Culler_Jones_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Culler_Jones_syndrome_patient_1.json new file mode 100644 index 000000000..ba0c142e0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Culler_Jones_syndrome_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "culler-jones_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0000135", + "label": "Hypogonadism" + } + }, + { + "type": { + "id": "HP:0040086", + "label": "Abnormal prolactin level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615849", + "label": "Culler-Jones syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:37:50.232649Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Currarino_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Currarino_syndrome_patient_1.json new file mode 100644 index 000000000..3bbcfd8a9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Currarino_syndrome_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "currarino_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001153", + "label": "Septate vagina" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0007293", + "label": "Anterior sacral meningocele" + } + }, + { + "type": { + "id": "HP:0009793", + "label": "Presacral teratoma" + } + }, + { + "type": { + "id": "HP:0012718", + "label": "Abnormal gastrointestinal tract morphology" + } + }, + { + "type": { + "id": "HP:0000009", + "label": "Functional abnormality of the bladder" + } + }, + { + "type": { + "id": "HP:0000143", + "label": "Rectovaginal fistula" + } + }, + { + "type": { + "id": "HP:0009790", + "label": "Hemisacrum" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0100806", + "label": "Sepsis" + } + }, + { + "type": { + "id": "HP:0000085", + "label": "Horseshoe kidney" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0009789", + "label": "Perianal abscess" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:176450", + "label": "Currarino syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:45:16.652743Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Curry_Jones_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Curry_Jones_syndrome_patient_1.json new file mode 100644 index 000000000..cccd0c6a6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Curry_Jones_syndrome_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "curry-jones_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011304", + "label": "Broad thumb" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0012450", + "label": "Chronic constipation" + } + }, + { + "type": { + "id": "HP:0001233", + "label": "2-3 finger syndactyly" + } + }, + { + "type": { + "id": "HP:0009779", + "label": "3-4 toe syndactyly" + } + }, + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601707", + "label": "Curry-Jones syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:10:33.536010Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Curved_nail_of_fourth_toe_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Curved_nail_of_fourth_toe_patient_1.json new file mode 100644 index 000000000..2b1ba0a49 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Curved_nail_of_fourth_toe_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "curved_nail_of_fourth_toe", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009882", + "label": "Short distal phalanx of finger" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:219070", + "label": "Curved nail of fourth toe" + } + } + ], + "metaData": { + "created": "2024-06-11T20:27:52.416915Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cutaneous_mastocytosis_conductive_hearing_loss_and_microtia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cutaneous_mastocytosis_conductive_hearing_loss_and_microtia_patient_1.json new file mode 100644 index 000000000..7f8a6d48f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cutaneous_mastocytosis_conductive_hearing_loss_and_microtia_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "cutaneous_mastocytosis,_conductive_hearing_loss,_and_microtia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200151", + "label": "Cutaneous mastocytosis" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0009185", + "label": "Contracture of the proximal interphalangeal joint of the 5th finger" + } + }, + { + "type": { + "id": "HP:0009118", + "label": "Aplasia/Hypoplasia of the mandible" + } + }, + { + "type": { + "id": "HP:0011266", + "label": "Microtia, first degree" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0009924", + "label": "Aplasia/Hypoplasia involving the nose" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0005484", + "label": "Secondary microcephaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:248910", + "label": "Cutaneous mastocytosis, conductive hearing loss, and microtia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:00:30.669839Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cutaneous_photosensitivity_and_colitis_lethal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cutaneous_photosensitivity_and_colitis_lethal_patient_1.json new file mode 100644 index 000000000..3a237ae62 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cutaneous_photosensitivity_and_colitis_lethal_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cutaneous_photosensitivity_and_colitis,_lethal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010783", + "label": "Erythema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:219095", + "label": "Cutaneous photosensitivity and colitis, lethal" + } + } + ], + "metaData": { + "created": "2024-06-11T21:12:05.138706Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cutaneous_telangiectasia_and_cancer_syndrome_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cutaneous_telangiectasia_and_cancer_syndrome_familial_patient_1.json new file mode 100644 index 000000000..bb14d5de4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cutaneous_telangiectasia_and_cancer_syndrome_familial_patient_1.json @@ -0,0 +1,116 @@ +{ + "id": "cutaneous_telangiectasia_and_cancer_syndrome,_familial", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P79Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007380", + "label": "Facial telangiectasia" + } + }, + { + "type": { + "id": "HP:0005338", + "label": "Sparse lateral eyebrow" + } + }, + { + "type": { + "id": "HP:0012182", + "label": "Oropharyngeal squamous cell carcinoma" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + }, + { + "type": { + "id": "HP:0008404", + "label": "Nail dystrophy" + } + }, + { + "type": { + "id": "HP:0000670", + "label": "Carious teeth" + } + }, + { + "type": { + "id": "HP:0001596", + "label": "Alopecia" + } + }, + { + "type": { + "id": "HP:0001807", + "label": "Ridged nail" + } + }, + { + "type": { + "id": "HP:0025127", + "label": "Actinic keratosis" + } + }, + { + "type": { + "id": "HP:0007583", + "label": "Telangiectasia macularis eruptiva perstans" + } + }, + { + "type": { + "id": "HP:0000685", + "label": "Hypoplasia of teeth" + } + }, + { + "type": { + "id": "HP:0011119", + "label": "Abnormal nasal dorsum morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614564", + "label": "Cutaneous telangiectasia and cancer syndrome, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T19:39:22.056825Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cutis_laxa_autosomal_dominant_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cutis_laxa_autosomal_dominant_1_patient_1.json new file mode 100644 index 000000000..73e0f3f97 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cutis_laxa_autosomal_dominant_1_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "cutis_laxa,_autosomal_dominant_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001582", + "label": "Redundant skin" + } + }, + { + "type": { + "id": "HP:0005328", + "label": "Progeroid facial appearance" + } + }, + { + "type": { + "id": "HP:0000444", + "label": "Convex nasal ridge" + } + }, + { + "type": { + "id": "HP:0030966", + "label": "Abnormal pulmonary artery morphology" + } + }, + { + "type": { + "id": "HP:0031105", + "label": "Abnormal uterus morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:123700", + "label": "Cutis laxa, autosomal dominant 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:01:54.609694Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cutis_laxa_autosomal_dominant_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cutis_laxa_autosomal_dominant_2_patient_1.json new file mode 100644 index 000000000..c2badda46 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cutis_laxa_autosomal_dominant_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "cutis_laxa,_autosomal_dominant_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008453", + "label": "Congenital kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0007595", + "label": "Redundant skin in infancy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614434", + "label": "Cutis laxa, autosomal dominant 2" + } + } + ], + "metaData": { + 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diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cutis_laxa_autosomal_recessive_type_IIE_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cutis_laxa_autosomal_recessive_type_IIE_patient_1.json new file mode 100644 index 000000000..90e8c5d35 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cutis_laxa_autosomal_recessive_type_IIE_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "cutis_laxa,_autosomal_recessive,_type_iie", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006191", + "label": "Deep palmar crease" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0000767", + "label": "Pectus excavatum" + } + }, + { + "type": { + "id": "HP:0034271", + "label": "Copper beaten skull" + } + }, + { + "type": { + "id": "HP:0001363", + "label": "Craniosynostosis" + } + }, + { + "type": { + "id": "HP:0005272", + "label": "Prominent nasolabial 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cutis_laxa_autosomal_recessive_type_IIIB_patient_1.json @@ -0,0 +1,177 @@ +{ + "id": "cutis_laxa,_autosomal_recessive,_type_iiib", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000592", + "label": "Blue sclerae" + } + }, + { + "type": { + "id": "HP:0000358", + "label": "Posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0000938", + "label": "Osteopenia" + } + }, + { + "type": { + "id": "HP:0007392", + "label": "Excessive wrinkled skin" + } + }, + { + "type": { + "id": "HP:0010648", + "label": "Dermal translucency" + } + }, + { + "type": { + "id": "HP:0008070", + "label": "Sparse hair" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0002021", + "label": "Pyloric stenosis" + } + }, + { + "type": { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cutis_laxa_neonatal_with_marfanoid_phenotype_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cutis_laxa_neonatal_with_marfanoid_phenotype_patient_1.json new file mode 100644 index 000000000..51afb5044 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cutis_laxa_neonatal_with_marfanoid_phenotype_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "cutis_laxa,_neonatal,_with_marfanoid_phenotype", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0032967", + "label": "Panacinar emphysema" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0001166", + "label": "Arachnodactyly" + } + }, + { + "type": { + "id": "HP:0025194", + "label": "Morgagni diaphragmatic hernia" + } + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cyanosis_transient_neonatal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cyanosis_transient_neonatal_patient_1.json new file mode 100644 index 000000000..536d640ec --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cyanosis_transient_neonatal_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "cyanosis,_transient_neonatal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001923", + "label": "Reticulocytosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613977", + "label": "Cyanosis, transient neonatal" + } + } + ], + "metaData": { + "created": "2024-06-11T20:01:26.839583Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cyclic_vomiting_syndrome_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "cyclic_vomiting_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002579", + "label": "Gastrointestinal dysmotility" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0002027", + "label": "Abdominal pain" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0002013", + "label": "Vomiting" + } + }, + { + "type": { + "id": "HP:0001254", + "label": "Lethargy" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0002315", + "label": "Headache" + } + }, + { + "type": { + "id": "HP:0000717", + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Cystinosis_adult_nonnephropathic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cystinosis_adult_nonnephropathic_patient_1.json new file mode 100644 index 000000000..3ebde95f2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cystinosis_adult_nonnephropathic_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "cystinosis,_adult_nonnephropathic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032639", + "label": "Elevated leukocyte cystine" + } + }, + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0000531", + "label": "Corneal crystals" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:219750", + "label": "Cystinosis, adult nonnephropathic" + } + } + ], + "metaData": { + "created": "2024-06-11T23:17:04.592787Z", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Cystinosis_late_onset_juvenile_or_adolescent_nephropathic_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "cystinosis,_late-onset_juvenile_or_adolescent_nephropathic", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P15Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + } + }, + { + "type": { + "id": "HP:0004328", + "label": "Abnormal anterior eye segment morphology" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:219900", + "label": "Cystinosis, late-onset juvenile or adolescent nephropathic" + } + } + ], + "metaData": { + "created": "2024-06-11T21:37:52.796809Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", 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--git a/corpora/synthetic_based_on_hpoa/default/phenopackets/DERMOODONTODYSPLASIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/DERMOODONTODYSPLASIA_patient_1.json new file mode 100644 index 000000000..add4a7cde --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/DERMOODONTODYSPLASIA_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dermoodontodysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002164", + "label": "Nail dysplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125640", + "label": "DERMOODONTODYSPLASIA" + } + } + ], + "metaData": { + "created": "2024-06-11T20:10:46.564289Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/DISTICHIASIS_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/DISTICHIASIS_patient_1.json new file mode 100644 index 000000000..e72ffc7da --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/DISTICHIASIS_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "distichiasis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009743", + "label": "Distichiasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:126300", + "label": "DISTICHIASIS" + } + } + ], + "metaData": { + "created": "2024-06-11T17:44:40.975790Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/D_2_hydroxyglutaric_aciduria_2_patient_1.json new file mode 100644 index 000000000..f7d760f7a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/D_2_hydroxyglutaric_aciduria_2_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "d-2-hydroxyglutaric_aciduria_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001638", + "label": "Cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0012321", + "label": "D-2-hydroxyglutaric aciduria" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613657", + "label": "D-2-hydroxyglutaric aciduria 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:32:52.183556Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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+ "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/D_lactic_aciduria_with_susceptibility_to_gout_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/D_lactic_aciduria_with_susceptibility_to_gout_patient_1.json new file mode 100644 index 000000000..f0096dddb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/D_lactic_aciduria_with_susceptibility_to_gout_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "d-lactic_aciduria_with_susceptibility_to_gout", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:6000467", + "label": "Elevated urine D-lactate level" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000526", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dandy_Walker_malformation_with_occipital_cephalocele_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..72ef6ff82 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dandy_Walker_malformation_with_occipital_cephalocele_autosomal_dominant_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dandy-walker_malformation_with_occipital_cephalocele,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001305", + "label": "Dandy-Walker malformation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609222", + "label": "Dandy-Walker malformation with occipital cephalocele, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T18:48:51.600278Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dandy_Walker_malformation_with_postaxial_polydactyly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dandy_Walker_malformation_with_postaxial_polydactyly_patient_1.json new file mode 100644 index 000000000..b67e7f92d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dandy_Walker_malformation_with_postaxial_polydactyly_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "dandy-walker_malformation_with_postaxial_polydactyly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000930", + "label": "Elevated imprint of the transverse sinuses" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + }, + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + } + }, + { + "type": { + "id": "HP:0006817", + "label": "Aplasia/Hypoplasia of the cerebellar vermis" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0100572", + "label": "Fibrous cardiac diverticulum" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + }, + { + "type": { + "id": "HP:0002951", + "label": "Partial absence of cerebellar vermis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:220220", + "label": "Dandy-Walker malformation with postaxial polydactyly" + } + } + ], + "metaData": { + "created": 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"dandy-walker_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000933", + "label": "Posterior fossa cyst at the fourth ventricle" + } + }, + { + "type": { + "id": "HP:0031910", + "label": "Abnormal cranial nerve physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:220200", + "label": "Dandy-Walker syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:35:50.765812Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Danon_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Danon_disease_patient_1.json new file mode 100644 index 000000000..0e0d111f4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Danon_disease_patient_1.json @@ -0,0 +1,159 @@ +{ + "id": "danon_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001644", + "label": "Dilated cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0003690", + "label": "Limb muscle weakness" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0001640", + "label": "Cardiomegaly" + } + }, + { + "type": { + "id": "HP:0001635", + "label": "Congestive heart failure" + } + }, + { + "type": { + "id": "HP:0025717", + "label": "Skeletal muscle autophagosome accumulation" + } + }, + { + "type": { + "id": "HP:0003700", + "label": "Generalized amyotrophy" + } + }, + { + "type": { + "id": "HP:0001700", + "label": "Myocardial necrosis" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0003710", + "label": "Exercise-induced muscle cramps" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + }, + { + "type": { + "id": "HP:0002374", + "label": "Diminished movement" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0003392", + "label": "First dorsal interossei muscle weakness" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0030235", + "label": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Danubian_endemic_familial_nephropathy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Danubian_endemic_familial_nephropathy_patient_1.json new file mode 100644 index 000000000..37c71511e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Danubian_endemic_familial_nephropathy_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "danubian_endemic_familial_nephropathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000112", + "label": "Nephropathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:124100", + "label": "Danubian endemic familial nephropathy" + } + } + ], + "metaData": { + "created": "2024-06-11T18:48:10.167234Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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"version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Darwinian_point_of_pinna_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Darwinian_point_of_pinna_patient_1.json new file mode 100644 index 000000000..2d74b3b8a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Darwinian_point_of_pinna_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "darwinian_point_of_pinna", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011261", + "label": "Darwin tubercle of helix" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:124300", + "label": "Darwinian point of pinna" + } + } + ], + "metaData": { + "created": "2024-06-11T19:09:00.986906Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0002415", + "label": "Leukodystrophy" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0002069", + "label": "Bilateral tonic-clonic seizure" + } + }, + { + "type": { + "id": "HP:0001265", + "label": "Hyporeflexia" + } + }, + { + "type": { + "id": "HP:0001276", + "label": "Hypertonia" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001009", + "label": "Telangiectasia" + } + }, + { + "type": { + "id": "HP:0001284", + "label": "Areflexia" + } + }, + { + "type": { + "id": "HP:0009830", + "label": "Peripheral neuropathy" + } + }, + { + "type": { + "id": "HP:0010665", + "label": "Bilateral coxa valga" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0008110", + "label": "Equinovarus deformity" + } + }, + { + "type": { + "id": 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impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:278800", + "label": "De Sanctis-Cacchione syndrome" + } + } + ], + "metaData": { + "created": "2024-06-12T00:50:44.166580Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_Oligodontia_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_Oligodontia_syndrome_patient_1.json new file mode 100644 index 000000000..e54cf0c55 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_Oligodontia_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness-oligodontia_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000677", + "label": "Oligodontia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:221740", + "label": "Deafness-Oligodontia syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:12:59.317515Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_X_linked_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_X_linked_1_patient_1.json new file mode 100644 index 000000000..c4897e4a6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_X_linked_1_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "deafness,_x-linked_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:304500", + "label": "Deafness, X-linked 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:49:10.572424Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_X_linked_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_X_linked_2_patient_1.json new file mode 100644 index 000000000..5147c000f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_X_linked_2_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "deafness,_x-linked_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008527", + "label": "Congenital sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0012716", + "label": "Moderate conductive hearing impairment" + } + }, + { + "type": { + "id": "HP:0004458", + "label": "Dilatated internal auditory canal" + } + }, + { + "type": { + "id": "HP:0000364", + "label": "Hearing abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:304400", + "label": "Deafness, X-linked 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:31:57.997084Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_X_linked_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_X_linked_3_patient_1.json new file mode 100644 index 000000000..84890793a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_X_linked_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "deafness,_x-linked_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008527", + "label": "Congenital sensorineural hearing impairment" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300030", + "label": "Deafness, X-linked 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:06:28.351093Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_X_linked_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_X_linked_4_patient_1.json new file mode 100644 index 000000000..46b0e1025 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_X_linked_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_x-linked_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005101", + "label": "High-frequency hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300066", + "label": "Deafness, X-linked 4" + } + } + ], + "metaData": { + "created": "2024-06-11T22:24:21.672855Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_X_linked_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_X_linked_5_patient_1.json new file mode 100644 index 000000000..ee3d8dc7f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_X_linked_5_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "deafness,_x-linked_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000360", + "label": "Tinnitus" + } + }, + { + "type": { + "id": "HP:0034585", + "label": "Cochlear nerve hypoplasia" + } + }, + { + "type": { + "id": "HP:0002936", + "label": "Distal sensory impairment" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0003390", + "label": "Sensory axonal neuropathy" + } + }, + { + "type": { + "id": "HP:0006962", + "label": "Gait instability, worse in the dark" + } + }, + { + "type": { + "id": "HP:0001315", + "label": "Reduced tendon reflexes" + } + }, + { + "type": { + "id": "HP:0001963", + "label": "Abnormal speech discrimination" + } + }, + { + "type": { + "id": "HP:0011452", + "label": "Functional abnormality of the middle ear" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300614", + "label": "Deafness, X-linked 5" + } + } + ], + "metaData": { + "created": "2024-06-11T23:34:41.571537Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_X_linked_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_X_linked_6_patient_1.json new file mode 100644 index 000000000..01466057d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_X_linked_6_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "deafness,_x-linked_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008619", + "label": "Bilateral sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300914", + "label": "Deafness, X-linked 6" + } + } + ], + "metaData": { + "created": "2024-06-11T19:54:22.165399Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_X_linked_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_X_linked_7_patient_1.json new file mode 100644 index 000000000..784337415 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_X_linked_7_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "deafness,_x-linked_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000372", + "label": "Abnormal auditory canal morphology" + } + }, + { + "type": { + "id": "HP:0000506", + "label": "Telecanthus" + } + }, + { + "type": { + "id": "HP:0040102", + "label": "Osseous atresia of the external auditory canal" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301018", + "label": "Deafness, X-linked 7" + } + } + ], + "metaData": { + "created": "2024-06-11T22:12:23.534643Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_aminoglycoside_induced_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_aminoglycoside_induced_patient_1.json new file mode 100644 index 000000000..daae6ee0f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_aminoglycoside_induced_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_aminoglycoside-induced", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011975", + "label": "Aminoglycoside-induced hearing loss" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:580000", + "label": "Deafness, aminoglycoside-induced" + } + } + ], + "metaData": { + "created": "2024-06-11T21:04:30.581790Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_and_myopia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_and_myopia_patient_1.json new file mode 100644 index 000000000..a5938571c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_and_myopia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness_and_myopia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:221200", + "label": "Deafness and myopia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:41:46.722877Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_15_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_15_patient_1.json new file mode 100644 index 000000000..2d2278d4d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_15_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_15", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602459", + "label": "Deafness, autosomal dominant 15" + } + } + ], + "metaData": { + "created": "2024-06-11T20:56:41.025836Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_16_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_16_patient_1.json new file mode 100644 index 000000000..84f6b5943 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_16_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_16", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008615", + "label": "Adult onset sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603964", + "label": "Deafness, autosomal dominant 16" + } + } + ], + "metaData": { + "created": "2024-06-11T19:31:05.175286Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_18_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_18_patient_1.json new file mode 100644 index 000000000..fb59fa680 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_18_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_18", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001730", + "label": "Progressive hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606012", + "label": "Deafness, autosomal dominant 18" + } + } + ], + "metaData": { + "created": "2024-06-11T20:35:54.156499Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_1_patient_1.json new file mode 100644 index 000000000..456a2a8ce --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_1_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "deafness,_autosomal_dominant_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0040185", + "label": "Macrothrombocytopenia" + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + }, + { + "type": { + "id": "HP:0011873", + "label": "Abnormal platelet count" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:124900", + "label": "Deafness, autosomal dominant 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:51:37.270365Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_20_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_20_patient_1.json new file mode 100644 index 000000000..50e0c6575 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_20_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_20", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008619", + "label": "Bilateral sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604717", + "label": "Deafness, autosomal dominant 20" + } + } + ], + "metaData": { + "created": "2024-06-11T18:25:35.673811Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607017", + "label": "Deafness, autosomal dominant 21" + } + } + ], + "metaData": { + "created": "2024-06-11T22:51:30.590691Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_22_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_22_patient_1.json new file mode 100644 index 000000000..cad6b5d2d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_22_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_22", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000408", + "label": "Progressive sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606346", + "label": "Deafness, autosomal dominant 22" + } + } + ], + "metaData": { + "created": "2024-06-11T22:30:16.268264Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_24_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_24", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606282", + "label": "Deafness, autosomal dominant 24" + } + } + ], + "metaData": { + "created": "2024-06-11T22:42:11.699862Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_25_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_25_patient_1.json new file mode 100644 index 000000000..5ba1f5a9a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_25_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_25", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605583", + "label": "Deafness, autosomal dominant 25" + } + } + ], + "metaData": { + "created": "2024-06-11T18:13:20.527963Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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} + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612431", + "label": "Deafness, autosomal dominant 27" + } + } + ], + "metaData": { + "created": "2024-06-11T23:15:01.267119Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_2B_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_2B_patient_1.json new file mode 100644 index 000000000..c97b0cea3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_2B_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_2b", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005101", + "label": "High-frequency hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612644", + "label": "Deafness, autosomal dominant 2B" + } + } + ], + "metaData": { + "created": "2024-06-11T21:34:07.850472Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_30_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_30_patient_1.json new file mode 100644 index 000000000..ba0cc9016 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_30_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_30", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_31_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_31", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040113", + "label": "Old-aged sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608645", + "label": "Deafness, autosomal dominant 31" + } + } + ], + "metaData": { + "created": "2024-06-12T00:31:50.213062Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_33_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_33_patient_1.json new file mode 100644 index 000000000..bf9e69ee3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_33_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_33", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614211", + "label": "Deafness, autosomal dominant 33" + } + } + ], + "metaData": { + "created": "2024-06-11T20:22:46.199580Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_34_with_or_without_inflammation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_34_with_or_without_inflammation_patient_1.json new file mode 100644 index 000000000..89e8b3888 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_34_with_or_without_inflammation_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "deafness,_autosomal_dominant_34,_with_or_without_inflammation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001945", + "label": "Fever" + } + }, + { + "type": { + "id": "HP:0033087", + "label": "Quotidian fever" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617772", + "label": "Deafness, autosomal dominant 34, with or without inflammation" + } + } + ], + "metaData": { + "created": "2024-06-11T23:36:27.011914Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_36_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_36_patient_1.json new file mode 100644 index 000000000..65c9d2409 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_36_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "deafness,_autosomal_dominant_36", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P14Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000360", + "label": "Tinnitus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606705", + "label": "Deafness, autosomal dominant 36" + } + } + ], + "metaData": { + "created": "2024-06-11T18:05:35.657982Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_39_with_dentinogenesis_imperfecta_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_39_with_dentinogenesis_imperfecta_1_patient_1.json new file mode 100644 index 000000000..ba1e3650f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_39_with_dentinogenesis_imperfecta_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_39,_with_dentinogenesis_imperfecta_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005101", + "label": "High-frequency hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605594", + "label": "Deafness, autosomal dominant 39, with dentinogenesis imperfecta 1" + } + } + ], + "metaData": { + "created": "2024-06-11T17:48:47.991882Z", + "createdBy": "phenotype2phenopacket", + 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"patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008615", + "label": "Adult onset sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612643", + "label": "Deafness, autosomal dominant 3B" + } + } + ], + "metaData": { + "created": "2024-06-11T22:33:18.652070Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_40_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_40_patient_1.json new file mode 100644 index 000000000..26a5130fa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_40_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_40", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616357", + "label": "Deafness, autosomal dominant 40" + } + } + ], + "metaData": { + "created": "2024-06-11T22:33:01.924139Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_43_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_43", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608394", + "label": "Deafness, autosomal dominant 43" + } + } + ], + "metaData": { + "created": "2024-06-11T22:29:47.075646Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_44_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_44_patient_1.json new file mode 100644 index 000000000..021fa974b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_44_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "deafness,_autosomal_dominant_44", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P7Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607453", + "label": "Deafness, autosomal dominant 44" + } + } + ], + "metaData": { + "created": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_48_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_48_patient_1.json new file mode 100644 index 000000000..84acc463a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_48_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_48", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607841", + "label": "Deafness, autosomal dominant 48" + } + } + ], + "metaData": { + "created": "2024-06-11T21:03:54.055722Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_50_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "deafness,_autosomal_dominant_50", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0001730", + "label": "Progressive hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613074", + "label": "Deafness, autosomal dominant 50" + } + } + ], + "metaData": { + "created": "2024-06-11T23:20:29.878724Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_51_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_51_patient_1.json new file mode 100644 index 000000000..abb097ae4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_51_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_51", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613558", + "label": "Deafness, autosomal dominant 51" + } + } + ], + "metaData": { + "created": "2024-06-11T21:19:35.237648Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_53_patient_1.json new file mode 100644 index 000000000..7ee8605a1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_53_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "deafness,_autosomal_dominant_53", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P12Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609965", + "label": "Deafness, autosomal dominant 53" + } + } + ], + "metaData": { + "created": "2024-06-11T18:18:22.600511Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + 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000000000..795e56b6c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_56_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_56", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615629", + "label": "Deafness, autosomal dominant 56" + } + } + ], + "metaData": { + "created": "2024-06-12T02:16:32.452650Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + 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"deafness,_autosomal_dominant_59", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ], + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612642", + "label": "Deafness, autosomal dominant 59" + } + } + ], + "metaData": { + "created": "2024-06-11T22:23:20.255618Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_64_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_64_patient_1.json new file mode 100644 index 000000000..bb7bb607b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_64_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_64", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000360", + "label": "Tinnitus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614152", + "label": "Deafness, autosomal dominant 64" + } + } + ], + "metaData": { + "created": "2024-06-11T21:52:02.669702Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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} + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001730", + "label": "Progressive hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011462", + "label": "Young adult onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616044", + "label": "Deafness, autosomal dominant 65" + } + } + ], + "metaData": { + "created": "2024-06-11T23:29:54.199296Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_66_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_66_patient_1.json new file mode 100644 index 000000000..a10fc258f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_66_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_66", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616969", + "label": "Deafness, autosomal dominant 66" + } + } + ], + "metaData": { + "created": "2024-06-11T21:00:09.746853Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_68_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "deafness,_autosomal_dominant_68", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P7Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616707", + "label": "Deafness, autosomal dominant 68" + } + } + ], + "metaData": { + "created": "2024-06-11T18:32:52.225444Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian 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@@ +{ + "id": "deafness,_autosomal_dominant_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000408", + "label": "Progressive sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600965", + "label": "Deafness, autosomal dominant 6" + } + } + ], + "metaData": { + "created": "2024-06-11T23:41:00.171311Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_70_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_70_patient_1.json new file mode 100644 index 000000000..98c127308 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_70_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_70", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000408", + "label": "Progressive sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616968", + "label": "Deafness, autosomal dominant 70" + } + } + ], + "metaData": { + "created": "2024-06-11T20:41:55.048242Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_72_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_72_patient_1.json new file mode 100644 index 000000000..84e9ce415 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_72_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_72", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000360", + "label": "Tinnitus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617606", + "label": "Deafness, autosomal dominant 72" + } + } + ], + "metaData": { + "created": "2024-06-11T23:32:40.879988Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_74_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_74", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618140", + "label": "Deafness, autosomal dominant 74" + } + } + ], + "metaData": { + "created": "2024-06-11T21:13:24.806743Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_75_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_75_patient_1.json new file mode 100644 index 000000000..335574fa3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_75_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "deafness,_autosomal_dominant_75", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P17Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618778", + "label": "Deafness, autosomal dominant 75" + } + } + ], + "metaData": { + "created": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_77_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_77_patient_1.json new file mode 100644 index 000000000..bbe927b1a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_77_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "deafness,_autosomal_dominant_77", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P39Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618915", + "label": "Deafness, autosomal dominant 77" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:50.615064Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": 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], + "diseases": [ + { + "term": { + "id": "OMIM:619086", + "label": "Deafness, autosomal dominant 79" + } + } + ], + "metaData": { + "created": "2024-06-11T20:54:18.473288Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_80_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_80_patient_1.json new file mode 100644 index 000000000..6c30cb541 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_80_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_80", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008527", + "label": "Congenital sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619274", + "label": "Deafness, autosomal dominant 80" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:12.492492Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": 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"type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619804", + "label": "Deafness, autosomal dominant 82" + } + } + ], + "metaData": { + "created": "2024-06-11T18:51:18.051238Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_83_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_83_patient_1.json new file mode 100644 index 000000000..6777c3f99 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_83_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_83", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008619", + "label": "Bilateral sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619808", + "label": "Deafness, autosomal dominant 83" + } + } + ], + "metaData": { + "created": "2024-06-11T23:25:12.022986Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online 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+1,45 @@ +{ + "id": "deafness,_autosomal_dominant_85", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620227", + "label": "Deafness, autosomal dominant 85" + } + } + ], + "metaData": { + "created": "2024-06-11T21:24:29.146631Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_86_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_86_patient_1.json new file mode 100644 index 000000000..d26fc2728 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_86_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "deafness,_autosomal_dominant_86", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P57Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000360", + "label": "Tinnitus" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620280", + "label": "Deafness, autosomal dominant 86" + } + } + ], + "metaData": { + "created": "2024-06-11T23:31:20.566788Z", 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"deafness,_autosomal_dominant_87", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000376", + "label": "Incomplete partition of the cochlea type II" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620281", + "label": "Deafness, autosomal dominant 87" + } + } + ], + "metaData": { + "created": "2024-06-11T23:54:48.764800Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_88_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_88_patient_1.json new file mode 100644 index 000000000..3c368b2a4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_88_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_88", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620283", + "label": "Deafness, autosomal dominant 88" + } + } + ], + "metaData": { + "created": "2024-06-11T23:56:19.744515Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_89_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_89_patient_1.json new file mode 100644 index 000000000..c8b10a3f1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_89_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_89", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620284", + "label": "Deafness, autosomal dominant 89" + } + } + ], + "metaData": { + "created": "2024-06-11T23:29:24.381577Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_9_patient_1.json new file mode 100644 index 000000000..8e36ac735 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_9_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000360", + "label": "Tinnitus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601369", + "label": "Deafness, autosomal dominant 9" + } + } + ], + "metaData": { + "created": "2024-06-11T19:56:00.753365Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_10_patient_1.json new file mode 100644 index 000000000..c1283534d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_10_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_nonsyndromic_sensorineural_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601316", + "label": "Deafness, autosomal dominant nonsyndromic sensorineural 10" + } + } + ], + "metaData": { + "created": "2024-06-11T23:20:32.522675Z", + "createdBy": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_11_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_nonsyndromic_sensorineural_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008619", + "label": "Bilateral sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601317", + "label": "Deafness, autosomal dominant nonsyndromic sensorineural 11" + } + } + ], + "metaData": { + "created": "2024-06-11T23:15:45.536281Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_12_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_12_patient_1.json new file mode 100644 index 000000000..02fa91a83 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_12_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_nonsyndromic_sensorineural_12", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601543", + "label": "Deafness, autosomal dominant nonsyndromic sensorineural 12" + } + } + ], + "metaData": { + "created": "2024-06-11T20:39:19.975872Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_13_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_13_patient_1.json new file mode 100644 index 000000000..3e2edc296 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_13_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "deafness,_autosomal_dominant_nonsyndromic_sensorineural_13", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601868", + "label": "Deafness, autosomal dominant nonsyndromic sensorineural 13" + } + } + ], + "metaData": { + "created": "2024-06-11T23:14:27.162130Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_17_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_17_patient_1.json new file mode 100644 index 000000000..7c72ac316 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_17_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_nonsyndromic_sensorineural_17", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005101", + "label": "High-frequency hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603622", + "label": "Deafness, autosomal dominant nonsyndromic sensorineural 17" + } + } + ], + "metaData": { + "created": "2024-06-11T19:41:40.902447Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_28_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_28_patient_1.json new file mode 100644 index 000000000..7cc2a8195 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_28_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_nonsyndromic_sensorineural_28", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608641", + "label": "Deafness, autosomal dominant nonsyndromic sensorineural 28" + } + } + ], + "metaData": { + "created": "2024-06-11T22:59:49.771912Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_2_patient_1.json new file mode 100644 index 000000000..fb04d2789 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "deafness,_autosomal_dominant_nonsyndromic_sensorineural_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_3_patient_1.json new file mode 100644 index 000000000..85a1b43e8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_nonsyndromic_sensorineural_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601544", + "label": "Deafness, autosomal dominant nonsyndromic sensorineural 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:23:40.640427Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"deafness,_autosomal_dominant_nonsyndromic_sensorineural_49", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608372", + "label": "Deafness, autosomal dominant nonsyndromic sensorineural 49" + } + } + ], + "metaData": { + "created": "2024-06-11T19:33:24.949943Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_4_patient_1.json new file mode 100644 index 000000000..43c758576 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_nonsyndromic_sensorineural_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000408", + "label": "Progressive sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600652", + "label": "Deafness, autosomal dominant nonsyndromic sensorineural 4" + } + } + ], + "metaData": { + "created": "2024-06-11T21:26:41.275946Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_5_patient_1.json new file mode 100644 index 000000000..d5451292a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_nonsyndromic_sensorineural_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000408", + "label": "Progressive sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600994", + "label": "Deafness, autosomal dominant nonsyndromic sensorineural 5" + } + } + ], + "metaData": { + "created": "2024-06-11T17:58:18.389357Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_7_patient_1.json new file mode 100644 index 000000000..6ecd50853 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_dominant_nonsyndromic_sensorineural_7_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_dominant_nonsyndromic_sensorineural_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005101", + "label": "High-frequency hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601412", + "label": "Deafness, autosomal dominant nonsyndromic sensorineural 7" + } + } + ], + "metaData": { + "created": "2024-06-11T21:37:41.088366Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_100_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_100_patient_1.json new file mode 100644 index 000000000..b91d940f7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_100_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "deafness,_autosomal_recessive_100", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618422", + "label": "Deafness, autosomal recessive 100" + } + } + ], + "metaData": { + "created": "2024-06-11T21:56:39.248127Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_101_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_101_patient_1.json new file mode 100644 index 000000000..04c453581 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_101_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_101", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008619", + "label": "Bilateral sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615837", + "label": "Deafness, autosomal recessive 101" + } + } + ], + "metaData": { + "created": "2024-06-11T22:59:03.241315Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_102_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_102_patient_1.json new file mode 100644 index 000000000..8fc57b4b4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_102_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_102", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012715", + "label": "Profound hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615974", + "label": "Deafness, autosomal recessive 102" + } + } + ], + "metaData": { + "created": "2024-06-11T18:12:52.264648Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_103_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_103_patient_1.json new file mode 100644 index 000000000..2face7607 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_103_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "deafness,_autosomal_recessive_103", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001751", + "label": "Abnormal vestibular function" + } + }, + { + "type": { + "id": "HP:0008619", + "label": "Bilateral sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616042", + "label": "Deafness, autosomal recessive 103" + } + } + ], + "metaData": { + "created": "2024-06-12T02:23:37.869426Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_104_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_104_patient_1.json new file mode 100644 index 000000000..104e51160 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_104_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "deafness,_autosomal_recessive_104", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000399", + "label": "Prelingual sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0006958", + "label": "Abnormal auditory 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new file mode 100644 index 000000000..31a41cebc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_106_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "deafness,_autosomal_recessive_106", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P4Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617637", + "label": "Deafness, autosomal recessive 106" + } + } + ], + "metaData": { + "created": "2024-06-11T18:27:05.436982Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_107_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_107_patient_1.json new file mode 100644 index 000000000..3415248ec --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_107_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "deafness,_autosomal_recessive_107", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617639", + "label": "Deafness, autosomal recessive 107" + } + } + ], + "metaData": { + "created": "2024-06-12T00:30:19.339778Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_108_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_108_patient_1.json new file mode 100644 index 000000000..3e7ab167a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_108_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "deafness,_autosomal_recessive_108", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008527", + "label": "Congenital sensorineural hearing impairment" + }, + "modifiers": [ + { + "id": "HP:0012829", + "label": "Profound" + } + ], + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617654", + "label": "Deafness, autosomal recessive 108" + } + } + ], + "metaData": { + "created": "2024-06-11T20:08:11.949014Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"HP:0011380", + "label": "Abnormal semicircular canal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618013", + "label": "Deafness, autosomal recessive 109" + } + } + ], + "metaData": { + "created": "2024-06-11T20:12:46.500580Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_110_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_110_patient_1.json new file mode 100644 index 000000000..6199dea9d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_110_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "deafness,_autosomal_recessive_110", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618094", + "label": "Deafness, autosomal recessive 110" + } + } + ], + "metaData": { + "created": "2024-06-11T22:43:19.422670Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + 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+++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_112_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_112", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618257", + "label": "Deafness, autosomal recessive 112" + } + } + ], + "metaData": { + "created": "2024-06-11T23:26:06.347707Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_114_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "deafness,_autosomal_recessive_114", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618456", + "label": "Deafness, autosomal recessive 114" + } + } + ], + "metaData": { + "created": "2024-06-12T00:31:50.252910Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_117_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_117_patient_1.json new file mode 100644 index 000000000..3d8290178 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_117_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "deafness,_autosomal_recessive_117", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P4Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619174", + "label": "Deafness, autosomal recessive 117" + } + } + ], + "metaData": { + "created": "2024-06-11T23:10:07.037240Z", + "createdBy": "phenotype2phenopacket", + "resources": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_13_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_13", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603098", + "label": "Deafness, autosomal recessive 13" + } + } + ], + "metaData": { + "created": "2024-06-11T22:49:43.056936Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_14_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_14_patient_1.json new file mode 100644 index 000000000..1f8e3fcac --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_14_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "deafness,_autosomal_recessive_14", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603678", + "label": "Deafness, autosomal recessive 14" + } + } + ], + "metaData": { + "created": 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+1,45 @@ +{ + "id": "deafness,_autosomal_recessive_15", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000399", + "label": "Prelingual sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601869", + "label": "Deafness, autosomal recessive 15" + } + } + ], + "metaData": { + "created": "2024-06-11T23:21:55.880719Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_16_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_16_patient_1.json new file mode 100644 index 000000000..5ec7f650b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_16_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_16", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603720", + "label": "Deafness, autosomal recessive 16" + } + } + ], + "metaData": { + "created": "2024-06-11T17:51:37.700724Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_17_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_17_patient_1.json new file mode 100644 index 000000000..c912f2073 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_17_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_17", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_18B_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_18b", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001756", + "label": "Vestibular hypofunction" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614945", + "label": "Deafness, autosomal recessive 18B" + } + } + ], + "metaData": { + "created": "2024-06-11T20:50:45.195365Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_1A_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_1A_patient_1.json new file mode 100644 index 000000000..901c616d5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_1A_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_1a", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001751", + "label": "Abnormal vestibular function" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:220290", + "label": "Deafness, autosomal recessive 1A" + } + } + ], + "metaData": { + "created": "2024-06-11T18:03:09.861408Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_20_patient_1.json new file mode 100644 index 000000000..ca870b6c6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_20_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "deafness,_autosomal_recessive_20", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604060", + "label": "Deafness, autosomal recessive 20" + } + } + ], + "metaData": { + "created": "2024-06-11T18:48:44.486983Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_22_patient_1.json new file mode 100644 index 000000000..dac191df1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_22_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_22", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607039", + "label": "Deafness, autosomal recessive 22" + } + } + ], + "metaData": { + "created": "2024-06-11T23:39:57.004114Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_24_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive,_24", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011476", + "label": "Profound sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611022", + "label": "Deafness, autosomal recessive, 24" + } + } + ], + "metaData": { + "created": "2024-06-11T20:38:42.106100Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_25_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_25_patient_1.json new file mode 100644 index 000000000..37992781a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_25_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "deafness,_autosomal_recessive_25", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005101", + "label": "High-frequency hearing impairment" + } + }, + { + "type": { + "id": "HP:0000408", + "label": "Progressive sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613285", + "label": "Deafness, autosomal recessive 25" + } + } + ], + "metaData": { + "created": "2024-06-11T18:48:10.153578Z", + 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"deafness,_autosomal_recessive_26", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605428", + "label": "Deafness, autosomal recessive 26" + } + } + ], + "metaData": { + "created": "2024-06-11T23:23:49.349801Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_27_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_27_patient_1.json new file mode 100644 index 000000000..06237301f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_27_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_27", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605818", + "label": "Deafness, autosomal recessive 27" + } + } + ], + "metaData": { + "created": "2024-06-11T23:17:42.595924Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_28_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_28_patient_1.json new file mode 100644 index 000000000..0a5ebe53a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_28_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_28", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008625", + "label": "Severe sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_29_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_29", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614035", + "label": "Deafness, autosomal recessive 29" + } + } + ], + "metaData": { + "created": "2024-06-11T21:17:06.726775Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_30_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_30_patient_1.json new file mode 100644 index 000000000..f6910a747 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_30_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_30", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000408", + "label": "Progressive sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607101", + "label": "Deafness, autosomal recessive 30" + } + } + ], + "metaData": { + "created": "2024-06-11T21:25:30.897716Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_32_with_or_without_immotile_sperm_patient_1.json new file mode 100644 index 000000000..f30f049e0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_32_with_or_without_immotile_sperm_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "deafness,_autosomal_recessive_32,_with_or_without_immotile_sperm", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P7Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0012208", + "label": "Immotile sperm" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608653", + "label": "Deafness, autosomal recessive 32, with or without immotile sperm" + } + } + ], + "metaData": { + "created": "2024-06-11T23:48:43.114155Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_33_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_33_patient_1.json new file mode 100644 index 000000000..fc583c26f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_33_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_33", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607239", + "label": "Deafness, autosomal recessive 33" + } + } + ], + "metaData": { + "created": "2024-06-12T02:16:30.837157Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_35_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_35_patient_1.json new file mode 100644 index 000000000..bbd4edcbd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_35_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_35", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608565", + "label": "Deafness, autosomal recessive 35" + } + } + ], + "metaData": { + "created": "2024-06-11T20:40:14.139242Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_36_with_or_without_vestibular_involvement_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_36_with_or_without_vestibular_involvement_patient_1.json new file mode 100644 index 000000000..153f974dd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_36_with_or_without_vestibular_involvement_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": 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"https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_37_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_37_patient_1.json new file mode 100644 index 000000000..ba3984c33 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_37_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "deafness,_autosomal_recessive_37", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000410", + "label": "Mixed hearing impairment" + }, + "modifiers": [ + { + "id": "HP:0012832", + "label": "Bilateral" + } + ], + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:4000032", + "label": "False perception of self-motion" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607821", + "label": "Deafness, autosomal recessive 37" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:57.001202Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_44_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_44_patient_1.json new file mode 100644 index 000000000..cdf1bc2c9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_44_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_44", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000399", + "label": "Prelingual sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610154", + "label": "Deafness, autosomal recessive 44" + } + } + ], + "metaData": { + "created": "2024-06-11T23:51:43.215401Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_45_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_45_patient_1.json new file mode 100644 index 000000000..cda829496 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_45_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_45", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000399", + "label": "Prelingual sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612433", + "label": "Deafness, autosomal recessive 45" + } + } + ], + "metaData": { + "created": "2024-06-11T22:55:43.170181Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_48_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_48_patient_1.json new file mode 100644 index 000000000..21a47133e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_48_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_48", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001751", + "label": "Abnormal vestibular function" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609439", + "label": "Deafness, autosomal recessive 48" + } + } + ], + "metaData": { + "created": "2024-06-11T23:52:50.829388Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_49_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_49_patient_1.json new file mode 100644 index 000000000..2ed79ff9a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_49_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_49", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000399", + "label": "Prelingual sensorineural hearing impairment" + } + } + ], + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_4_with_enlarged_vestibular_aqueduct_patient_1.json new file mode 100644 index 000000000..b120ea339 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_4_with_enlarged_vestibular_aqueduct_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "deafness,_autosomal_recessive_4,_with_enlarged_vestibular_aqueduct", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600791", + "label": "Deafness, autosomal recessive 4, with enlarged vestibular aqueduct" + } + } + ], + "metaData": { + "created": "2024-06-11T23:19:37.429621Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_53_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_53_patient_1.json new file mode 100644 index 000000000..5b79e165a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_53_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_53", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609706", + "label": "Deafness, autosomal recessive 53" + } + } + ], + "metaData": { + "created": "2024-06-11T22:26:11.585438Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_55_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_55_patient_1.json new file mode 100644 index 000000000..2259a3008 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_55_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "deafness,_autosomal_recessive_55", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_57_patient_1.json new file mode 100644 index 000000000..293866317 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_57_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "deafness,_autosomal_recessive_57", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618003", + "label": "Deafness, autosomal recessive 57" + } + } + ], + "metaData": { + "created": 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+1,45 @@ +{ + "id": "deafness,_autosomal_recessive_59", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610220", + "label": "Deafness, autosomal recessive 59" + } + } + ], + "metaData": { + "created": "2024-06-12T01:24:12.216476Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_61_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_61_patient_1.json new file mode 100644 index 000000000..0567f48fc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_61_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "deafness,_autosomal_recessive_61", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613865", + "label": "Deafness, autosomal recessive 61" + } + } + ], + "metaData": { + "created": "2024-06-11T18:53:58.675861Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_63_patient_1.json new file mode 100644 index 000000000..24e719e8b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_63_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "deafness,_autosomal_recessive_63", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008527", + "label": "Congenital sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611451", + "label": "Deafness, autosomal recessive 63" + } + } + ], + "metaData": { + "created": "2024-06-11T18:50:04.485118Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_66_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "deafness,_autosomal_recessive_66", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "modifiers": [ + { + "id": "HP:0012829", + "label": "Profound" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610212", + "label": "Deafness, autosomal recessive 66" + } + } + ], + "metaData": { + "created": "2024-06-11T18:21:58.142636Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_67_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_67_patient_1.json new file mode 100644 index 000000000..103e9f3e0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_67_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "deafness,_autosomal_recessive_67", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008619", + "label": "Bilateral sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0008619", + "label": "Bilateral sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610265", + "label": "Deafness, autosomal recessive 67" + } + } + ], + "metaData": { + "created": "2024-06-11T20:02:54.411660Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_68_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_68_patient_1.json new file mode 100644 index 000000000..0637f2eb8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_68_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_68", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610419", + "label": "Deafness, autosomal recessive 68" + } + } + ], + "metaData": { + "created": "2024-06-11T23:30:39.763178Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_6_patient_1.json new file mode 100644 index 000000000..8b2ce23cb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_6_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "deafness,_autosomal_recessive_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": 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new file mode 100644 index 000000000..8fc6b995d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_70_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "deafness,_autosomal_recessive_70", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + }, + "modifiers": [ + { + "id": "HP:0012832", + "label": "Bilateral" + } + ], + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614934", + "label": "Deafness, autosomal recessive 70" + } + } + ], + "metaData": { + "created": "2024-06-11T18:18:33.050936Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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000000000..169453f70 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_74_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_74", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613718", + "label": "Deafness, autosomal recessive 74" + } + } + ], + "metaData": { + "created": "2024-06-11T17:58:52.560101Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_76_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_76_patient_1.json new file mode 100644 index 000000000..a56fbe2fb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_76_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_76", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000408", + "label": "Progressive sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615540", + "label": "Deafness, autosomal recessive 76" + } + } + ], + "metaData": { + "created": "2024-06-11T18:32:35.062621Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_79_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_79_patient_1.json new file mode 100644 index 000000000..ffcc7cb7c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_79_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "deafness,_autosomal_recessive_79", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000408", + "label": "Progressive sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613307", + "label": "Deafness, autosomal recessive 79" + } + } + ], + "metaData": { + "created": "2024-06-11T23:52:17.588983Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_84B_patient_1.json new file mode 100644 index 000000000..c419c95db --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_84B_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_84b", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614944", + "label": "Deafness, autosomal recessive 84B" + } + } + ], + "metaData": { + "created": "2024-06-11T20:52:36.126402Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online 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+1,51 @@ +{ + "id": "deafness,_autosomal_recessive_85", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000399", + "label": "Prelingual sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613392", + "label": "Deafness, autosomal recessive 85" + } + } + ], + "metaData": { + "created": "2024-06-11T20:35:11.617099Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_86_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_86_patient_1.json new file mode 100644 index 000000000..ad68aa5a4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_86_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_86", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614617", + "label": "Deafness, autosomal recessive 86" + } + } + ], + "metaData": { + "created": "2024-06-11T21:01:30.554177Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000410", + "label": "Mixed hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615429", + "label": "Deafness, autosomal recessive 88" + } + } + ], + "metaData": { + "created": "2024-06-11T23:40:02.977717Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_89_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_89_patient_1.json new file mode 100644 index 000000000..536f96f62 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_89_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_89", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613916", + "label": "Deafness, autosomal recessive 89" + } + } + ], + "metaData": { + "created": "2024-06-11T17:54:53.605387Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_8_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_8_10_patient_1.json new file mode 100644 index 000000000..827ce3331 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_8_10_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_8/10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601072", + "label": "Deafness, autosomal recessive 8/10" + } + } + ], + "metaData": { + "created": "2024-06-12T02:21:21.996592Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_91_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_91_patient_1.json new file mode 100644 index 000000000..eb9c8a24c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_91_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_91", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001730", + "label": "Progressive hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613453", + "label": "Deafness, autosomal recessive 91" + } + } + ], + "metaData": { + "created": "2024-06-11T17:46:24.468795Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_93_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_93_patient_1.json new file mode 100644 index 000000000..1fe06ba4c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_93_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_93", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614899", + "label": "Deafness, autosomal recessive 93" + } + } + ], + "metaData": { + "created": "2024-06-12T02:24:24.652567Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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+ "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_96_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_96_patient_1.json new file mode 100644 index 000000000..2b1475c2e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_96_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_autosomal_recessive_96", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614414", + "label": "Deafness, autosomal recessive 96" + } + } + ], + "metaData": { + "created": "2024-06-11T20:43:16.596852Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_98_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_98_patient_1.json new file mode 100644 index 000000000..2e52d2851 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_98_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "deafness,_autosomal_recessive_98", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "modifiers": [ + { + "id": "HP:0012829", + "label": "Profound" + } + ], + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614861", + "label": "Deafness, autosomal recessive 98" + } + } + ], + "metaData": { + "created": "2024-06-11T23:09:40.209114Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_9_patient_1.json new file mode 100644 index 000000000..1f590d656 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_autosomal_recessive_9_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "deafness,_autosomal_recessive_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601071", + "label": "Deafness, autosomal recessive 9" + } + } + ], + "metaData": { + "created": "2024-06-11T23:52:04.071317Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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100644 index 000000000..1d88d6ba4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_cataract_retinitis_pigmentosa_and_sperm_abnormalities_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_cataract,_retinitis_pigmentosa,_and_sperm_abnormalities", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300719", + "label": "Deafness, cataract, retinitis pigmentosa, and sperm abnormalities" + } + } + ], + "metaData": { + "created": "2024-06-11T19:37:52.766849Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_conductive_with_ptosis_and_skeletal_anomalies_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "deafness,_conductive,_with_ptosis_and_skeletal_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004209", + "label": "Clinodactyly of the 5th finger" + } + }, + { + "type": { + "id": "HP:0000968", + "label": "Ectodermal dysplasia" + } + }, + { + "type": { + "id": "HP:0000413", + "label": "Atresia of the external auditory canal" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:221320", + "label": "Deafness, conductive, with ptosis and skeletal anomalies" + } + } + ], + "metaData": { + "created": "2024-06-11T22:39:54.104611Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_congenital_and_onychodystrophy_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_congenital_and_onychodystrophy_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..0ad565fb4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_congenital_and_onychodystrophy_autosomal_dominant_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "deafness,_congenital,_and_onychodystrophy,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001802", + "label": "Absent toenail" + } + }, + { + "type": { + "id": "HP:0000348", + "label": "High forehead" + } + }, + { + "type": { + "id": "HP:0001770", + "label": "Toe syndactyly" + } + }, + { + "type": { + "id": "HP:0005707", + "label": "Bilateral triphalangeal thumbs" + } + }, + { + "type": { + "id": "HP:0009162", + "label": "Absent middle phalanx of 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_congenital_heart_defects_and_posterior_embryotoxon_patient_1.json new file mode 100644 index 000000000..31e453922 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_congenital_heart_defects_and_posterior_embryotoxon_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_congenital_heart_defects,_and_posterior_embryotoxon", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000627", + "label": "Posterior embryotoxon" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617992", + "label": "Deafness, congenital heart defects, and posterior embryotoxon" + } + } + ], + "metaData": { + "created": "2024-06-11T23:23:39.413077Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_congenital_neurosensory_autosomal_recessive_39_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_congenital_neurosensory_autosomal_recessive_39_patient_1.json new file mode 100644 index 000000000..b08f705a3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_congenital_neurosensory_autosomal_recessive_39_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_congenital_neurosensory,_autosomal_recessive_39", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000399", + "label": "Prelingual sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608265", + "label": "Deafness, congenital neurosensory, autosomal recessive 39" + } + } + ], + "metaData": { + "created": "2024-06-11T17:43:17.455338Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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"deafness,_congenital_neurosensory,_autosomal_recessive_40", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000399", + "label": "Prelingual sensorineural hearing impairment" + }, + "modifiers": [ + { + "id": "HP:0012829", + "label": "Profound" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608264", + "label": "Deafness, congenital neurosensory, autosomal recessive 40" + } + } + ], + "metaData": { + "created": "2024-06-11T18:07:43.044748Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_congenital_with_inner_ear_agenesis_microtia_and_microdontia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_congenital_with_inner_ear_agenesis_microtia_and_microdontia_patient_1.json new file mode 100644 index 000000000..30c460798 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_congenital_with_inner_ear_agenesis_microtia_and_microdontia_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "deafness,_congenital,_with_inner_ear_agenesis,_microtia,_and_microdontia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000276", + "label": "Long face" + } + }, + { + "type": { + "id": "HP:0002194", + "label": "Delayed gross motor development" + } + }, + { + "type": { + "id": "HP:6000376", + "label": "Jugular foramen stenosis" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0001593", + "label": "Maxillary lateral incisor microdontia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610706", + "label": "Deafness, congenital, with inner ear agenesis, microtia, and microdontia" + } + } + ], + "metaData": { + "created": "2024-06-11T20:47:45.306712Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_congenital_with_total_albinism_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_congenital_with_total_albinism_patient_1.json new file mode 100644 index 000000000..537a54068 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_congenital_with_total_albinism_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "deafness,_congenital,_with_total_albinism", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000135", + "label": "Hypogonadism" + } + }, + { + "type": { + "id": "HP:0001022", + "label": "Albinism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:220900", + "label": "Deafness, congenital, with total albinism" + } + } + ], + "metaData": { + "created": "2024-06-11T18:57:55.531762Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_congenital_with_vitiligo_and_achalasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_congenital_with_vitiligo_and_achalasia_patient_1.json new file mode 100644 index 000000000..911852916 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_congenital_with_vitiligo_and_achalasia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_congenital,_with_vitiligo_and_achalasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002571", + "label": "Achalasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:221350", + "label": "Deafness, congenital, with vitiligo and achalasia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:32.521592Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_dystonia_and_cerebral_hypomyelination_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_dystonia_and_cerebral_hypomyelination_patient_1.json new file mode 100644 index 000000000..00ba42b94 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_dystonia_and_cerebral_hypomyelination_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "deafness,_dystonia,_and_cerebral_hypomyelination", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008883", + "label": "Mild intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0012447", + "label": "Abnormal myelination" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0010875", + "label": "Chaddock reflex" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300475", + "label": "Deafness, dystonia, and cerebral hypomyelination" + } + } + ], + "metaData": { + "created": "2024-06-11T21:52:52.820217Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_mid_tone_neural_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_mid_tone_neural_patient_1.json new file mode 100644 index 000000000..e09bc3985 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_mid_tone_neural_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_mid-tone_neural", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001730", + "label": "Progressive hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:124700", + "label": "Deafness, mid-tone neural" + } + } + ], + "metaData": { + "created": "2024-06-11T18:02:14.748045Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_nerve_type_with_mesenteric_diverticula_of_small_bowel_andprogressive_sensory_neuropathy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_nerve_type_with_mesenteric_diverticula_of_small_bowel_andprogressive_sensory_neuropathy_patient_1.json new file mode 100644 index 000000000..e6bf11854 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_nerve_type_with_mesenteric_diverticula_of_small_bowel_andprogressive_sensory_neuropathy_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "deafness,_nerve_type,_with_mesenteric_diverticula_of_small_bowel_andprogressive_sensory_neuropathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005229", + "label": "Jejunoileal ulceration" + } + }, + { + "type": { + "id": "HP:0025033", + "label": "Abnormal digestive system morphology" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:221400", + "label": "Deafness, nerve type, with mesenteric diverticula of small bowel andprogressive sensory neuropathy" + } + } + ], + "metaData": { + "created": "2024-06-11T17:43:40.759969Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_neural_congenital_moderate_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_neural_congenital_moderate_patient_1.json new file mode 100644 index 000000000..51da30f0a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_neural_congenital_moderate_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "deafness,_neural,_congenital_moderate", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:221500", + "label": "Deafness, neural, congenital moderate" + } + } + ], + "metaData": { + "created": "2024-06-11T19:57:55.614469Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_neurosensory_autosomal_recessive_18_patient_1.json new file mode 100644 index 000000000..60066b1d9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_neurosensory_autosomal_recessive_18_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_neurosensory,_autosomal_recessive_18", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602092", + "label": "Deafness, neurosensory, autosomal recessive 18" + } + } + ], + "metaData": { + "created": "2024-06-11T21:23:46.150238Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_neurosensory_autosomal_recessive_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_neurosensory_autosomal_recessive_2_patient_1.json new file mode 100644 index 000000000..bb7c465f3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_neurosensory_autosomal_recessive_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_neurosensory,_autosomal_recessive_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600060", + "label": "Deafness, neurosensory, autosomal recessive 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:32:03.237884Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_neurosensory_autosomal_recessive_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_neurosensory_autosomal_recessive_3_patient_1.json new file mode 100644 index 000000000..7b03f6e69 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_neurosensory_autosomal_recessive_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "deafness,_neurosensory,_autosomal_recessive_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011476", + "label": "Profound sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600316", + "label": "Deafness, neurosensory, autosomal recessive 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:25:51.161833Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_neurosensory_autosomal_recessive_42_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_neurosensory_autosomal_recessive_42_patient_1.json new file mode 100644 index 000000000..0b83239f0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_neurosensory_autosomal_recessive_42_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_neurosensory,_autosomal_recessive_42", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609646", + "label": "Deafness, neurosensory, autosomal recessive 42" + } + } + ], + "metaData": { + "created": "2024-06-11T21:01:23.058977Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_neurosensory_autosomal_recessive_46_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_neurosensory_autosomal_recessive_46_patient_1.json new file mode 100644 index 000000000..2b8f3b334 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_neurosensory_autosomal_recessive_46_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "deafness,_neurosensory,_autosomal_recessive_46", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011476", + "label": "Profound sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609647", + "label": "Deafness, neurosensory, autosomal recessive 46" + } + } + ], + "metaData": { + "created": "2024-06-11T20:41:09.939068Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_neurosensory_autosomal_recessive_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_neurosensory_autosomal_recessive_5_patient_1.json new file mode 100644 index 000000000..1be67b1ff --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_neurosensory_autosomal_recessive_5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_neurosensory,_autosomal_recessive_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600792", + "label": "Deafness, neurosensory, autosomal recessive 5" + } + } + ], + "metaData": { + "created": "2024-06-11T22:54:36.133850Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_neurosensory_autosomal_recessive_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_neurosensory_autosomal_recessive_7_patient_1.json new file mode 100644 index 000000000..a555d8546 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_neurosensory_autosomal_recessive_7_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_neurosensory,_autosomal_recessive_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600974", + "label": "Deafness, neurosensory, autosomal recessive 7" + } + } + ], + "metaData": { + "created": "2024-06-11T23:17:23.837523Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_progressive_with_stapes_fixation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_progressive_with_stapes_fixation_patient_1.json new file mode 100644 index 000000000..773fb4d51 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_progressive_with_stapes_fixation_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_progressive,_with_stapes_fixation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000381", + "label": "Stapes ankylosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601449", + "label": "Deafness, progressive, with stapes fixation" + } + } + ], + "metaData": { + "created": "2024-06-11T23:43:51.873773Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_sensorineural_Autosomal_Mitochondrial_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_sensorineural_Autosomal_Mitochondrial_type_patient_1.json new file mode 100644 index 000000000..cf0eb627b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_sensorineural_Autosomal_Mitochondrial_type_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_sensorineural,_autosomal-mitochondrial_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000408", + "label": "Progressive sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:221745", + "label": "Deafness, sensorineural, Autosomal-Mitochondrial type" + } + } + ], + "metaData": { + "created": "2024-06-11T23:36:56.841484Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_sensorineural_and_male_infertility_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_sensorineural_and_male_infertility_patient_1.json new file mode 100644 index 000000000..369f68ee4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_sensorineural_and_male_infertility_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "deafness,_sensorineural,_and_male_infertility", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P25Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012868", + "label": "Abnormal sperm tail morphology" + } + }, + { + "type": { + "id": "HP:0012874", + "label": "Abnormal male reproductive system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611102", + "label": "Deafness, sensorineural, and male infertility" + } + } + ], + "metaData": { + "created": "2024-06-12T01:06:41.971896Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_sensorineural_with_peripheral_neuropathy_and_arterial_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_sensorineural_with_peripheral_neuropathy_and_arterial_disease_patient_1.json new file mode 100644 index 000000000..b52d4df8e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_sensorineural_with_peripheral_neuropathy_and_arterial_disease_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "deafness,_sensorineural,_with_peripheral_neuropathy_and_arterial_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012318", + "label": "Occipital neuralgia" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0040325", + "label": "Bull's eye rash" + } + }, + { + "type": { + "id": "HP:0001085", + "label": "Papilledema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:124950", + "label": "Deafness, sensorineural, with peripheral neuropathy and arterial disease" + } + } + ], + "metaData": { + "created": "2024-06-11T19:42:37.550488Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_sensorineural_with_pituitary_dwarfism_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_sensorineural_with_pituitary_dwarfism_patient_1.json new file mode 100644 index 000000000..3ddee6994 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_sensorineural_with_pituitary_dwarfism_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "deafness,_sensorineural,_with_pituitary_dwarfism", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0000830", + "label": "Anterior hypopituitarism" + } + }, + { + "type": { + "id": "HP:0008240", + "label": "Secondary growth hormone deficiency" + } + }, + { + "type": { + "id": "HP:0008202", + "label": "Reduced circulating prolactin concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:221750", + "label": "Deafness, sensorineural, with pituitary dwarfism" + } + } + ], + "metaData": { + "created": "2024-06-11T23:48:15.520113Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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000000000..b6d149c58 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_unilateral_with_delayed_endolymphatic_hydrops_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness,_unilateral,_with_delayed_endolymphatic_hydrops", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009900", + "label": "Unilateral deafness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612097", + "label": "Deafness, unilateral, with delayed endolymphatic hydrops" + } + } + ], + "metaData": { + "created": "2024-06-11T21:20:54.233248Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_with_anhidrotic_ectodermal_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_with_anhidrotic_ectodermal_dysplasia_patient_1.json new file mode 100644 index 000000000..c3b826127 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deafness_with_anhidrotic_ectodermal_dysplasia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deafness_with_anhidrotic_ectodermal_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007476", + "label": "Anhidrotic ectodermal dysplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125050", + "label": "Deafness with anhidrotic ectodermal dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T19:33:58.627409Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deeah_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deeah_syndrome_patient_1.json new file mode 100644 index 000000000..9f6c6407b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deeah_syndrome_patient_1.json @@ -0,0 +1,291 @@ +{ + "id": "deeah_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002028", + "label": "Chronic diarrhea" + } + }, + { + "type": { + "id": "HP:0000824", + "label": "Decreased response to growth hormone stimulation test" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0010557", + "label": "Overlapping fingers" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0020062", + "label": "Decreased hemoglobin concentration" + } + }, + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0001738", + "label": "Exocrine pancreatic insufficiency" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0000054", + "label": "Micropenis" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dementia_familial_danish_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "dementia,_familial_danish", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:117300", + "label": "Dementia, familial danish" + } + } + ], + "metaData": { + "created": "2024-06-11T23:02:58.574571Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dementia_parkinsonism_with_non_alzheimer_amyloid_plaques_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "dementia/parkinsonism_with_non-alzheimer_amyloid_plaques", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000726", + "label": "Dementia" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125320", + "label": "Dementia/parkinsonism with non-alzheimer amyloid plaques" + } + } + ], + "metaData": { + "created": "2024-06-11T20:21:03.017218Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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"HP:0000787", + "label": "Nephrolithiasis" + } + }, + { + "type": { + "id": "HP:0012622", + "label": "Chronic kidney disease" + } + }, + { + "type": { + "id": "HP:0002752", + "label": "Sparse bone trabeculae" + } + }, + { + "type": { + "id": "HP:0003126", + "label": "Low-molecular-weight proteinuria" + } + }, + { + "type": { + "id": "HP:0002980", + "label": "Femoral bowing" + } + }, + { + "type": { + "id": "HP:0002150", + "label": "Hypercalciuria" + } + }, + { + "type": { + "id": "HP:0002148", + "label": "Hypophosphatemia" + } + }, + { + "type": { + "id": "HP:0000083", + "label": "Renal insufficiency" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300009", + "label": "Dent disease 1" + } + } + ], + "metaData": { + "created": "2024-06-11T17:52:11.093549Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dent_disease_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dent_disease_2_patient_1.json new file mode 100644 index 000000000..f6ca1442e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dent_disease_2_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "dent_disease_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011342", + "label": "Mild global developmental delay" + } + }, + { + "type": { + "id": "HP:0005574", + "label": "Non-acidotic proximal tubulopathy" + } + }, + { + "type": { + "id": "HP:0030234", + "label": "Highly elevated creatine kinase" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300555", + "label": "Dent disease 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:11:25.494415Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dental_anomalies_and_short_stature_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dental_anomalies_and_short_stature_patient_1.json new file mode 100644 index 000000000..9e56ebd24 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dental_anomalies_and_short_stature_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "dental_anomalies_and_short_stature", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0000705", + "label": "Amelogenesis imperfecta" + } + }, + { + "type": { + "id": "HP:0005108", + "label": "Abnormal intervertebral disk morphology" + } + }, + { + "type": { + "id": "HP:0008470", + "label": "Lower thoracic interpediculate narrowness" + } + }, + { + "type": { + "id": "HP:0000839", + "label": "Pituitary dwarfism" + } + }, + { + "type": { + "id": "HP:0001633", + "label": "Abnormal mitral valve morphology" + } + }, + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + }, + { + "type": { + "id": "HP:0006483", + "label": "Abnormal number of teeth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601216", + "label": "Dental anomalies and short stature" + } + } + ], + "metaData": { + "created": "2024-06-11T21:25:24.979381Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dental_noneruption_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dental_noneruption_patient_1.json new file mode 100644 index 000000000..e5d149d74 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dental_noneruption_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dental_noneruption", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006335", + "label": "Persistence of primary teeth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125350", + "label": "Dental noneruption" + } + } + ], + "metaData": { + "created": "2024-06-11T18:03:12.731213Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dentatorubral_pallidoluysian_atrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dentatorubral_pallidoluysian_atrophy_patient_1.json new file mode 100644 index 000000000..88b3eaf77 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dentatorubral_pallidoluysian_atrophy_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "dentatorubral-pallidoluysian_atrophy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007098", + "label": "Paroxysmal choreoathetosis" + } + }, + { + "type": { + "id": "HP:0002268", + "label": "Paroxysmal dystonia" + } + }, + { + "type": { + "id": "HP:0002172", + "label": "Postural instability" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125370", + "label": "Dentatorubral-pallidoluysian atrophy" + } + } + ], + "metaData": { + "created": "2024-06-11T22:45:59.718648Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dentici_Novelli_neurodevelopmental_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dentici_Novelli_neurodevelopmental_syndrome_patient_1.json new file mode 100644 index 000000000..4d832c78a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dentici_Novelli_neurodevelopmental_syndrome_patient_1.json @@ -0,0 +1,147 @@ +{ + "id": "dentici-novelli_neurodevelopmental_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008936", + "label": "Axial hypotonia" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0002265", + "label": "Large fleshy ears" + } + }, + { + "type": { + "id": "HP:0000340", + "label": "Sloping forehead" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0006895", + "label": "Lower limb hypertonia" + } + }, + { + "type": { + "id": "HP:0001118", + "label": "Juvenile cataract" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0200006", + "label": "Slanting of the palpebral fissure" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0000307", + "label": "Pointed chin" + } + }, + { + "type": { + "id": "HP:0002521", + "label": "Hypsarrhythmia" + } + }, + { + "type": { + "id": "HP:0100547", + "label": "Abnormal forebrain morphology" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0002538", + "label": "Abnormal cerebral cortex morphology" + } + }, + { + "type": { + "id": "HP:0002421", + "label": "Poor head control" + } + }, + { + "type": { + "id": "HP:0005484", + "label": "Secondary microcephaly" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619877", + "label": "Dentici-Novelli neurodevelopmental syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:52:14.560390Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dentin_dysplasia_type_II_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dentin_dysplasia_type_II_patient_1.json new file mode 100644 index 000000000..591833923 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dentin_dysplasia_type_II_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dentin_dysplasia,_type_ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003771", + "label": "Pulp calcification" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125420", + "label": "Dentin dysplasia, type II" + } + } + ], + "metaData": { + "created": "2024-06-11T18:12:52.248764Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dentin_dysplasia_type_I_with_microdontia_and_misshapen_teeth_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dentin_dysplasia_type_I_with_microdontia_and_misshapen_teeth_patient_1.json new file mode 100644 index 000000000..152b38f07 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dentin_dysplasia_type_I_with_microdontia_and_misshapen_teeth_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "dentin_dysplasia,_type_i,_with_microdontia_and_misshapen_teeth", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000679", + "label": "Taurodontia" + } + }, + { + "type": { + "id": "HP:0006483", + "label": "Abnormal number of teeth" + } + }, + { + "type": { + "id": "HP:0006482", + "label": "Abnormal dental morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125400", + "label": "Dentin dysplasia, type I, with microdontia and misshapen teeth" + } + } + ], + "metaData": { + "created": "2024-06-11T23:25:14.287297Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dentin_dysplasia_with_sclerotic_bones_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dentin_dysplasia_with_sclerotic_bones_patient_1.json new file mode 100644 index 000000000..5e5774703 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dentin_dysplasia_with_sclerotic_bones_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dentin_dysplasia_with_sclerotic_bones", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005652", + "label": "Cortical sclerosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125440", + "label": "Dentin dysplasia with sclerotic bones" + } + } + ], + "metaData": { + "created": "2024-06-11T19:27:04.207836Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dentinogenesis_imperfecta_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dentinogenesis_imperfecta_1_patient_1.json new file mode 100644 index 000000000..13316ba14 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dentinogenesis_imperfecta_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dentinogenesis_imperfecta_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006286", + "label": "Yellow-brown discoloration of the teeth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125490", + "label": "Dentinogenesis imperfecta 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:35:49.670224Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dentinogenesis_imperfecta_shields_type_III_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dentinogenesis_imperfecta_shields_type_III_patient_1.json new file mode 100644 index 000000000..ab1d3a967 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dentinogenesis_imperfecta_shields_type_III_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dentinogenesis_imperfecta,_shields_type_iii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009722", + "label": "Dental enamel pits" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125500", + "label": "Dentinogenesis imperfecta, shields type III" + } + } + ], + "metaData": { + "created": "2024-06-11T21:18:07.276730Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Denys_Drash_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Denys_Drash_syndrome_patient_1.json new file mode 100644 index 000000000..2943d97da --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Denys_Drash_syndrome_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "denys-drash_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000112", + "label": "Nephropathy" + } + }, + { + "type": { + "id": "HP:0000100", + "label": "Nephrotic syndrome" + } + }, + { + "type": { + "id": "HP:0001153", + "label": "Septate vagina" + } + }, + { + "type": { + "id": "HP:0000260", + "label": "Wide anterior fontanel" + } + }, + { + "type": { + "id": "HP:0001967", + "label": "Diffuse mesangial sclerosis" + } + }, + { + "type": { + "id": "HP:0000037", + "label": "Male pseudohermaphroditism" + } + }, + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + } + }, + { + "type": { + "id": "HP:0002643", + "label": "Neonatal respiratory distress" + } + }, + { + "type": { + "id": "HP:0003248", + "label": "Gonadal tissue inappropriate for external genitalia or chromosomal sex" + } + }, + { + "type": { + "id": "HP:0003762", + "label": "Uterus didelphys" + } + }, + { + "type": { + "id": "HP:0000097", + "label": "Focal segmental glomerulosclerosis" + } + }, + { + "type": { + "id": "HP:0000812", + "label": "Abnormal internal genitalia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:194080", + "label": "Denys-Drash syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:07:56.407321Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Deoxyribose_5_Phosphate_aldolase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deoxyribose_5_Phosphate_aldolase_deficiency_patient_1.json new file mode 100644 index 000000000..ebabb6fef --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Deoxyribose_5_Phosphate_aldolase_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "deoxyribose-5-phosphate_aldolase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012379", + "label": "Abnormal circulating enzyme concentration or activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125460", + "label": "Deoxyribose-5-Phosphate aldolase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T21:20:40.770857Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermal_ridges_nelson_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermal_ridges_nelson_syndrome_patient_1.json new file mode 100644 index 000000000..50c7bf344 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermal_ridges_nelson_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dermal_ridges,_nelson_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007477", + "label": "Abnormal dermatoglyphics" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125530", + "label": "Dermal ridges, nelson syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:54:36.321544Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermal_ridges_patternless_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermal_ridges_patternless_patient_1.json new file mode 100644 index 000000000..9bd059190 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermal_ridges_patternless_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dermal_ridges,_patternless", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000951", + "label": "Abnormality of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125540", + "label": "Dermal ridges, patternless" + } + } + ], + "metaData": { + "created": "2024-06-11T18:15:19.345006Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermatitis_atopic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermatitis_atopic_patient_1.json new file mode 100644 index 000000000..7da41f6f5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermatitis_atopic_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "dermatitis,_atopic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031291", + "label": "Ichthyosis follicularis" + } + }, + { + "type": { + "id": "HP:0012337", + "label": "Abnormal homeostasis" + } + }, + { + "type": { + "id": "HP:0012652", + "label": "Exercise-induced asthma" + } + }, + { + "type": { + "id": "HP:0030898", + "label": "Pruritis on abdomen" + } + }, + { + "type": { + "id": "HP:0001041", + "label": "Facial erythema" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + }, + { + "type": { + "id": "HP:0001051", + "label": "Seborrheic dermatitis" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0007453", + "label": "Flexural lichenification" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603165", + "label": "Dermatitis, atopic" + } + } + ], + "metaData": { + "created": "2024-06-11T21:21:43.603223Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermatitis_herpetiformis_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermatitis_herpetiformis_familial_patient_1.json new file mode 100644 index 000000000..be873c7b9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermatitis_herpetiformis_familial_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dermatitis_herpetiformis,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000989", + "label": "Pruritus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601230", + "label": "Dermatitis herpetiformis, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T20:13:48.668622Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermatopathia_pigmentosa_reticularis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermatopathia_pigmentosa_reticularis_patient_1.json new file mode 100644 index 000000000..915a05b4d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermatopathia_pigmentosa_reticularis_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "dermatopathia_pigmentosa_reticularis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0005588", + "label": "Patchy palmoplantar hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0007588", + "label": "Reticular hyperpigmentation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125595", + "label": "Dermatopathia pigmentosa reticularis" + } + } + ], + "metaData": { + "created": "2024-06-11T18:01:16.248762Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermatosis_papulosa_nigra_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermatosis_papulosa_nigra_patient_1.json new file mode 100644 index 000000000..5c1c0bb86 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermatosis_papulosa_nigra_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dermatosis_papulosa_nigra", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000951", + "label": "Abnormality of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125600", + "label": "Dermatosis papulosa nigra" + } + } + ], + "metaData": { + "created": "2024-06-11T22:42:42.423339Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermochondrocorneal_dystrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermochondrocorneal_dystrophy_patient_1.json new file mode 100644 index 000000000..eb391ff61 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermochondrocorneal_dystrophy_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "dermochondrocorneal_dystrophy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000212", + "label": "Gingival overgrowth" + } + }, + { + "type": { + "id": "HP:0008134", + "label": "Irregular tarsal ossification" + } + }, + { + "type": { + "id": "HP:0001131", + "label": "Corneal dystrophy" + } + }, + { + "type": { + "id": "HP:0007576", + "label": "Palmar neurofibroma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:221800", + "label": "Dermochondrocorneal dystrophy" + } + } + ], + "metaData": { + "created": "2024-06-12T02:17:43.397457Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermodistortive_urticaria_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermodistortive_urticaria_patient_1.json new file mode 100644 index 000000000..ae86a0f42 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermodistortive_urticaria_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dermodistortive_urticaria", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001041", + "label": "Facial erythema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125630", + "label": "Dermodistortive urticaria" + } + } + ], + "metaData": { + "created": "2024-06-11T18:58:23.882607Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermoids_of_cornea_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermoids_of_cornea_patient_1.json new file mode 100644 index 000000000..e66e2eab0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dermoids_of_cornea_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dermoids_of_cornea", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007957", + "label": "Corneal opacity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:304730", + "label": "Dermoids of cornea" + } + } + ], + "metaData": { + "created": "2024-06-11T18:44:26.934669Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Desanto_Shinawi_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Desanto_Shinawi_syndrome_patient_1.json new file mode 100644 index 000000000..283ca8c0e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Desanto_Shinawi_syndrome_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "desanto-shinawi_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0002714", + "label": "Downturned corners of mouth" + } + }, + { + "type": { + "id": "HP:0003186", + "label": "Inverted nipples" + } + }, + { + "type": { + "id": "HP:0000534", + "label": "Abnormal eyebrow morphology" + } + }, + { + "type": { + "id": "HP:0000309", + "label": "Abnormal midface morphology" + } + }, + { + "type": { + "id": "HP:0000664", + "label": "Synophrys" + } + }, + { + "type": { + "id": "HP:0012758", + "label": "Neurodevelopmental delay" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0000337", + "label": "Broad forehead" + } + }, + { + "type": { + "id": "HP:0000414", + "label": "Bulbous nose" + } + }, + { + "type": { + "id": "HP:0002265", + "label": "Large fleshy ears" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616708", + "label": "Desanto-Shinawi syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:41:33.495565Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Desbuquois_dysplasia_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Desbuquois_dysplasia_1_patient_1.json new file mode 100644 index 000000000..501a94ee6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Desbuquois_dysplasia_1_patient_1.json @@ -0,0 +1,176 @@ +{ + "id": "desbuquois_dysplasia_1", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P81Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000311", + "label": "Round face" + } + }, + { + "type": { + "id": "HP:0009116", + "label": "Aplasia/Hypoplasia involving bones of the skull" + } + }, + { + "type": { + "id": "HP:0000272", + "label": "Malar flattening" + } + }, + { + "type": { + "id": "HP:0011842", + 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+} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Developmental_delay_with_hypotonia_myopathy_and_brain_abnormalities_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Developmental_delay_with_hypotonia_myopathy_and_brain_abnormalities_patient_1.json new file mode 100644 index 000000000..df081f515 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Developmental_delay_with_hypotonia_myopathy_and_brain_abnormalities_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "developmental_delay_with_hypotonia,_myopathy,_and_brain_abnormalities", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000248", + "label": "Brachycephaly" + } + }, + { + "type": { + "id": "HP:0007359", + "label": "Focal-onset seizure" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0002120", + "label": "Cerebral cortical atrophy" + } + }, + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Developmental_delay_with_short_stature_dysmorphic_facial_features_and_sparse_hair_2_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "developmental_delay_with_short_stature,_dysmorphic_facial_features,_and_sparse_hair_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012413", + "label": "Notched primary central incisor" + } + }, + { + "type": { + "id": "HP:0040195", + "label": "Decreased head circumference" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0010862", + "label": "Delayed fine motor development" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620062", + "label": "Developmental delay with short stature, dysmorphic facial features, and sparse hair 2" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Developmental_delay_with_short_stature_dysmorphic_features_and_sparse_hair_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "developmental_delay_with_short_stature,_dysmorphic_features,_and_sparse_hair", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002209", + "label": "Sparse scalp hair" + } + }, + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0011343", + "label": "Moderate global developmental delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616901", + "label": "Developmental delay with short stature, dysmorphic features, and sparse hair" + } + } + ], + "metaData": { + 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--- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_and_deafness_maternally_inherited_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "diabetes_and_deafness,_maternally_inherited", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0008555", + "label": "Absent vestibular function" + } + }, + { + "type": { + "id": "HP:0000597", + "label": "Ophthalmoparesis" + } + }, + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0000819", + "label": "Diabetes mellitus" + } + }, + { + "type": { + "id": "HP:0000580", + "label": "Pigmentary retinopathy" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + } + ], 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"diabetes_insipidus,_neurohypophyseal_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000445", + "label": "Wide nose" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0031429", + "label": "Decreased circulating osteocalcin level" + } + }, + { + "type": { + "id": "HP:0003196", + "label": "Short nose" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125700", + "label": "Diabetes insipidus, Neurohypophyseal type" + } + } + ], + "metaData": { + "created": "2024-06-11T21:38:53.216359Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_insipidus_nephrogenic_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_insipidus_nephrogenic_2_patient_1.json new file mode 100644 index 000000000..74a35ce1e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_insipidus_nephrogenic_2_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "diabetes_insipidus,_nephrogenic,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0001945", + "label": "Fever" + } + }, + { + "type": { + "id": "HP:0000839", + "label": "Pituitary dwarfism" + } + }, + { + "type": { + "id": "HP:0000103", + "label": "Polyuria" + } + }, + { + "type": { + "id": "HP:0100851", + "label": "Abnormal emotion" + } + }, + { + "type": { + "id": "HP:0001944", + "label": "Dehydration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125800", + "label": "Diabetes insipidus, nephrogenic, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:32:21.589539Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_insipidus_nephrogenic_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_insipidus_nephrogenic_X_linked_patient_1.json new file mode 100644 index 000000000..818a9e619 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_insipidus_nephrogenic_X_linked_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "diabetes_insipidus,_nephrogenic,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0001959", + "label": "Polydipsia" + } + }, + { + "type": { + "id": "HP:0001945", + "label": "Fever" + } + }, + { + "type": { + "id": "HP:0009806", + "label": "Nephrogenic diabetes insipidus" + } + }, + { + "type": { + "id": "HP:0010931", + "label": "Abnormal blood sodium concentration" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:304800", + "label": "Diabetes insipidus, nephrogenic, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T20:39:24.253734Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_insulin_dependent_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_insulin_dependent_10_patient_1.json new file mode 100644 index 000000000..2ac1892aa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_insulin_dependent_10_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "diabetes_mellitus,_insulin-dependent,_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000819", + "label": "Diabetes mellitus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601942", + "label": "Diabetes mellitus, insulin-dependent, 10" + } + } + ], + "metaData": { + "created": "2024-06-11T21:43:59.234071Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_insulin_dependent_15_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_insulin_dependent_15_patient_1.json new file mode 100644 index 000000000..243165c7d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_insulin_dependent_15_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "diabetes_mellitus,_insulin-dependent,_15", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000819", + "label": "Diabetes mellitus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601666", + "label": "Diabetes mellitus, insulin-dependent, 15" + } + } + ], + "metaData": { + "created": "2024-06-11T23:22:34.277838Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_insulin_dependent_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_insulin_dependent_1_patient_1.json new file mode 100644 index 000000000..be92232f3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_insulin_dependent_1_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "diabetes_mellitus,_insulin-dependent-1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0410050", + "label": "Decreased level of 1,5 anhydroglucitol in serum" + } + }, + { + "type": { + "id": "HP:0001946", + "label": "Ketosis" + } + }, + { + "type": { + "id": "HP:0025691", + "label": "Impaired fasting glucose" + } + }, + { + "type": { + "id": "HP:0008205", + "label": "Insulin-dependent but ketosis-resistant diabetes" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:222100", + "label": "Diabetes mellitus, insulin-dependent-1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:40:35.818497Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_insulin_dependent_20_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_insulin_dependent_20_patient_1.json new file mode 100644 index 000000000..43751662c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_insulin_dependent_20_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "diabetes_mellitus,_insulin-dependent,_20", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100651", + "label": "Type I diabetes mellitus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612520", + "label": "Diabetes mellitus, insulin-dependent, 20" + } + } + ], + "metaData": { + "created": "2024-06-11T22:17:20.851766Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_insulin_dependent_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_insulin_dependent_2_patient_1.json new file mode 100644 index 000000000..a598c6997 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_insulin_dependent_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "diabetes_mellitus,_insulin-dependent,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100651", + "label": "Type I diabetes mellitus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125852", + "label": "Diabetes mellitus, insulin-dependent, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:48:52.180005Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_insulin_dependent_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_insulin_dependent_6_patient_1.json new file mode 100644 index 000000000..84be5dc70 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_insulin_dependent_6_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "diabetes_mellitus,_insulin-dependent,_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000819", + "label": "Diabetes mellitus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601941", + "label": "Diabetes mellitus, insulin-dependent, 6" + } + } + ], + "metaData": { + "created": "2024-06-11T21:20:47.890650Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_ketosis_prone_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_ketosis_prone_patient_1.json new file mode 100644 index 000000000..bf05bc800 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_ketosis_prone_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "diabetes_mellitus,_ketosis-prone", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000855", + "label": "Insulin resistance" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612227", + "label": "Diabetes mellitus, ketosis-prone" + } + } + ], + "metaData": { + "created": "2024-06-11T23:55:02.211136Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_neonatal_with_congenital_hypothyroidism_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_neonatal_with_congenital_hypothyroidism_patient_1.json new file mode 100644 index 000000000..d0223ae76 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_neonatal_with_congenital_hypothyroidism_patient_1.json @@ -0,0 +1,159 @@ +{ + "id": "diabetes_mellitus,_neonatal,_with_congenital_hypothyroidism", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0000557", + "label": "Buphthalmos" + } + }, + { + "type": { + "id": "HP:0002036", + "label": "Hiatus hernia" + } + }, + { + "type": { + "id": "HP:0010876", + "label": "Abnormal circulating protein concentration" + } + }, + { + "type": { + "id": "HP:0007906", + "label": "Ocular hypertension" + } + }, + { + "type": { + "id": "HP:0000851", + "label": "Congenital hypothyroidism" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0025408", + "label": "Abnormal spleen morphology" + } + }, + { + "type": { + "id": "HP:0001405", + "label": "Periportal fibrosis" + } + }, + { + "type": { + "id": "HP:0003117", + "label": "Abnormal circulating hormone concentration" + } + }, + { + "type": { + "id": "HP:0000938", + "label": "Osteopenia" + } + }, + { + "type": { + "id": "HP:0032263", + "label": "Increased blood pressure" + } + }, + { + "type": { + "id": "HP:0001363", + "label": "Craniosynostosis" + } + }, + { + "type": { + "id": "HP:0001737", + "label": "Pancreatic cysts" + } + }, + { + "type": { + "id": "HP:0031507", + "label": "Decreased circulating T4 concentration" + } + }, + { + "type": { + "id": "HP:0001438", + "label": "Abnormal abdomen morphology" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0012337", + "label": "Abnormal homeostasis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610199", + "label": "Diabetes mellitus, neonatal, with congenital hypothyroidism" + } + } + ], + "metaData": { + "created": "2024-06-11T17:48:41.357973Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_noninsulin_dependent_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_noninsulin_dependent_patient_1.json new file mode 100644 index 000000000..ac8a690b6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_noninsulin_dependent_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "diabetes_mellitus,_noninsulin-dependent", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005978", + "label": "Type II diabetes mellitus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125853", + "label": "Diabetes mellitus, noninsulin-dependent" + } + } + ], + "metaData": { + "created": "2024-06-11T21:28:49.994013Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_permanent_neonatal_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_permanent_neonatal_1_patient_1.json new file mode 100644 index 000000000..93dd14c62 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_permanent_neonatal_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "diabetes_mellitus,_permanent_neonatal_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040217", + "label": "Elevated hemoglobin A1c" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606176", + "label": "Diabetes mellitus, permanent neonatal 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:53:41.647531Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_permanent_neonatal_3_with_or_without_neurologic_features_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_permanent_neonatal_3_with_or_without_neurologic_features_patient_1.json new file mode 100644 index 000000000..de9f3da8c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_permanent_neonatal_3_with_or_without_neurologic_features_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "diabetes_mellitus,_permanent_neonatal_3,_with_or_without_neurologic_features", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003074", + "label": "Hyperglycemia" + } + }, + { + "type": { + "id": "HP:0033354", + "label": "Abnormal urine metabolite level" + } + }, + { + "type": { + "id": "HP:0100651", + "label": "Type I diabetes mellitus" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618857", + "label": "Diabetes mellitus, permanent neonatal 3, with or without neurologic features" + } + } + ], + "metaData": { + "created": "2024-06-11T17:54:41.417177Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_permanent_neonatal_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_permanent_neonatal_4_patient_1.json new file mode 100644 index 000000000..50f8d0afd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_permanent_neonatal_4_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "diabetes_mellitus,_permanent_neonatal_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001953", + "label": "Diabetic ketoacidosis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0100651", + "label": "Type I diabetes mellitus" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0011014", + "label": "Abnormal glucose homeostasis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0040217", + "label": "Elevated hemoglobin A1c" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618858", + "label": "Diabetes mellitus, permanent neonatal 4" + } + } + ], + "metaData": { + "created": "2024-06-11T23:40:44.714414Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_transient_neonatal_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_transient_neonatal_1_patient_1.json new file mode 100644 index 000000000..8c3810f9f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_transient_neonatal_1_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "diabetes_mellitus,_transient_neonatal,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0004906", + "label": "Hypernatremic dehydration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601410", + "label": "Diabetes mellitus, transient neonatal, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:16:07.447762Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_transient_neonatal_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_transient_neonatal_2_patient_1.json new file mode 100644 index 000000000..fbd2d858a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_transient_neonatal_2_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "diabetes_mellitus,_transient_neonatal_2", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P20Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008255", + "label": "Transient neonatal diabetes mellitus" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610374", + "label": "Diabetes mellitus, transient neonatal 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:21:13.948640Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_transient_neonatal_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_transient_neonatal_3_patient_1.json new file mode 100644 index 000000000..597c8382e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_mellitus_transient_neonatal_3_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "diabetes_mellitus,_transient_neonatal,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030795", + "label": "Reduced C-peptide level" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0032443", + "label": "Past medical history" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610582", + "label": "Diabetes mellitus, transient neonatal, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T23:19:37.404409Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_permanent_neonatal_2_with_or_without_neurologic_features_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_permanent_neonatal_2_with_or_without_neurologic_features_patient_1.json new file mode 100644 index 000000000..f3b343c6e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diabetes_permanent_neonatal_2_with_or_without_neurologic_features_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "diabetes,_permanent_neonatal_2,_with_or_without_neurologic_features", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100651", + "label": "Type I diabetes mellitus" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0001993", + "label": "Ketoacidosis" + } + }, + { + "type": { + "id": "HP:0001371", + "label": "Flexion contracture" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0002069", + "label": "Bilateral tonic-clonic seizure" + } + }, + { + "type": { + "id": "HP:0002714", + "label": "Downturned corners of mouth" + } + }, + { + "type": { + "id": "HP:0012337", + "label": "Abnormal homeostasis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0002521", + "label": "Hypsarrhythmia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618856", + "label": "Diabetes, permanent neonatal 2, with or without neurologic features" + } + } + ], + "metaData": { + "created": "2024-06-11T17:57:50.082535Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_10_patient_1.json new file mode 100644 index 000000000..0a8af9614 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_10_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "diamond-blackfan_anemia_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0011476", + "label": "Profound sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0004857", + "label": "Hyperchromic macrocytic anemia" + } + }, + { + "type": { + "id": "HP:0001889", + "label": "Megaloblastic anemia" + } + }, + { + "type": { + "id": "HP:0009099", + "label": "Median cleft palate" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0000776", + "label": "Congenital diaphragmatic hernia" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0001896", + "label": "Reticulocytopenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613309", + "label": "Diamond-Blackfan anemia 10" + } + } + ], + "metaData": { + "created": "2024-06-11T17:45:38.122397Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_11_patient_1.json new file mode 100644 index 000000000..14cb197fc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_11_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "diamond-blackfan_anemia_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010972", + "label": "Anemia of inadequate production" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0005561", + "label": "Abnormal bone marrow cell morphology" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0040104", + "label": "Osseous stenosis of the external auditory canal" + } + }, + { + "type": { + "id": "HP:0002973", + "label": "Abnormal forearm morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614900", + "label": "Diamond-Blackfan anemia 11" + } + } + ], + "metaData": { + "created": "2024-06-11T23:18:26.932739Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_12_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_12_patient_1.json new file mode 100644 index 000000000..2f4d5b877 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_12_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "diamond-blackfan_anemia_12", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001199", + "label": "Triphalangeal thumb" + } + }, + { + "type": { + "id": "HP:0004861", + "label": "Refractory macrocytic anemia" + } + }, + { + "type": { + "id": "HP:0030270", + "label": "Elevated red cell adenosine deaminase activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615550", + "label": "Diamond-Blackfan anemia 12" + } + } + ], + "metaData": { + "created": "2024-06-11T18:31:34.483109Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_13_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_13_patient_1.json new file mode 100644 index 000000000..0c64f50b2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_13_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "diamond-blackfan_anemia_13", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001897", + "label": "Normocytic anemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615909", + "label": "Diamond-Blackfan anemia 13" + } + } + ], + "metaData": { + "created": "2024-06-11T21:07:56.414052Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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file mode 100644 index 000000000..b0489ef8f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_18_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "diamond-blackfan_anemia_18", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012133", + "label": "Erythroid hypoplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618310", + "label": "Diamond-Blackfan anemia 18" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:42.228574Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_19_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_19_patient_1.json new file mode 100644 index 000000000..c7c00964d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_19_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "diamond-blackfan_anemia_19", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012133", + "label": "Erythroid hypoplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618312", + "label": "Diamond-Blackfan anemia 19" + } + } + ], + "metaData": { + "created": 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file mode 100644 index 000000000..ac6078f5b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_21_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "diamond-blackfan_anemia_21", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001182", + "label": "Tapered finger" + } + }, + { + "type": { + "id": "HP:0000293", + "label": "Full cheeks" + } + }, + { + "type": { + "id": "HP:0012133", + "label": "Erythroid hypoplasia" + } + }, + { + "type": { + "id": "HP:0002967", + "label": "Cubitus valgus" + } + }, + { + "type": { + "id": "HP:0004324", + "label": "Increased body weight" + } + }, + { + "type": { + "id": "HP:0032649", + "label": "Skewfoot" + } + }, + { + "type": { + "id": "HP:0006008", + "label": "Unilateral brachydactyly" + } + }, + { + "type": { + "id": "HP:0002664", + "label": "Neoplasm" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_3_patient_1.json new file mode 100644 index 000000000..5086c66fb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_3_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "diamond-blackfan_anemia_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011904", + "label": "Persistence of hemoglobin F" + } + }, + { + "type": { + "id": "HP:0000465", + "label": "Webbed neck" + } + }, + { + "type": { + "id": "HP:0030270", + "label": "Elevated red cell adenosine deaminase activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610629", + "label": "Diamond-Blackfan anemia 3" + } + } + ], + "metaData": { + "created": "2024-06-11T18:03:15.789416Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": 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"id": "HP:0001631", + "label": "Atrial septal defect" + } + }, + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612527", + "label": "Diamond-Blackfan anemia 4" + } + } + ], + "metaData": { + "created": "2024-06-11T21:49:44.544539Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_5_patient_1.json new file mode 100644 index 000000000..a243a0390 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_5_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "diamond-blackfan_anemia_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0011893", + "label": "Abnormal leukocyte count" + } + }, + { + "type": { + "id": "HP:0004826", + "label": "Folate-unresponsive megaloblastic anemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612528", + "label": "Diamond-Blackfan anemia 5" + } + } + ], + "metaData": { + "created": "2024-06-11T21:02:26.589621Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_6_patient_1.json new file mode 100644 index 000000000..eb24ba60d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_6_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "diamond-blackfan_anemia_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0001634", + "label": "Mitral valve prolapse" + } + }, + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0009778", + "label": "Short thumb" + } + }, + { + "type": { + "id": "HP:0000278", + "label": "Retrognathia" + } + }, + { + "type": { + "id": "HP:0200128", + "label": "Biventricular hypertrophy" + } + }, + { + "type": { + "id": "HP:0001653", + "label": "Mitral regurgitation" + } + }, + { + "type": { + "id": "HP:0005518", + "label": "Increased mean corpuscular volume" + } + }, + { + "type": { + "id": "HP:0000174", + "label": "Abnormal palate morphology" + } + }, + { + "type": { + "id": "HP:0011603", + "label": "Congenital malformation of the great arteries" + } + }, + { + "type": { + "id": "HP:0001710", + "label": "Conotruncal defect" + } + }, + { + "type": { + "id": "HP:0004857", + "label": "Hyperchromic macrocytic anemia" + } + }, + { + "type": { + "id": "HP:0008755", + "label": "Laryngotracheomalacia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612561", + "label": "Diamond-Blackfan anemia 6" + } + } + ], + "metaData": { + "created": "2024-06-11T18:33:03.609193Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_7_patient_1.json new file mode 100644 index 000000000..7874c148d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_7_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "diamond-blackfan_anemia_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010487", + "label": "Small hypothenar eminence" + } + }, + { + "type": { + "id": "HP:0001684", + "label": "Secundum atrial septal defect" + } + }, + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0000938", + "label": "Osteopenia" + } + }, + { + "type": { + "id": "HP:0000939", + "label": "Osteoporosis" + } + }, + { + "type": { + "id": "HP:0009778", + "label": "Short thumb" + } + }, + { + "type": { + "id": "HP:0001199", + "label": "Triphalangeal thumb" + } + }, + { + "type": { + "id": "HP:0000372", + "label": "Abnormal auditory canal morphology" + } + }, + { + "type": { + "id": "HP:0012716", + "label": "Moderate conductive hearing impairment" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0410151", + "label": "Eosinophilic infiltration of the esophagus" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0011408", + "label": "Moderate intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0032101", + "label": "Unusual infection" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612562", + "label": "Diamond-Blackfan anemia 7" + } + } + ], + "metaData": { + "created": "2024-06-11T18:57:36.391703Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_8_patient_1.json new file mode 100644 index 000000000..0e2c95bb3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_8_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "diamond-blackfan_anemia_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003561", + "label": "Birth length less than 3rd percentile" + } + }, + { + "type": { + "id": "HP:0001889", + "label": "Megaloblastic anemia" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612563", + "label": "Diamond-Blackfan anemia 8" + } + } + ], + "metaData": { + "created": "2024-06-11T19:20:59.889680Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_9_patient_1.json new file mode 100644 index 000000000..ae3b65d52 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_9_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "diamond-blackfan_anemia_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100512", + "label": "Decreased circulating vitamin D concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613308", + "label": "Diamond-Blackfan anemia 9" + } + } + ], + "metaData": { + "created": "2024-06-11T18:06:05.778563Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_like_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_like_patient_1.json new file mode 100644 index 000000000..a8017e6e9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diamond_Blackfan_anemia_like_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "diamond-blackfan_anemia-like", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033074", + "label": "Steroid-responsive anemia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617911", + "label": "Diamond-Blackfan anemia-like" + } + } + ], + "metaData": { + "created": "2024-06-11T19:31:21.743906Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diaphanospondylodysostosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diaphanospondylodysostosis_patient_1.json new file mode 100644 index 000000000..0db92fe6f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diaphanospondylodysostosis_patient_1.json @@ -0,0 +1,195 @@ +{ + "id": "diaphanospondylodysostosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003275", + "label": "Narrow pelvis bone" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001804", + "label": "Hypoplastic fingernail" + } + }, + { + "type": { + "id": "HP:0200133", + "label": "Lumbosacral meningocele" + } + }, + { + "type": { + "id": "HP:0002126", + "label": "Polymicrogyria" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0001765", + "label": 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"HP:0011119", + "label": "Abnormal nasal dorsum morphology" + } + }, + { + "type": { + "id": "HP:0003196", + "label": "Short nose" + } + }, + { + "type": { + "id": "HP:0000465", + "label": "Webbed neck" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0001538", + "label": "Protuberant abdomen" + } + }, + { + "type": { + "id": "HP:0006829", + "label": "Severe muscular hypotonia" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608022", + "label": "Diaphanospondylodysostosis" + } + } + ], + "metaData": { + "created": "2024-06-11T22:12:12.628894Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diaphragmatic_defects_limb_deficiencies_and_ossification_defects_of_skull_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diaphragmatic_defects_limb_deficiencies_and_ossification_defects_of_skull_patient_1.json new file mode 100644 index 000000000..0792b936f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diaphragmatic_defects_limb_deficiencies_and_ossification_defects_of_skull_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "diaphragmatic_defects,_limb_deficiencies,_and_ossification_defects_of_skull", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004209", + "label": "Clinodactyly of the 5th finger" + } + }, + { + "type": { + "id": "HP:0009812", + "label": "Amelia involving the upper limbs" + } + }, + { + "type": { + "id": "HP:0000775", + "label": "Abnormality of the diaphragm" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601163", + "label": "Diaphragmatic defects, limb deficiencies, and ossification defects of skull" + } + } + ], + "metaData": { + "created": "2024-06-11T21:41:47.272197Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diaphragmatic_hernia_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diaphragmatic_hernia_2_patient_1.json new file mode 100644 index 000000000..da84efe4a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diaphragmatic_hernia_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "diaphragmatic_hernia_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008986", + "label": "Agenesis of the diaphragm" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:222400", + "label": "Diaphragmatic hernia 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:10:18.497077Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + 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index 000000000..f33aa394e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diaphragmatic_hernia_4_with_cardiovascular_defects_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "diaphragmatic_hernia_4,_with_cardiovascular_defects", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009112", + "label": "Aplasia of the left hemidiaphragm" + } + }, + { + "type": { + "id": "HP:0000414", + "label": "Bulbous nose" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0002089", + "label": "Pulmonary hypoplasia" + } + }, + { + "type": { + "id": "HP:0000256", + "label": "Macrocephaly" + } + }, + { + "type": { + "id": "HP:0009110", + "label": "Diaphragmatic eventration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620025", + "label": "Diaphragmatic hernia 4, with cardiovascular defects" + 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"namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diarrhea_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diarrhea_6_patient_1.json new file mode 100644 index 000000000..906cbabfe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diarrhea_6_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "diarrhea_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0002028", + "label": "Chronic diarrhea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614616", + "label": "Diarrhea 6" + } + } + ], + "metaData": { + "created": "2024-06-11T20:41:22.498752Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diarrhea_7_protein_losing_Enteropathy_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diarrhea_7_protein_losing_Enteropathy_type_patient_1.json new file mode 100644 index 000000000..1b61b1a27 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diarrhea_7_protein_losing_Enteropathy_type_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "diarrhea_7,_protein-losing_enteropathy_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002243", + "label": "Protein-losing enteropathy" + } + }, + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0002027", + "label": "Abdominal pain" + } + }, + { + "type": { + "id": "HP:0003124", + "label": "Hypercholesterolemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615863", + "label": "Diarrhea 7, protein-losing Enteropathy type" + } + } + ], + "metaData": { + "created": "2024-06-11T19:54:54.633091Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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file mode 100644 index 000000000..76c023d6f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diarrhea_9_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "diarrhea_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0025129", + "label": "Abnormal small intestinal mucosa morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618168", + "label": "Diarrhea 9" + } + } + ], + "metaData": { + "created": "2024-06-11T21:11:52.713761Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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weakness of the linea alba" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:05.117122Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diastema_dental_medial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diastema_dental_medial_patient_1.json new file mode 100644 index 000000000..8b7142102 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diastema_dental_medial_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "diastema,_dental_medial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001566", + "label": "Widely-spaced maxillary central incisors" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125900", + "label": "Diastema, dental medial" + } + } + ], + "metaData": { + "created": "2024-06-11T20:48:52.332769Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diastrophic_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diastrophic_dysplasia_patient_1.json new file mode 100644 index 000000000..8e6271d19 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diastrophic_dysplasia_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "diastrophic_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0009465", + "label": "Ulnar deviation of finger" + } + }, + { + "type": { + "id": "HP:0001518", + "label": "Small for gestational age" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0046508", + "label": "Abnormal cervical spine morphology" + } + }, + { + "type": { + "id": "HP:0001234", + "label": "Hitchhiker thumb" + } + }, + { + "type": { + "id": "HP:0003423", + "label": "Thoracolumbar kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0004894", + "label": "Laryngotracheal stenosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:222600", + "label": "Diastrophic dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T22:16:43.709555Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dibasic_amino_aciduria_I_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dibasic_amino_aciduria_I_patient_1.json new file mode 100644 index 000000000..1cc97890d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dibasic_amino_aciduria_I_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dibasic_amino_aciduria_i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003268", + "label": "Argininuria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:222690", + "label": "Dibasic amino aciduria I" + } + } + ], + "metaData": { + "created": "2024-06-11T17:43:57.974007Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, 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+ } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:222730", + "label": "Dicarboxylicamino aciduria" + } + } + ], + "metaData": { + "created": "2024-06-11T18:17:06.092948Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Diencephalic_mesencephalic_junction_dysplasia_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diencephalic_mesencephalic_junction_dysplasia_syndrome_2_patient_1.json new file mode 100644 index 000000000..f4af59418 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Diencephalic_mesencephalic_junction_dysplasia_syndrome_2_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "diencephalic-mesencephalic_junction_dysplasia_syndrome_2", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002134", + "label": "Abnormal basal ganglia morphology" + } + }, + { + "type": { + "id": "HP:0008872", + "label": "Feeding difficulties in infancy" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618646", + "label": "Diencephalic-mesencephalic junction dysplasia syndrome 2" + } + } + ], + "metaData": { + "created": 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at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dimethylglycine_dehydrogenase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dimethylglycine_dehydrogenase_deficiency_patient_1.json new file mode 100644 index 000000000..499d0249f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dimethylglycine_dehydrogenase_deficiency_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "dimethylglycine_dehydrogenase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003750", + "label": "Increased muscle fatiguability" + } + }, + { + "type": { + "id": "HP:0410020", + "label": "Fish odor" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605850", + "label": "Dimethylglycine dehydrogenase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T21:14:10.796295Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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"id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001888", + "label": "Lymphopenia" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0002719", + "label": "Recurrent infections" + } + }, + { + "type": { + "id": "HP:0200042", + "label": "Skin ulcer" + } + }, + { + "type": { + "id": "HP:0006739", + "label": "Squamous cell carcinoma of the skin" + } + }, + { + "type": { + "id": "HP:0011830", + "label": "Abnormal oral mucosa morphology" + } + }, + { + "type": { + "id": "HP:0012344", + "label": "Morphea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620443", + "label": "Disabling pansclerotic morphea of childhood" + } + } + ], + "metaData": { + "created": "2024-06-11T22:53:04.563729Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Discrimination_two_point_reduction_in_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Discrimination_two_point_reduction_in_patient_1.json new file mode 100644 index 000000000..c8a7c17b8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Discrimination_two_point_reduction_in_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "discrimination,_two-point,_reduction_in", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000707", + "label": "Abnormality of the nervous system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:126180", + "label": "Discrimination, two-point, reduction in" + } + } + ], + "metaData": { + "created": "2024-06-11T21:31:38.848976Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Disordered_steroidogenesis_due_to_cytochrome_P450_oxidoreductase_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Disordered_steroidogenesis_due_to_cytochrome_P450_oxidoreductase_patient_1.json new file mode 100644 index 000000000..46f2299ba --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Disordered_steroidogenesis_due_to_cytochrome_P450_oxidoreductase_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "disordered_steroidogenesis_due_to_cytochrome_p450_oxidoreductase", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008258", + "label": "Congenital adrenal hyperplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613571", + "label": "Disordered steroidogenesis due to cytochrome P450 oxidoreductase" + } + } + ], + "metaData": { + "created": "2024-06-11T21:09:31.312343Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", 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+ "type": { + "id": "HP:0012033", + "label": "Sacral lipoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:223200", + "label": "Disorganization, mouse, homolog of" + } + } + ], + "metaData": { + "created": "2024-06-11T18:10:01.334146Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Distal_renal_tubular_acidosis_3_with_or_without_sensorineural_hearing_loss_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Distal_renal_tubular_acidosis_3_with_or_without_sensorineural_hearing_loss_patient_1.json new file mode 100644 index 000000000..409b50c74 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Distal_renal_tubular_acidosis_3_with_or_without_sensorineural_hearing_loss_patient_1.json @@ -0,0 +1,86 @@ +{ + "id": "distal_renal_tubular_acidosis_3,_with_or_without_sensorineural_hearing_loss", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P4Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0001944", + "label": "Dehydration" + } + }, + { + "type": { + "id": "HP:0001942", + "label": "Metabolic acidosis" + } + }, + { + "type": { + "id": "HP:0008341", + "label": "Distal renal tubular acidosis" + } + }, + { + "type": { + "id": "HP:0002150", + "label": "Hypercalciuria" + } + }, + { + "type": { + "id": "HP:0002900", + "label": "Hypokalemia" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602722", + "label": "Distal renal tubular acidosis 3, with or without sensorineural hearing loss" + } + } + ], + "metaData": { + "created": "2024-06-11T21:02:27.325900Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Distichiasis_with_congenital_anomalies_of_the_heart_and_peripheral_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Distichiasis_with_congenital_anomalies_of_the_heart_and_peripheral_patient_1.json new file mode 100644 index 000000000..ee5151290 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Distichiasis_with_congenital_anomalies_of_the_heart_and_peripheral_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "distichiasis_with_congenital_anomalies_of_the_heart_and_peripheral", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011650", + "label": "Bilateral ductus arteriosus" + } + }, + { + "type": { + "id": "HP:0005297", + "label": "Premature occlusive vascular stenosis" + } + }, + { + "type": { + "id": "HP:0010438", + "label": "Abnormal ventricular septum morphology" + } + }, + { + "type": { + "id": "HP:0033353", + "label": "Abnormal blood vessel morphology" + } + }, + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:126320", + "label": "Distichiasis with congenital anomalies of the heart and peripheral" + } + } + ], + "metaData": { + "created": "2024-06-11T23:04:00.960731Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dk_phocomelia_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dk_phocomelia_syndrome_patient_1.json new file mode 100644 index 000000000..0be80b8f0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dk_phocomelia_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dk_phocomelia_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002084", + "label": "Encephalocele" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:223340", + "label": "Dk phocomelia syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:20:29.373538Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dohle_bodies_and_leukemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dohle_bodies_and_leukemia_patient_1.json new file mode 100644 index 000000000..004e35150 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dohle_bodies_and_leukemia_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "dohle_bodies_and_leukemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001004", + "label": "Lymphedema" + } + }, + { + "type": { + "id": "HP:0040235", + "label": "Leukocyte inclusion bodies" + } + }, + { + "type": { + "id": "HP:0001684", + "label": "Secundum atrial septal defect" + } + }, + { + "type": { + "id": "HP:0032324", + "label": "Non-periodic recurrent fever" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:223350", + "label": "Dohle bodies and leukemia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:39:05.216575Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Donnai_Barrow_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Donnai_Barrow_syndrome_patient_1.json new file mode 100644 index 000000000..67a09dc6e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Donnai_Barrow_syndrome_patient_1.json @@ -0,0 +1,195 @@ +{ + "id": "donnai-barrow_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0000556", + "label": "Retinal dystrophy" + } + }, + { + "type": { + "id": "HP:0012781", + "label": "Mid-frequency hearing loss" + } + }, + { + "type": { + "id": "HP:0000813", + "label": "Bicornuate uterus" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0001338", + "label": "Partial agenesis of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0000612", + "label": "Iris coloboma" + } + }, + { + "type": { + "id": "HP:0012718", + "label": "Abnormal gastrointestinal tract morphology" + } + }, + { + "type": { + "id": "HP:0020129", + "label": "Abnormal urine protein level" + } + }, + { + "type": { + "id": "HP:0007370", + "label": "Aplasia/Hypoplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0000260", + "label": "Wide anterior fontanel" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0009112", + "label": "Aplasia of the left hemidiaphragm" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0100790", + "label": "Hernia" + } + }, + { + "type": { + "id": "HP:0003196", + "label": "Short nose" + } + }, + { + "type": { + "id": "HP:0004482", + "label": "Relative macrocephaly" + } + }, + { + "type": { + "id": "HP:0005574", + "label": "Non-acidotic proximal tubulopathy" + } + }, + { + "type": { + "id": "HP:0011344", + "label": "Severe global developmental delay" + } + }, + { + "type": { + "id": "HP:0000272", + "label": "Malar flattening" + } + }, + { + "type": { + "id": "HP:0200006", + "label": "Slanting of the palpebral fissure" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0011003", + "label": "High myopia" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0001338", + "label": "Partial agenesis of the corpus callosum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:222448", + "label": "Donnai-Barrow syndrome" + } + } + ], + "metaData": { + "created": "2024-06-12T02:19:57.763618Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Donohue_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Donohue_syndrome_patient_1.json new file mode 100644 index 000000000..d2ce13ad4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Donohue_syndrome_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "donohue_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004405", + "label": "Prominent nipples" + } + }, + { + "type": { + "id": "HP:0001395", + "label": "Hepatic fibrosis" + } + }, + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" + } + }, + { + "type": { + "id": "HP:0008665", + "label": "Clitoral hypertrophy" + } + }, + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0011914", + "label": "Thoracic hypertrichosis" + } + }, + { + "type": { + "id": "HP:0000179", + "label": "Thick lower lip vermilion" + } + }, + { + "type": { + "id": "HP:0004298", + "label": "Abnormality of the abdominal wall" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:246200", + "label": "Donohue syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:35:57.303914Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Doors_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Doors_syndrome_patient_1.json new file mode 100644 index 000000000..df25f1a8c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Doors_syndrome_patient_1.json @@ -0,0 +1,231 @@ +{ + "id": "doors_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0030190", + "label": "Oral motor hypotonia" + } + }, + { + "type": { + "id": "HP:0008615", + "label": "Adult onset sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0000194", + "label": "Open mouth" + } + }, + { + "type": { + "id": "HP:0000339", + "label": "Pugilistic facies" + } + }, + { + "type": { + "id": "HP:0000341", + "label": "Narrow forehead" + } + }, + { + "type": { + "id": "HP:0000178", + "label": "Abnormal lower lip morphology" + } + }, + { + "type": { + "id": "HP:0011003", + "label": "High myopia" + } + }, + { + "type": { + "id": "HP:0008386", + "label": "Aplasia/Hypoplasia of the nails" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0007875", + "label": "Congenital blindness" + } + }, + { + "type": { + "id": "HP:0000212", + "label": "Gingival overgrowth" + } + }, + { + "type": { + "id": "HP:0001167", + "label": "Abnormal finger morphology" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0007100", + "label": "Progressive ventriculomegaly" + } + }, + { + "type": { + "id": "HP:0000294", + "label": "Low anterior hairline" + } + }, + { + "type": { + "id": "HP:0008398", + "label": "Hypoplastic fifth fingernail" + } + }, + { + "type": { + "id": "HP:0010697", + "label": "Anterior pyramidal cataract" + } + }, + { + "type": { + "id": "HP:0002506", + "label": "Diffuse cerebral atrophy" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0012402", + "label": "Increased urine alpha-ketoglutarate concentration" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0000405", + "label": "Conductive hearing impairment" + } + }, + { + "type": { + "id": "HP:0100547", + "label": "Abnormal forebrain morphology" + } + }, + { + "type": { + "id": "HP:0002714", + "label": "Downturned 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"double_nail_for_fifth_toe", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000924", + "label": "Abnormality of the skeletal system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:126500", + "label": "Double nail for fifth toe" + } + } + ], + "metaData": { + "created": "2024-06-11T18:43:02.385779Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dowling_Degos_disease_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dowling_Degos_disease_2_patient_1.json new file mode 100644 index 000000000..24771632e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dowling_Degos_disease_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "dowling-degos_disease_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007588", + "label": "Reticular hyperpigmentation" + } + }, + { + "type": { + "id": "HP:0045059", + "label": "Hyperkeratotic papule" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615327", + "label": "Dowling-Degos disease 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:53:54.968651Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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"term": { + "id": "OMIM:615674", + "label": "Dowling-Degos disease 3" + } + } + ], + "metaData": { + "created": "2024-06-11T21:57:30.426513Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dowling_Degos_disease_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dowling_Degos_disease_4_patient_1.json new file mode 100644 index 000000000..6a6b70f8a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dowling_Degos_disease_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dowling-degos_disease_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200034", + "label": "Papule" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615696", + "label": "Dowling-Degos disease 4" + } + } + ], + "metaData": { + "created": "2024-06-11T20:23:05.282848Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dowling_Degos_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dowling_Degos_disease_patient_1.json new file mode 100644 index 000000000..6b2986e2e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dowling_Degos_disease_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dowling-degos_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007456", + "label": "Progressive reticulate hyperpigmentation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:179850", + "label": "Dowling-Degos disease" + } + } + ], + "metaData": { + "created": "2024-06-11T21:01:23.076470Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + 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"diseases": [ + { + "term": { + "id": "OMIM:190685", + "label": "Down syndrome" + } + } + ], + "metaData": { + "created": "2024-06-12T01:41:59.567724Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Doyne_honeycomb_retinal_dystrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Doyne_honeycomb_retinal_dystrophy_patient_1.json new file mode 100644 index 000000000..02fd6bb85 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Doyne_honeycomb_retinal_dystrophy_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "doyne_honeycomb_retinal_dystrophy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007937", + "label": "Reticular pigmentary degeneration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:126600", + "label": "Doyne honeycomb retinal dystrophy" + } + } + ], + "metaData": { + "created": "2024-06-11T20:35:12.392924Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Drug_metabolism_altered_CES1_related_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Drug_metabolism_altered_CES1_related_patient_1.json new file mode 100644 index 000000000..3802ce9fe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Drug_metabolism_altered_CES1_related_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "drug_metabolism,_altered,_ces1-related", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0020169", + "label": "Abnormal drug response" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618057", + "label": "Drug metabolism, altered, CES1-related" + } + } + ], + "metaData": { + "created": "2024-06-11T22:41:57.956321Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Drug_metabolism_poor_cyp2d6_relateddrug_metabolism_ultrarapid_cyp2d6_related_included_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "drug_metabolism,_poor,_cyp2d6-relateddrug_metabolism,_ultrarapid,_cyp2d6-related,_included", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002664", + "label": "Neoplasm" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608902", + "label": "Drug metabolism, poor, cyp2d6-relateddrug metabolism, ultrarapid, cyp2d6-related, included" + } + } + ], + "metaData": { + "created": "2024-06-12T00:31:38.006087Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Duane_Radial_ray_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Duane_Radial_ray_syndrome_patient_1.json new file mode 100644 index 000000000..2728cfff9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Duane_Radial_ray_syndrome_patient_1.json @@ -0,0 +1,225 @@ +{ + "id": "duane-radial_ray_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003974", + "label": "Absent radius" + } + }, + { + "type": { + "id": "HP:0000126", + "label": "Hydronephrosis" + } + }, + { + "type": { + "id": "HP:0000612", + "label": "Iris coloboma" + } + }, + { + "type": { + "id": "HP:0004712", + "label": "Renal malrotation" + } + }, + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0001245", + "label": "Small thenar eminence" + } + }, + { + "type": { + "id": "HP:0000104", + "label": "Renal agenesis" + } + }, + { + "type": { + "id": "HP:0003834", + "label": "Shoulder dislocation" + } + }, + { + "type": { + "id": "HP:0000286", + "label": "Epicanthus" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0003022", + "label": "Hypoplasia of the ulna" + } + }, + { + "type": { + "id": "HP:0005792", + "label": "Short humerus" + } + }, + { + "type": { + "id": "HP:0000634", + "label": "Impaired ocular abduction" + } + }, + { + "type": { + "id": "HP:0010048", + "label": "Aplasia of metacarpal bones" + } + }, + { + "type": { + "id": "HP:0001852", + "label": "Sandal gap" + } + }, + { + "type": { + "id": "HP:0009778", + "label": "Short thumb" + } + }, + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal defect" + } + }, + { + "type": { + "id": "HP:0000452", + "label": "Choanal stenosis" + } + }, + { + "type": { + "id": "HP:0003298", + "label": "Spina bifida occulta" + } + }, + { + "type": { + "id": "HP:0001159", + "label": "Syndactyly" + } + }, + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0000480", + "label": "Retinal coloboma" + } + }, + { + "type": { + "id": "HP:0000089", + "label": "Renal hypoplasia" + } + }, + { + "type": { + "id": "HP:0000549", + "label": "Abnormal conjugate eye movement" + } + }, + { + "type": { + "id": "HP:0002023", + "label": "Anal atresia" + } + }, + { + "type": { + "id": "HP:0000085", + "label": "Horseshoe kidney" + } + }, + { + "type": { + "id": "HP:0032649", + "label": "Skewfoot" + } + }, + { + "type": { + "id": "HP:0000549", + "label": "Abnormal conjugate eye movement" + } + }, + { + "type": { + "id": "HP:0002973", + "label": "Abnormal forearm morphology" + } + }, + { + "type": { + "id": "HP:0011480", + "label": "Unilateral microphthalmos" + } + }, + { + "type": { + "id": "HP:0005922", + "label": "Abnormal hand morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607323", + "label": "Duane-Radial ray syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:26:22.162516Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Duane_retraction_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Duane_retraction_syndrome_1_patient_1.json new file mode 100644 index 000000000..97023e00f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Duane_retraction_syndrome_1_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "duane_retraction_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000634", + "label": "Impaired ocular abduction" + } + }, + { + "type": { + "id": "HP:0000549", + "label": "Abnormal conjugate eye movement" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:126800", + "label": "Duane retraction syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:22:58.577607Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Duane_retraction_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Duane_retraction_syndrome_2_patient_1.json new file mode 100644 index 000000000..229e6554b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Duane_retraction_syndrome_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "duane_retraction_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000646", + "label": "Amblyopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604356", + "label": "Duane retraction syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:16:39.224056Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Duane_retraction_syndrome_3_with_or_without_deafness_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Duane_retraction_syndrome_3_with_or_without_deafness_patient_1.json new file mode 100644 index 000000000..4c2779ee3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Duane_retraction_syndrome_3_with_or_without_deafness_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "duane_retraction_syndrome_3_with_or_without_deafness", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000661", + "label": "Palpebral fissure narrowing on adduction" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617041", + "label": "Duane retraction syndrome 3 with or without deafness" + } + } + ], + "metaData": { + "created": "2024-06-11T20:46:03.167761Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dubowitz_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dubowitz_syndrome_patient_1.json new file mode 100644 index 000000000..7c8f194c1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dubowitz_syndrome_patient_1.json @@ -0,0 +1,212 @@ +{ + "id": "dubowitz_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + }, + { + "type": { + "id": "HP:0000023", + "label": "Inguinal hernia" + } + }, + { + "type": { + "id": "HP:0002209", + "label": "Sparse scalp hair" + } + }, + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + } + }, + { + "type": { + "id": "HP:0004209", + "label": "Clinodactyly of the 5th finger" + } + }, + { + "type": { + "id": "HP:0012471", + "label": "Thick vermilion border" + } + }, + { + "type": { + "id": "HP:0000274", + "label": "Small face" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0000455", + "label": "Broad nasal tip" + } + }, + { + "type": { + "id": "HP:0002572", + "label": "Episodic vomiting" + } + }, + { + "type": { + "id": "HP:0000348", + "label": "High forehead" + } + }, + { + "type": { + "id": "HP:0002028", + "label": "Chronic diarrhea" + } + }, + { + "type": { + "id": "HP:0000426", + "label": "Prominent nasal bridge" + } + }, + { + "type": { + "id": "HP:0000047", + "label": "Hypospadias" + } + }, + { + "type": { + "id": "HP:0000684", + "label": "Delayed eruption of teeth" + } + }, + { + "type": { + "id": "HP:0000964", + "label": "Eczematoid dermatitis" + } + }, + { + "type": { + "id": "HP:0000176", + "label": "Submucous cleft hard palate" + } + }, + { + "type": { + "id": "HP:0001620", + "label": "High pitched voice" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0002720", + "label": "Decreased circulating IgA level" + } + }, + { + "type": { + "id": "HP:0009891", + "label": "Underdeveloped supraorbital ridges" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0005338", + "label": "Sparse lateral eyebrow" + } + }, + { + "type": { + "id": "HP:0000960", + "label": "Sacral dimple" + } + }, + { + "type": { + "id": "HP:0000485", + "label": "Megalocornea" + } + }, + { + "type": { + "id": "HP:0200007", + "label": "Abnormal size of the palpebral fissures" + } + }, + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:223370", + "label": "Dubowitz syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:46:37.185739Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Duchenne_muscular_dystrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Duchenne_muscular_dystrophy_patient_1.json new file mode 100644 index 000000000..07de25be8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Duchenne_muscular_dystrophy_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "duchenne_muscular_dystrophy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003560", + "label": "Muscular dystrophy" + } + }, + { + "type": { + "id": "HP:0031372", + "label": "Cold paresis" + } + }, + { + "type": { + "id": "HP:0002515", + "label": "Waddling gait" + } + }, + { + "type": { + "id": "HP:0004302", + "label": "Functional motor deficit" + } + }, + { + "type": { + "id": "HP:0003089", + "label": "Hamstring contractures" + } + }, + { + "type": { + "id": "HP:0003391", + "label": "Gowers sign" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:310200", + "label": "Duchenne muscular dystrophy" + } + } + ], + "metaData": { + "created": "2024-06-11T23:45:32.195910Z", + "createdBy": 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0002247", + "label": "Duodenal atresia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:223400", + "label": "Duodenal atresia" + } + } + ], + "metaData": { + "created": "2024-06-11T19:07:01.855711Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Duodenal_ulcer_hyperpepsinogenemic_I_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Duodenal_ulcer_hyperpepsinogenemic_I_patient_1.json new file mode 100644 index 000000000..289bdcacd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Duodenal_ulcer_hyperpepsinogenemic_I_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "duodenal_ulcer,_hyperpepsinogenemic_i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002588", + "label": "Duodenal ulcer" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:126850", + "label": "Duodenal ulcer, hyperpepsinogenemic I" + } + } + ], + "metaData": { + "created": "2024-06-11T18:52:42.897240Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dupuytren_contracture_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dupuytren_contracture_1_patient_1.json new file mode 100644 index 000000000..cf0007b79 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dupuytren_contracture_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dupuytren_contracture_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005679", + "label": "Dupuytren contracture" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:126900", + "label": "Dupuytren contracture 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:23:48.906236Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dwarfism_Levi_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dwarfism_Levi_type_patient_1.json new file mode 100644 index 000000000..15972821b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dwarfism_Levi_type_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dwarfism,_levi_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003510", + "label": "Severe short stature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:127100", + "label": "Dwarfism, Levi type" + } + } + ], + "metaData": { + "created": "2024-06-11T21:14:23.442936Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dwarfism_low_birth_weight_type_with_unresponsiveness_to_growth_hormone_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dwarfism_low_birth_weight_type_with_unresponsiveness_to_growth_hormone_patient_1.json new file mode 100644 index 000000000..83ece0fc4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dwarfism_low_birth_weight_type_with_unresponsiveness_to_growth_hormone_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dwarfism,_low-birth-weight_type,_with_unresponsiveness_to_growth_hormone", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:223500", + "label": "Dwarfism, low-birth-weight type, with unresponsiveness to growth hormone" + } + } + ], + "metaData": { + "created": "2024-06-11T20:13:12.369242Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dwarfism_proportionate_with_hip_dislocation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dwarfism_proportionate_with_hip_dislocation_patient_1.json new file mode 100644 index 000000000..6d3e84be4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dwarfism_proportionate_with_hip_dislocation_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dwarfism,_proportionate,_with_hip_dislocation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003510", + "label": "Severe short stature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:223550", + "label": "Dwarfism, proportionate, with hip dislocation" + } + } + ], + "metaData": { + "created": "2024-06-11T22:41:42.509716Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dwarfism_with_tall_vertebrae_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dwarfism_with_tall_vertebrae_patient_1.json new file mode 100644 index 000000000..a507bc7f5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dwarfism_with_tall_vertebrae_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dwarfism_with_tall_vertebrae", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002812", + "label": "Coxa vara" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:126950", + "label": "Dwarfism with tall vertebrae" + } + } + ], + "metaData": { + "created": "2024-06-11T20:56:19.168535Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dworschak_Punetha_neurodevelopmental_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dworschak_Punetha_neurodevelopmental_syndrome_patient_1.json new file mode 100644 index 000000000..bdbc0a28e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dworschak_Punetha_neurodevelopmental_syndrome_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "dworschak-punetha_neurodevelopmental_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000729", + "label": "Autistic behavior" + } + }, + { + "type": { + "id": "HP:0006989", + "label": "Dysplastic corpus callosum" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0007766", + "label": "Optic disc hypoplasia" + } + }, + { + "type": { + "id": "HP:0009748", + "label": "Large earlobe" + } + }, + { + "type": { + "id": "HP:0001274", + "label": "Agenesis of corpus callosum" + } + }, + { + "type": { + "id": "HP:0003236", + "label": "Elevated circulating creatine kinase concentration" + } + }, + { + "type": { + "id": "HP:0011344", + "label": "Severe global developmental delay" + } + }, + { + "type": { + "id": "HP:0005338", + "label": "Sparse lateral eyebrow" + } + }, + { + "type": { + "id": "HP:0033737", + "label": "Grade III vesicoureteral reflux" + } + }, + { + "type": { + "id": "HP:0010542", + "label": "Vestibular nystagmus" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0025015", + "label": "Abnormal vascular morphology" + } + }, + { + "type": { + "id": "HP:0030048", + "label": "Colpocephaly" + } + }, + { + "type": { + "id": "HP:0007687", + "label": "Unilateral ptosis" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619955", + "label": "Dworschak-Punetha neurodevelopmental syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:14:59.186768Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyggve_Melchior_Clausen_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyggve_Melchior_Clausen_disease_patient_1.json new file mode 100644 index 000000000..b2a113b74 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyggve_Melchior_Clausen_disease_patient_1.json @@ -0,0 +1,165 @@ +{ + "id": "dyggve-melchior-clausen_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003183", + "label": "Wide pubic symphysis" + } + }, + { + "type": { + "id": "HP:0000914", + "label": "Shield chest" + } + }, + { + "type": { + "id": "HP:0002938", + "label": "Lumbar hyperlordosis" + } + }, + { + "type": { + "id": "HP:0004991", + "label": "Rhizomelic arm shortening" + } + }, + { + "type": { + "id": "HP:0003016", + "label": "Metaphyseal widening" + } + }, + { + "type": { + "id": "HP:0004209", + "label": "Clinodactyly of the 5th finger" + } + }, + { + "type": { + "id": "HP:0010230", + "label": "Cone-shaped epiphyses of the phalanges of the hand" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + } + }, + { + "type": { + "id": "HP:0000768", + "label": "Pectus carinatum" + } + }, + { + "type": { + "id": "HP:0002866", + "label": "Hypoplastic iliac wing" + } + }, + { + "type": { + "id": "HP:0012428", + "label": "Prominent calcaneus" + } + }, + { + "type": { + "id": "HP:0002808", + "label": "Kyphosis" + } + }, + { + "type": { + "id": "HP:0002515", + "label": "Waddling gait" + } + }, + { + "type": { + "id": "HP:0011344", + "label": "Severe global developmental delay" + } + }, + { + "type": { + "id": "HP:0000280", + "label": "Coarse facial features" + } + }, + { + "type": { + "id": "HP:0100531", + "label": "Wind-swept deformity of the knees" + } + }, + { + "type": { + "id": "HP:0005659", + "label": "Thoracic kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0005787", + "label": "Lumbar platyspondyly" + } + }, + { + "type": { + "id": "HP:0011821", + "label": "Abnormal facial skeleton morphology" + } + }, + { + "type": { + "id": "HP:0006589", + "label": "Flaring of lower rib cage" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:223800", + "label": "Dyggve-Melchior-Clausen disease" + } + } + ], + "metaData": { + "created": "2024-06-11T22:58:24.941248Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dysautonomia_Like_disorder_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dysautonomia_Like_disorder_patient_1.json new file mode 100644 index 000000000..9c4810960 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dysautonomia_Like_disorder_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dysautonomia-like_disorder", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:224000", + "label": "Dysautonomia-Like disorder" + } + } + ], + "metaData": { + "created": "2024-06-11T23:02:50.012957Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyschromatosis_symmetrica_hereditaria_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyschromatosis_symmetrica_hereditaria_1_patient_1.json new file mode 100644 index 000000000..c05208269 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyschromatosis_symmetrica_hereditaria_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dyschromatosis_symmetrica_hereditaria_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007441", + "label": "Hyperpigmented/hypopigmented macules" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:127400", + "label": "Dyschromatosis symmetrica hereditaria 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:45:29.140846Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyschromatosis_universalis_hereditaria_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyschromatosis_universalis_hereditaria_3_patient_1.json new file mode 100644 index 000000000..0f73932f2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyschromatosis_universalis_hereditaria_3_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "dyschromatosis_universalis_hereditaria_3", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001034", + "label": "Hypermelanotic macule" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615402", + "label": "Dyschromatosis universalis hereditaria 3" + } + } + ], + "metaData": { + "created": "2024-06-12T01:06:37.980987Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyschromatosis_universalis_hereditaria_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyschromatosis_universalis_hereditaria_patient_1.json new file mode 100644 index 000000000..7e353da2b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyschromatosis_universalis_hereditaria_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dyschromatosis_universalis_hereditaria", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007441", + "label": "Hyperpigmented/hypopigmented macules" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:127500", + "label": "Dyschromatosis universalis hereditaria" + } + } + ], + "metaData": { + "created": "2024-06-11T22:35:02.292360Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyserythropoiesis_congenital_with_ultrastructurally_normal_erythroblastheterochromatin_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyserythropoiesis_congenital_with_ultrastructurally_normal_erythroblastheterochromatin_patient_1.json new file mode 100644 index 000000000..e529fa115 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyserythropoiesis_congenital_with_ultrastructurally_normal_erythroblastheterochromatin_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dyserythropoiesis,_congenital,_with_ultrastructurally_normal_erythroblastheterochromatin", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010972", + "label": "Anemia of inadequate production" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603529", + "label": "Dyserythropoiesis, congenital, with ultrastructurally normal erythroblastheterochromatin" + } + } + ], + "metaData": { + "created": "2024-06-11T23:20:50.269054Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyskeratosis_congenita_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyskeratosis_congenita_X_linked_patient_1.json new file mode 100644 index 000000000..cc99049fa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyskeratosis_congenita_X_linked_patient_1.json @@ -0,0 +1,122 @@ +{ + "id": "dyskeratosis_congenita,_x-linked", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P17Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004808", + "label": "Acute myeloid leukemia" + } + }, + { + "type": { + "id": "HP:0009926", + "label": "Epiphora" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0007427", + "label": "Reticulated skin pigmentation" + } + }, + { + "type": { + "id": "HP:0002216", + "label": "Premature graying of hair" + } + }, + { + "type": { + "id": "HP:0030731", + "label": "Carcinoma" + } + }, + { + "type": { + "id": "HP:0008404", + "label": "Nail dystrophy" + } + }, + { + "type": { + "id": "HP:0040050", + "label": "Sparse upper eyelashes" + } + }, + { + "type": { + "id": "HP:0004349", + "label": "Reduced bone mineral density" + } + }, + { + "type": { + "id": "HP:0002721", + "label": "Immunodeficiency" + } + }, + { + "type": { + "id": "HP:0004377", + "label": "Hematological neoplasm" + } + }, + { + "type": { + "id": "HP:0007550", + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyskeratosis_congenita_autosomal_dominant_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyskeratosis_congenita_autosomal_dominant_1_patient_1.json new file mode 100644 index 000000000..21dc75e28 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyskeratosis_congenita_autosomal_dominant_1_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "dyskeratosis_congenita,_autosomal_dominant,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001888", + "label": "Lymphopenia" + } + }, + { + "type": { + "id": "HP:0000939", + "label": "Osteoporosis" + } + }, + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0001596", + "label": "Alopecia" + } + }, + { + "type": { + "id": "HP:0002216", + "label": "Premature graying of hair" + } + }, + { + "type": { + "id": "HP:0001321", + "label": "Cerebellar hypoplasia" + } + }, 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyskeratosis_congenita_autosomal_recessive_6_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "dyskeratosis_congenita,_autosomal_recessive_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0031413", + "label": "Short telomere length" + } + }, + { + "type": { + "id": "HP:0001000", + "label": "Abnormality of skin pigmentation" + } + }, + { + "type": { + "id": "HP:0005528", + "label": "Bone marrow hypocellularity" + } + }, + { + "type": { + "id": "HP:0001321", + "label": "Cerebellar hypoplasia" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0008404", + "label": "Nail dystrophy" + } + }, + { + "type": { + "id": "HP:0005484", + "label": "Secondary microcephaly" + } + }, + { + "type": { + "id": "HP:0008846", + "label": "Severe intrauterine growth 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyskeratosis_congenita_autosomal_recessive_8_patient_1.json new file mode 100644 index 000000000..e3fb4f0e8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyskeratosis_congenita_autosomal_recessive_8_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "dyskeratosis_congenita,_autosomal_recessive_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005528", + "label": "Bone marrow hypocellularity" + } + }, + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0010975", + "label": "Abnormal B cell count" + } + }, + { + "type": { + "id": "HP:0010450", + "label": "Esophageal stenosis" + } + }, + { + "type": { + "id": "HP:0001915", + "label": "Aplastic anemia" + } + }, + { + "type": { + "id": "HP:0004768", + "label": "Sparse anterior scalp hair" + } + }, + { + "type": { + "id": "HP:0004386", + "label": "Gastrointestinal 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file mode 100644 index 000000000..165e05aaf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyskeratosis_hereditary_benign_intraepithelial_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "dyskeratosis,_hereditary_benign_intraepithelial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025337", + "label": "Red eye" + } + }, + { + "type": { + "id": "HP:0002745", + "label": "Oral leukoplakia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:127600", + "label": "Dyskeratosis, hereditary benign intraepithelial" + } + } + ], + "metaData": { + "created": "2024-06-12T01:40:54.817207Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyskinesia_with_orofacial_involvement_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..0b5808d79 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyskinesia_with_orofacial_involvement_autosomal_recessive_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "dyskinesia_with_orofacial_involvement,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000821", + "label": "Hypothyroidism" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0009062", + "label": "Infantile axial hypotonia" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0002359", + "label": "Frequent falls" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619647", + "label": "Dyskinesia with orofacial involvement, autosomal recessive" + } + } + ], + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyslexia_susceptibility_to_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dyslexia,_susceptibility_to,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010522", + "label": "Dyslexia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:127700", + "label": "Dyslexia, susceptibility to, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:53:10.464975Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyslexia_susceptibility_to_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyslexia_susceptibility_to_2_patient_1.json new file mode 100644 index 000000000..190947172 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyslexia_susceptibility_to_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dyslexia,_susceptibility_to,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010522", + "label": "Dyslexia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600202", + "label": "Dyslexia, susceptibility to, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:14:10.206943Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyslexia_susceptibility_to_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyslexia_susceptibility_to_8_patient_1.json new file mode 100644 index 000000000..efa5806a8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyslexia_susceptibility_to_8_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dyslexia,_susceptibility_to,_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010522", + "label": "Dyslexia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608995", + "label": "Dyslexia, susceptibility to, 8" + } + } + ], + "metaData": { + "created": "2024-06-11T20:35:49.115521Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dysostosis_multiplex_Ain_Naz_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dysostosis_multiplex_Ain_Naz_type_patient_1.json new file mode 100644 index 000000000..b4becd352 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dysostosis_multiplex_Ain_Naz_type_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "dysostosis_multiplex,_ain-naz_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006633", + "label": "Glenoid fossa hypoplasia" + } + }, + { + "type": { + "id": "HP:0002866", + "label": "Hypoplastic iliac wing" + } + }, + { + "type": { + "id": "HP:0001538", + "label": "Protuberant abdomen" + } + }, + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619345", + "label": "Dysostosis multiplex, Ain-Naz type" + } + } + ], + "metaData": { + "created": "2024-06-11T18:57:20.042592Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dysphasia_familial_developmental_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dysphasia_familial_developmental_patient_1.json new file mode 100644 index 000000000..28ada7232 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dysphasia_familial_developmental_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dysphasia,_familial_developmental", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002474", + "label": "Expressive language delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600117", + "label": "Dysphasia, familial developmental" + } + } + ], + "metaData": { + "created": "2024-06-11T19:46:39.847169Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dysplasia_epiphysealis_hemimelica_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dysplasia_epiphysealis_hemimelica_patient_1.json new file mode 100644 index 000000000..59fdd2b91 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dysplasia_epiphysealis_hemimelica_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dysplasia_epiphysealis_hemimelica", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001548", + "label": "Overgrowth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:127800", + "label": "Dysplasia epiphysealis hemimelica" + } + } + ], + "metaData": { + "created": "2024-06-11T18:17:13.282853Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyssegmental_dysplasia_Rolland_Desbuquois_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyssegmental_dysplasia_Rolland_Desbuquois_type_patient_1.json new file mode 100644 index 000000000..94b66d54c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyssegmental_dysplasia_Rolland_Desbuquois_type_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "dyssegmental_dysplasia,_rolland-desbuquois_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0002343", + "label": "Normal pressure hydrocephalus" + } + }, + { + "type": { + "id": "HP:0008921", + "label": "Neonatal short-limb short stature" + } + }, + { + "type": { + "id": "HP:0000309", + "label": "Abnormal midface morphology" + } + }, + { + "type": { + "id": "HP:0001181", + "label": "Adducted thumb" + } + }, + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + }, + { + "type": { + "id": "HP:0004233", + "label": "Advanced ossification of carpal bones" + } + }, + { + "type": { + "id": "HP:0006064", + "label": "Limited interphalangeal movement" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:224400", + "label": "Dyssegmental dysplasia, Rolland-Desbuquois type" + } + } + ], + "metaData": { + "created": "2024-06-12T01:24:01.950665Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyssegmental_dysplasia_Silverman_Handmaker_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyssegmental_dysplasia_Silverman_Handmaker_type_patient_1.json new file mode 100644 index 000000000..4f567cd9d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dyssegmental_dysplasia_Silverman_Handmaker_type_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "dyssegmental_dysplasia,_silverman-handmaker_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0002879", + "label": "Anisospondyly" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0011314", + "label": "Abnormal long bone morphology" + } + }, + { + "type": { + "id": "HP:0000765", + "label": "Abnormal thorax morphology" + } + }, + { + "type": { + "id": "HP:0003510", + "label": "Severe short stature" + } + }, + { + "type": { + "id": "HP:0007364", + "label": "Aplasia/Hypoplasia of the cerebrum" + } + }, + { + "type": { + "id": "HP:0008921", + "label": "Neonatal short-limb short stature" + } + }, + { + "type": { + "id": "HP:0008689", + "label": "Bilateral cryptorchidism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:224410", + "label": "Dyssegmental dysplasia, Silverman-Handmaker type" + } + } + ], + "metaData": { + "created": "2024-06-11T22:56:33.347036Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_11_myoclonic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_11_myoclonic_patient_1.json new file mode 100644 index 000000000..312ab63a8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_11_myoclonic_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "dystonia_11,_myoclonic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000473", + "label": "Torticollis" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0012462", + "label": "Chin myoclonus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:159900", + "label": "Dystonia 11, myoclonic" + } + } + ], + "metaData": { + "created": "2024-06-11T23:49:46.106877Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_12_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_12_patient_1.json new file mode 100644 index 000000000..b94a003ab --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_12_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "dystonia_12", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002307", + "label": "Drooling" + } + }, + { + "type": { + "id": "HP:0002483", + "label": "Bulbar signs" + } + }, + { + "type": { + "id": "HP:0000716", + "label": "Depression" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0002067", + "label": "Bradykinesia" + } + }, + { + "type": { + "id": "HP:0002464", + "label": "Spastic dysarthria" + } + }, + { + "type": { + "id": "HP:0000712", + "label": "Emotional lability" + } + }, + { + "type": { + "id": "HP:0000338", + "label": "Hypomimic face" + } + }, + { + "type": { + "id": "HP:0002172", + "label": "Postural instability" + } + }, + { + "type": { + "id": "HP:0025387", + "label": "Pill-rolling tremor" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:128235", + "label": "Dystonia 12" + } + } + ], + "metaData": { + "created": "2024-06-11T22:01:22.535775Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_13_torsion_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_13_torsion_patient_1.json new file mode 100644 index 000000000..537d46441 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_13_torsion_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "dystonia_13,_torsion", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012048", + "label": "Oromandibular dystonia" + } + }, + { + "type": { + "id": "HP:0002451", + "label": "Limb dystonia" + } + }, + { + "type": { + "id": "HP:0000473", + "label": "Torticollis" + } + }, + { + "type": { + "id": "HP:0001304", + "label": "Torsion dystonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607671", + "label": "Dystonia 13, torsion" + } + } + ], + "metaData": { + "created": "2024-06-11T21:28:19.760907Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_15_myoclonic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_15_myoclonic_patient_1.json new file mode 100644 index 000000000..c70f47ec3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_15_myoclonic_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "dystonia_15,_myoclonic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002356", + "label": "Writer's cramp" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607488", + "label": "Dystonia 15, myoclonic" + } + } + ], + "metaData": { + "created": "2024-06-11T22:09:48.570763Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_16_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_16_patient_1.json new file mode 100644 index 000000000..36638a55c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_16_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "dystonia_16", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002451", + "label": "Limb dystonia" + } + }, + { + "type": { + "id": "HP:0012049", + "label": "Laryngeal dystonia" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0007325", + "label": "Generalized dystonia" + } + }, + { + "type": { + "id": "HP:0002067", + "label": "Bradykinesia" + } + }, + { + "type": { + "id": "HP:0031957", + "label": "Spastic hemiparetic gait" + } + }, + { + "type": { + "id": "HP:0100660", + "label": "Dyskinesia" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0001618", + "label": "Dysphonia" + } + }, + { + "type": { + "id": "HP:0001300", + "label": "Parkinsonism" + } + }, + { + "type": { + "id": "HP:0002345", + "label": "Action tremor" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612067", + "label": "Dystonia 16" + } + } + ], + "metaData": { + "created": "2024-06-11T20:36:08.970148Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_17_torsion_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_17_torsion_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..b8029c89e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_17_torsion_autosomal_recessive_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dystonia_17,_torsion,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001618", + "label": "Dysphonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612406", + "label": "Dystonia 17, torsion, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T17:58:52.549349Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_1_torsion_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_1_torsion_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..0e57d4a0c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_1_torsion_autosomal_dominant_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "dystonia_1,_torsion,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002540", + "label": "Inability to walk" + } + }, + { + "type": { + "id": "HP:0001272", + "label": "Cerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0003438", + "label": "Absent Achilles reflex" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0002808", + "label": "Kyphosis" + } + }, + { + "type": { + "id": "HP:0002015", + "label": "Dysphagia" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0012048", + "label": "Oromandibular dystonia" + } + }, + { + "type": { + "id": "HP:0002828", + "label": "Multiple joint contractures" + } + }, + { + "type": { + "id": "HP:0025387", + "label": "Pill-rolling tremor" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0030319", + "label": "Weakness of facial musculature" + } + }, + { + "type": { + "id": "HP:0007325", + "label": "Generalized dystonia" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:128100", + "label": "Dystonia 1, torsion, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T18:51:03.653111Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_21_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_21_patient_1.json new file mode 100644 index 000000000..e0d0e0d9a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_21_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dystonia_21", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012049", + "label": "Laryngeal dystonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614588", + "label": "Dystonia 21" + } + } + ], + "metaData": { + "created": "2024-06-11T20:23:10.171326Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_22_adult_onset_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_22_adult_onset_patient_1.json new file mode 100644 index 000000000..cecc93f94 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_22_adult_onset_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "dystonia_22,_adult-onset", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000473", + "label": "Torticollis" + } + }, + { + "type": { + "id": "HP:0001268", + "label": "Mental deterioration" + } + }, + { + "type": { + "id": "HP:0002544", + "label": "Retrocollis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620456", + "label": "Dystonia 22, adult-onset" + } + } + ], + "metaData": { + "created": "2024-06-11T22:54:39.963292Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_22_juvenile_onset_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_22_juvenile_onset_patient_1.json new file mode 100644 index 000000000..13ae1c890 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_22_juvenile_onset_patient_1.json @@ -0,0 +1,86 @@ +{ + "id": "dystonia_22,_juvenile-onset", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P21Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + }, + { + "type": { + "id": "HP:0012049", + "label": "Laryngeal dystonia" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620453", + "label": "Dystonia 22, juvenile-onset" + } + } + ], + "metaData": { + "created": "2024-06-12T01:41:46.803020Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_23_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_23_patient_1.json new file mode 100644 index 000000000..dc55d78e1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_23_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "dystonia_23", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0002538", + "label": "Abnormal cerebral cortex morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614860", + "label": "Dystonia 23" + } + } + ], + "metaData": { + "created": "2024-06-11T23:27:46.117463Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_24_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_24_patient_1.json new file mode 100644 index 000000000..a735db270 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_24_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dystonia_24", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000473", + "label": "Torticollis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615034", + "label": "Dystonia 24" + } + } + ], + "metaData": { + "created": "2024-06-11T18:27:22.171940Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_25_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_25_patient_1.json new file mode 100644 index 000000000..5fcba043e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_25_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dystonia_25", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012049", + "label": "Laryngeal dystonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615073", + "label": "Dystonia 25" + } + } + ], + "metaData": { + "created": "2024-06-11T22:11:35.257761Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"Laryngeal dystonia" + } + }, + { + "type": { + "id": "HP:0001618", + "label": "Dysphonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616398", + "label": "Dystonia 26, myoclonic" + } + } + ], + "metaData": { + "created": "2024-06-11T19:37:50.682717Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_27_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_27_patient_1.json new file mode 100644 index 000000000..3b5fb19c9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_27_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "dystonia_27", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007351", + "label": "Upper limb postural tremor" + } + }, + { + "type": { + "id": "HP:0011442", + "label": "Abnormal central motor function" + } + }, + { + "type": { + "id": "HP:0012048", + "label": "Oromandibular dystonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616411", + "label": "Dystonia 27" + } + } + ], + "metaData": { + "created": "2024-06-11T20:47:47.697388Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_28_childhood_onset_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_28_childhood_onset_patient_1.json new file mode 100644 index 000000000..bde9aa80c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_28_childhood_onset_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "dystonia_28,_childhood-onset", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000483", + "label": "Astigmatism" + } + }, + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + } + }, + { + "type": { + "id": "HP:0030051", + "label": "Tip-toe gait" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0012179", + "label": "Craniofacial dystonia" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0012049", + "label": "Laryngeal dystonia" + } + }, + { + "type": { + "id": "HP:0025668", + "label": "Abnormal neck morphology" + } + }, + { + "type": { + "id": "HP:0012049", + "label": "Laryngeal dystonia" + }, + "modifiers": [ + { + "id": "HP:0012837", + "label": "Generalized" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617284", + "label": "Dystonia 28, childhood-onset" + } + } + ], + "metaData": { + "created": "2024-06-11T19:34:57.891892Z", + "createdBy": 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"dystonia_2,_torsion,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:224500", + "label": "Dystonia 2, torsion, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T21:51:52.867636Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_30_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_30_patient_1.json new file mode 100644 index 000000000..da018f7cd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_30_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "dystonia_30", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000473", + "label": "Torticollis" + } + }, + { + "type": { + "id": "HP:0031959", + "label": "Leg dystonia" + } + }, + { + "type": { + "id": "HP:0002356", + "label": "Writer's cramp" + } + }, + { + "type": { + "id": "HP:0004373", + "label": "Focal dystonia" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0100710", + "label": "Impulsivity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619291", + "label": "Dystonia 30" + } + } + ], + "metaData": { + "created": "2024-06-11T20:50:49.591422Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_31_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_31_patient_1.json new file mode 100644 index 000000000..203348a58 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_31_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "dystonia_31", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001300", + "label": "Parkinsonism" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0031960", + "label": "Arm dystonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619565", + "label": "Dystonia 31" + } + } + ], + "metaData": { + "created": "2024-06-11T23:21:12.306449Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_32_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_32_patient_1.json new file mode 100644 index 000000000..e089218ef --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_32_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "dystonia_32", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012753", + "label": "T2 hypointense basal ganglia" + } + }, + { + "type": { + "id": "HP:0002015", + "label": "Dysphagia" + } + }, + { + "type": { + "id": "HP:0012049", + "label": "Laryngeal dystonia" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0002283", + "label": "Global brain atrophy" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619637", + "label": "Dystonia 32" + } + } + ], + "metaData": { + "created": "2024-06-11T18:52:50.156899Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_33_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_33_patient_1.json new file mode 100644 index 000000000..097889837 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_33_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "dystonia_33", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0031960", + "label": "Arm dystonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619687", + "label": "Dystonia 33" + } + } + ], + "metaData": { + "created": "2024-06-11T19:51:45.787550Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_34_myoclonic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_34_myoclonic_patient_1.json new file mode 100644 index 000000000..1c0a64186 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_34_myoclonic_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "dystonia_34,_myoclonic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000473", + "label": "Torticollis" + } + }, + { + "type": { + "id": "HP:0031629", + "label": "Impaired tandem gait" + } + }, + { + "type": { + "id": "HP:0002378", + "label": "Hand tremor" + } + }, + { + "type": { + "id": "HP:0002356", + "label": "Writer's cramp" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0001583", + "label": "Rotary nystagmus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619724", + "label": "Dystonia 34, myoclonic" + } + } + ], + "metaData": { + "created": "2024-06-11T19:53:28.663344Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_35_childhood_onset_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_35_childhood_onset_patient_1.json new file mode 100644 index 000000000..70e5c15e1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_35_childhood_onset_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "dystonia_35,_childhood-onset", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619921", + "label": "Dystonia 35, childhood-onset" + } + } + ], + "metaData": { + "created": "2024-06-11T21:11:15.741001Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_37_early_onset_with_striatal_lesions_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_37_early_onset_with_striatal_lesions_patient_1.json new file mode 100644 index 000000000..ac464cb47 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_37_early_onset_with_striatal_lesions_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "dystonia_37,_early-onset,_with_striatal_lesions", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0007326", + "label": "Progressive choreoathetosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620427", + "label": "Dystonia 37, early-onset, with striatal lesions" + } + } + ], + "metaData": { + "created": "2024-06-11T22:02:14.549237Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_3_torsion_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_3_torsion_X_linked_patient_1.json new file mode 100644 index 000000000..30a923b44 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_3_torsion_X_linked_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "dystonia_3,_torsion,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001304", + "label": "Torsion dystonia" + } + }, + { + "type": { + "id": "HP:0002548", + "label": "Parkinsonism with favorable response to dopaminergic medication" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:314250", + "label": "Dystonia 3, torsion, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T18:43:35.473406Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_4_torsion_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_4_torsion_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..699648a86 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_4_torsion_autosomal_dominant_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "dystonia_4,_torsion,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001304", + "label": "Torsion dystonia" + } + }, + { + "type": { + "id": "HP:0000275", + "label": "Narrow face" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:128101", + "label": "Dystonia 4, torsion, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T18:37:57.299078Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_6_torsion_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_6_torsion_patient_1.json new file mode 100644 index 000000000..be8eb17f5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_6_torsion_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "dystonia_6,_torsion", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031960", + "label": "Arm dystonia" + } + }, + { + "type": { + "id": "HP:0012048", + "label": "Oromandibular dystonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602629", + "label": "Dystonia 6, torsion" + } + } + ], + "metaData": { + "created": "2024-06-11T17:58:31.857276Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_7_torsion_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_7_torsion_patient_1.json new file mode 100644 index 000000000..cbc68a4aa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_7_torsion_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "dystonia_7,_torsion", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002378", + "label": "Hand tremor" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602124", + "label": "Dystonia 7, torsion" + } + } + ], + "metaData": { + "created": "2024-06-11T21:12:03.188444Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_9_patient_1.json new file mode 100644 index 000000000..1fb803f91 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_9_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "dystonia_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001266", + "label": "Choreoathetosis" + } + }, + { + "type": { + "id": "HP:0002131", + "label": "Episodic ataxia" + } + }, + { + "type": { + "id": "HP:0002077", + "label": "Migraine with aura" + } + }, + { + "type": { + "id": "HP:0007365", + "label": "Aplasia/Hypoplasia involving the corticospinal tracts" + } + }, + { + "type": { + "id": "HP:0007020", + "label": "Progressive spastic paraplegia" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601042", + "label": "Dystonia 9" + } + } + ], + "metaData": { + "created": "2024-06-11T18:04:22.409645Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_DOPA_responsive_with_or_without_hyperphenylalaninemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_DOPA_responsive_with_or_without_hyperphenylalaninemia_patient_1.json new file mode 100644 index 000000000..0289fbb0a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_DOPA_responsive_with_or_without_hyperphenylalaninemia_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "dystonia,_dopa-responsive,_with_or_without_hyperphenylalaninemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0002075", + "label": "Dysdiadochokinesis" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0002356", + "label": "Writer's cramp" + } + }, + { + "type": { + "id": "HP:0025668", + "label": "Abnormal neck morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:128230", + "label": "Dystonia, DOPA-responsive, with or without 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index 000000000..d4c0daa52 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_childhood_onset_with_optic_atrophy_and_basal_ganglia_abnormalities_patient_1.json @@ -0,0 +1,128 @@ +{ + "id": "dystonia,_childhood-onset,_with_optic_atrophy_and_basal_ganglia_abnormalities", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P6Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100660", + "label": "Dyskinesia" + } + }, + { + "type": { + "id": "HP:0012179", + "label": "Craniofacial dystonia" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0002063", + "label": "Rigidity" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0003121", + "label": "Limb joint contracture" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0002015", + "label": "Dysphagia" + } + }, + { + "type": { + "id": "HP:0002305", + "label": "Athetosis" + } + }, + { + "type": { + "id": "HP:0007326", + "label": "Progressive choreoathetosis" + } + }, + { + "type": { + "id": "HP:0010867", + "label": "Dyssynergia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617282", + "label": "Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities" + } + } + ], + "metaData": { + "created": "2024-06-11T20:28:10.070127Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_dopa_responsive_due_to_sepiapterin_reductase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_dopa_responsive_due_to_sepiapterin_reductase_deficiency_patient_1.json new file mode 100644 index 000000000..bbf7cd8e0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_dopa_responsive_due_to_sepiapterin_reductase_deficiency_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "dystonia,_dopa-responsive,_due_to_sepiapterin_reductase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_early_onset_and_or_spastic_paraplegia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_early_onset_and_or_spastic_paraplegia_patient_1.json new file mode 100644 index 000000000..c8755e3db --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_early_onset_and_or_spastic_paraplegia_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "dystonia,_early-onset,_and/or_spastic_paraplegia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0001324", + "label": "Muscle weakness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619681", + "label": "Dystonia, early-onset, and/or spastic paraplegia" + } + } + ], + "metaData": { + "created": "2024-06-11T20:45:04.847378Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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{ + "id": "HP:0002356", + "label": "Writer's cramp" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611284", + "label": "Dystonia, focal, task-specific" + } + } + ], + "metaData": { + "created": "2024-06-11T18:13:24.546519Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_juvenile_onset_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_juvenile_onset_patient_1.json new file mode 100644 index 000000000..7a71f4b33 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystonia_juvenile_onset_patient_1.json @@ -0,0 +1,128 @@ +{ + "id": "dystonia,_juvenile-onset", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P39Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011342", + "label": "Mild global developmental delay" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0031959", + "label": "Leg dystonia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0012638", + "label": 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"2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystransthyretinemic_euthyroidal_hyperthyroxinemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystransthyretinemic_euthyroidal_hyperthyroxinemia_patient_1.json new file mode 100644 index 000000000..8628f42ad --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Dystransthyretinemic_euthyroidal_hyperthyroxinemia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "dystransthyretinemic_euthyroidal_hyperthyroxinemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008247", + "label": "Euthyroid hyperthyroxinemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:145680", + "label": "Dystransthyretinemic euthyroidal hyperthyroxinemia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:32:04.087818Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/ECTRODACTYLY_POLYDACTYLY_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/ECTRODACTYLY_POLYDACTYLY_patient_1.json new file mode 100644 index 000000000..47399c301 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/ECTRODACTYLY_POLYDACTYLY_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ectrodactyly-polydactyly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001839", + "label": "Split foot" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:225290", + "label": "ECTRODACTYLY-POLYDACTYLY" + } + } + ], + "metaData": { + "created": "2024-06-12T02:15:28.398696Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/ENDOCRINE_CEREBROOSTEODYSPLASIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/ENDOCRINE_CEREBROOSTEODYSPLASIA_patient_1.json new file mode 100644 index 000000000..c92321417 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/ENDOCRINE_CEREBROOSTEODYSPLASIA_patient_1.json @@ -0,0 +1,147 @@ +{ + "id": "endocrine-cerebroosteodysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009755", + "label": "Ankyloblepharon" + } + }, + { + "type": { + "id": "HP:0003956", + "label": "Bowed forearm bones" + } + }, + { + "type": { + "id": "HP:0002983", + "label": "Micromelia" + } + }, + { + "type": { + "id": "HP:0001852", + "label": "Sandal gap" + } + }, + { + "type": { + "id": "HP:0030260", + "label": "Microphallus" + } + }, + { + "type": { + "id": "HP:0001360", + "label": "Holoprosencephaly" + } + }, + { + "type": { + "id": "HP:0000490", + "label": "Deeply set eye" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + } + }, + { + "type": { + "id": "HP:0009099", + "label": "Median cleft palate" + } + }, + { + "type": { + "id": "HP:0000161", + "label": "Median cleft upper lip" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0100336", + "label": "Bilateral cleft lip" + } + }, + { + "type": { + "id": "HP:0001159", + "label": "Syndactyly" + } + }, + { + "type": { + "id": "HP:0005349", + "label": "Hypoplasia of the epiglottis" + } + }, + { + "type": { + "id": "HP:0000046", + "label": "Small scrotum" + } + }, + { + "type": { + "id": "HP:0005696", + "label": "Postaxial polydactyly type A" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612651", + "label": "ENDOCRINE-CEREBROOSTEODYSPLASIA" + } + } + ], + "metaData": { + "created": "2024-06-11T21:43:26.862916Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/ENDOVE_syndrome_limb_brain_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/ENDOVE_syndrome_limb_brain_type_patient_1.json new file mode 100644 index 000000000..c854081db --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/ENDOVE_syndrome_limb_brain_type_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "endove_syndrome,_limb-brain_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012642", + "label": "Cerebellar agenesis" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0011167", + "label": "Focal tonic seizure" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0030884", + "label": "Gastrojejunal tube feeding in infancy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619218", + "label": "ENDOVE syndrome, limb-brain type" + } + } + ], + "metaData": { + "created": "2024-06-11T19:14:31.086872Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/EOSINOPHILOPENIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/EOSINOPHILOPENIA_patient_1.json new file mode 100644 index 000000000..8916522a0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/EOSINOPHILOPENIA_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "eosinophilopenia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002960", + "label": "Autoimmunity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:131430", + "label": "EOSINOPHILOPENIA" + } + } + ], + "metaData": { + "created": "2024-06-11T20:45:33.639762Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/EPILEPSY_TELANGIECTASIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/EPILEPSY_TELANGIECTASIA_patient_1.json new file mode 100644 index 000000000..b954c2e7a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/EPILEPSY_TELANGIECTASIA_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "epilepsy-telangiectasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000524", + "label": "Conjunctival telangiectasia" + } + }, + { + "type": { + "id": "HP:0001939", + "label": "Abnormality of metabolism/homeostasis" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:226850", + "label": "EPILEPSY-TELANGIECTASIA" + } + } + ], + "metaData": { + "created": "2024-06-11T21:43:53.755074Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/ERI1_related_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/ERI1_related_disease_patient_1.json new file mode 100644 index 000000000..630c9f95b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/ERI1_related_disease_patient_1.json @@ -0,0 +1,303 @@ +{ + "id": "eri1-related_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002099", + "label": "Asthma" + } + }, + { + "type": { + "id": "HP:0000280", + "label": "Coarse facial features" + } + }, + { + "type": { + "id": "HP:0001611", + "label": "Hypernasal speech" + } + }, + { + "type": { + "id": "HP:0001182", + "label": "Tapered finger" + } + }, + { + "type": { + "id": "HP:0000275", + "label": "Narrow face" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000248", + "label": "Brachycephaly" + } + }, + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0003083", + "label": "Dislocated radial head" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0004209", + "label": "Clinodactyly of the 5th finger" + } + }, + { + "type": { + "id": "HP:0000774", + "label": "Narrow chest" + } + }, + { + "type": { + "id": "HP:0000076", + "label": "Vesicoureteral reflux" + } + }, + { + "type": { + "id": "HP:0000126", + "label": "Hydronephrosis" + } + }, + { + "type": { + "id": "HP:0001377", + "label": "Limited elbow extension" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0002092", + "label": "Pulmonary arterial hypertension" + } + }, + { + "type": { + "id": "HP:0009826", + "label": "Limb undergrowth" + } + }, + { + "type": { + "id": "HP:0000405", + "label": "Conductive hearing impairment" + } + }, + { + "type": { + "id": "HP:0001159", + "label": "Syndactyly" + } + }, + { + "type": { + "id": "HP:0001763", + "label": "Pes planus" + } + }, + { + "type": { + "id": "HP:0005180", + "label": "Tricuspid regurgitation" + } + }, + { + "type": { + "id": "HP:0000023", + "label": "Inguinal hernia" + } + }, + { + "type": { + "id": "HP:0000294", + "label": "Low anterior hairline" + } + }, + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + }, + { + "type": { + "id": "HP:0012165", + "label": "Oligodactyly" + } + }, + { + "type": { + "id": "HP:0000220", + "label": "Velopharyngeal insufficiency" + } + }, + { + "type": { + "id": "HP:0000341", + "label": "Narrow forehead" + } + }, + { + "type": { + "id": "HP:0000276", + "label": "Long face" + } + }, + { + "type": { + "id": "HP:0006236", + "label": "Slender metacarpals" + } + }, + { + "type": { + "id": "HP:0000400", + "label": "Macrotia" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0007627", + "label": "Mandibular condyle aplasia" + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + }, + { + "type": { + "id": "HP:0030838", + "label": "Hip pain" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:0003397", + "label": "Generalized hypotonia due to defect at the neuromuscular junction" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + }, + { + "type": { + "id": "HP:0002296", + "label": "Progressive hypotrichosis" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0011682", + "label": "Perimembranous ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0010554", + "label": "Cutaneous finger syndactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608739", + "label": "ERI1-related disease" + } + } + ], + "metaData": { + "created": "2024-06-11T19:18:11.210178Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ear_antitragus_tag_at_base_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ear_antitragus_tag_at_base_of_patient_1.json new file mode 100644 index 000000000..6502b4d12 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ear_antitragus_tag_at_base_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ear_antitragus,_tag_at_base_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000598", + "label": "Abnormality of the ear" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:128290", + "label": "Ear antitragus, tag at base of" + } + } + ], + "metaData": { + "created": "2024-06-11T23:15:11.595283Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ear_exostoses_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ear_exostoses_patient_1.json new file mode 100644 index 000000000..e48232f3e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ear_exostoses_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "ear_exostoses", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0410017", + "label": "Otitis externa" + } + }, + { + "type": { + "id": "HP:0030788", + "label": "Impacted cerumen" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:128300", + "label": "Ear exostoses" + } + } + ], + "metaData": { + "created": "2024-06-11T18:59:40.855564Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ear_folding_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ear_folding_patient_1.json new file mode 100644 index 000000000..c518d261c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ear_folding_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ear_folding", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000598", + "label": "Abnormality of the ear" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:128500", + "label": "Ear folding" + } + } + ], + "metaData": { + "created": "2024-06-11T18:17:53.030286Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ear_malformation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ear_malformation_patient_1.json new file mode 100644 index 000000000..a6a84b70c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ear_malformation_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ear_malformation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000598", + "label": "Abnormality of the ear" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:128600", + "label": "Ear malformation" + } + } + ], + "metaData": { + "created": "2024-06-11T20:08:03.821263Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ear_pits_posterior_helical_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ear_pits_posterior_helical_patient_1.json new file mode 100644 index 000000000..90dc95e16 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ear_pits_posterior_helical_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ear_pits,_posterior_helical", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008523", + "label": "Posterior helix pit" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:128710", + "label": "Ear pits, posterior helical" + } + } + ], + "metaData": { + "created": "2024-06-11T19:06:28.370672Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ear_without_helix_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ear_without_helix_patient_1.json new file mode 100644 index 000000000..7f0c11405 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ear_without_helix_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ear_without_helix", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011039", + "label": "Abnormal helix morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:128800", + "label": "Ear without helix" + } + } + ], + "metaData": { + "created": "2024-06-11T22:36:22.579038Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Earlobes_thickened_with_conductive_deafness_from_incudostapedialabnormalities_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Earlobes_thickened_with_conductive_deafness_from_incudostapedialabnormalities_patient_1.json new file mode 100644 index 000000000..763d9aff4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Earlobes_thickened_with_conductive_deafness_from_incudostapedialabnormalities_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "earlobes,_thickened,_with_conductive_deafness_from_incudostapedialabnormalities", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008591", + "label": "Congenital conductive hearing impairment" + } + }, + { + "type": { + "id": "HP:0004452", + "label": "Abnormality of the middle ear ossicles" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:128980", + "label": "Earlobes, thickened, with conductive deafness from incudostapedialabnormalities" + } + } + ], + "metaData": { + "created": "2024-06-11T20:23:05.273823Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Earring_holes_natural_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Earring_holes_natural_patient_1.json new file mode 100644 index 000000000..80a270dc7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Earring_holes_natural_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "earring_holes,_natural", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004461", + "label": "Congenital earlobe sinuses" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:129000", + "label": "Earring holes, natural" + } + } + ], + "metaData": { + "created": "2024-06-11T23:31:23.271198Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ebstein_anomaly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ebstein_anomaly_patient_1.json new file mode 100644 index 000000000..4cce2c169 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ebstein_anomaly_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "ebstein_anomaly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010316", + "label": "Ebstein anomaly of the tricuspid valve" + } + }, 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Echo_virus_11_sensitivity_patient_1.json new file mode 100644 index 000000000..c88adc162 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Echo_virus_11_sensitivity_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "echo_virus_11_sensitivity", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002715", + "label": "Abnormality of the immune system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:129150", + "label": "Echo virus 11 sensitivity" + } + } + ], + "metaData": { + "created": "2024-06-11T18:18:21.592805Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + 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} +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_11A_hypohidrotic_hair_tooth_type_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_11A_hypohidrotic_hair_tooth_type_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..a41d8dd9a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_11A_hypohidrotic_hair_tooth_type_autosomal_dominant_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "ectodermal_dysplasia_11a,_hypohidrotic/hair/tooth_type,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002299", + "label": "Brittle hair" + } + }, + { + "type": { + "id": "HP:0000970", + "label": "Anhidrosis" + } + }, + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_11B_hypohidrotic_hair_tooth_type_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..7cac35555 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_11B_hypohidrotic_hair_tooth_type_autosomal_recessive_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "ectodermal_dysplasia_11b,_hypohidrotic/hair/tooth_type,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002209", + "label": "Sparse scalp hair" + } + }, + { + "type": { + "id": "HP:0000561", + "label": "Absent eyelashes" + } + }, + { + "type": { + "id": "HP:0012384", + "label": "Rhinitis" + } + }, + { + "type": { + "id": "HP:0000968", + "label": "Ectodermal dysplasia" + } + }, + { + "type": { + "id": "HP:0000607", + "label": "Periorbital wrinkles" + } + }, + { + "type": { + "id": "HP:0000958", + "label": "Dry skin" + } + }, + { + "type": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_13_Hair_tooth_type_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "ectodermal_dysplasia_13,_hair/tooth_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000653", + "label": "Sparse eyelashes" + } + }, + { + "type": { + "id": "HP:0002299", + "label": "Brittle hair" + } + }, + { + "type": { + "id": "HP:0045074", + "label": "Thin eyebrow" + } + }, + { + "type": { + "id": "HP:0000294", + "label": "Low anterior hairline" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617392", + "label": "Ectodermal dysplasia 13, Hair/tooth type" + } + } + ], + "metaData": { + "created": "2024-06-11T17:44:31.859494Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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"subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000966", + "label": "Hypohidrosis" + } + }, + { + "type": { + "id": "HP:0000698", + "label": "Conical tooth" + } + }, + { + "type": { + "id": "HP:0000300", + "label": "Oval face" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618180", + "label": "Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:02.042889Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_15_Hypohidrotic_hair_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_15_Hypohidrotic_hair_type_patient_1.json new file mode 100644 index 000000000..f7273374b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_15_Hypohidrotic_hair_type_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "ectodermal_dysplasia_15,_hypohidrotic/hair_type", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P4Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000989", + "label": "Pruritus" + } + }, + { + "type": { + "id": "HP:0000964", + "label": "Eczematoid dermatitis" + } + }, + { + "type": { + "id": "HP:0007550", + "label": "Hypohidrosis or hyperhidrosis" + } + } + ], + "diseases": [ + { + "term": { + 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000000000..b4cb916f4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_1_hypohidrotic_X_linked_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "ectodermal_dysplasia_1,_hypohidrotic,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008070", + "label": "Sparse hair" + } + }, + { + "type": { + "id": "HP:0000958", + "label": "Dry skin" + } + }, + { + "type": { + "id": "HP:0002223", + "label": "Absent eyebrow" + } + }, + { + "type": { + "id": "HP:0012471", + "label": "Thick vermilion border" + } + }, + { + "type": { + "id": "HP:0002019", + "label": "Constipation" + } + }, + { + "type": { + "id": "HP:0000668", + "label": "Hypodontia" + } + }, + { + "type": { + "id": "HP:0002046", + "label": "Heat intolerance" + } + }, + { + "type": { + "id": "HP:0000607", + "label": "Periorbital wrinkles" + } + }, + { + "type": { + "id": "HP:0001945", + "label": "Fever" + } + }, + { + "type": { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_5_Hair_nail_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_5_Hair_nail_type_patient_1.json new file mode 100644 index 000000000..293517a58 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_5_Hair_nail_type_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "ectodermal_dysplasia_5,_hair/nail_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007436", + "label": "Hair-nail ectodermal dysplasia" + } + }, + { + "type": { + "id": "HP:0008386", + "label": "Aplasia/Hypoplasia of the nails" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614927", + "label": "Ectodermal dysplasia 5, Hair/nail type" + } + } + ], + "metaData": { + "created": "2024-06-11T19:12:31.273790Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0011362", + "label": "Abnormal hair quantity" + } + }, + { + "type": { + "id": "HP:0007436", + "label": "Hair-nail ectodermal dysplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614928", + "label": "Ectodermal dysplasia 6, Hair/nail type" + } + } + ], + "metaData": { + "created": "2024-06-11T23:18:51.563190Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_7_Hair_nail_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_7_Hair_nail_type_patient_1.json new file mode 100644 index 000000000..14d0f3c9f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_7_Hair_nail_type_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "ectodermal_dysplasia_7,_hair/nail_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000653", + "label": "Sparse eyelashes" + } + }, + { + "type": { + "id": "HP:0004768", + "label": "Sparse anterior scalp hair" + } + }, + { + "type": { + "id": "HP:0008388", + "label": "Abnormal toenail morphology" + } + }, + { + "type": { + "id": "HP:0007436", + "label": "Hair-nail ectodermal dysplasia" + } + }, + { + "type": { + "id": "HP:0002299", + "label": "Brittle hair" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614929", 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_8_Hair_tooth_nail_type_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "ectodermal_dysplasia_8,_hair/tooth/nail_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040079", + "label": "Irregular dentition" + } + }, + { + "type": { + "id": "HP:0006483", + "label": "Abnormal number of teeth" + } + }, + { + "type": { + "id": "HP:0000675", + "label": "Macrodontia of permanent maxillary central incisor" + } + }, + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + }, + { + "type": { + "id": "HP:0040056", + "label": "Absent upper eyelashes" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602401", + "label": "Ectodermal dysplasia 8, Hair/tooth/nail type" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_9_Hair_nail_type_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "ectodermal_dysplasia_9,_hair/nail_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008404", + "label": "Nail dystrophy" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000561", + "label": "Absent eyelashes" + } + }, + { + "type": { + "id": "HP:0001595", + "label": "Abnormal hair morphology" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614931", + "label": "Ectodermal dysplasia 9, Hair/nail type" + } + } + ], + "metaData": { + "created": "2024-06-11T18:43:28.177009Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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000000000..49c69d638 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_skin_fragility_syndrome_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "ectodermal_dysplasia/skin_fragility_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000972", + "label": "Palmoplantar hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0000561", + "label": "Absent eyelashes" + } + }, + { + "type": { + "id": "HP:0008070", + "label": "Sparse hair" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604536", + "label": "Ectodermal dysplasia/skin fragility syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:51:30.573046Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_with_adrenal_cyst_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_with_adrenal_cyst_patient_1.json new file mode 100644 index 000000000..c3ab03eb8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_with_adrenal_cyst_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "ectodermal_dysplasia_with_adrenal_cyst", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003187", + "label": "Breast hypoplasia" + } + }, + { + "type": { + "id": "HP:0000818", + "label": "Abnormality of the endocrine system" + } + }, + { + "type": { + "id": "HP:0007550", + "label": "Hypohidrosis or hyperhidrosis" + } + }, + { + "type": { + "id": "HP:0002557", + "label": "Hypoplastic nipples" + } + }, + { + "type": { + "id": "HP:0002164", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_with_facial_dysmorphism_and_acral_ocular_and_brain_anomalies_somatic_mosaic_patient_1.json new file mode 100644 index 000000000..48c9fc713 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_with_facial_dysmorphism_and_acral_ocular_and_brain_anomalies_somatic_mosaic_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "ectodermal_dysplasia_with_facial_dysmorphism_and_acral,_ocular,_and_brain_anomalies,_somatic_mosaic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000324", + "label": "Facial asymmetry" + } + }, + { + "type": { + "id": "HP:0000677", + "label": "Oligodontia" + } + }, + { + "type": { + "id": "HP:0010055", + "label": "Broad hallux" + } + }, + { + "type": { + "id": "HP:0006335", + "label": "Persistence of primary teeth" + } + }, + { + "type": { + "id": "HP:0000698", + "label": "Conical tooth" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000691", + "label": "Microdontia" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0000501", + "label": "Glaucoma" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0005831", + "label": "Type B brachydactyly" + } + }, + { + "type": { + "id": "HP:0011332", + "label": "Hemifacial hypoplasia" + } + }, + { + "type": { + "id": "HP:0009928", + "label": "Thick nasal alae" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618727", + "label": "Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_with_mental_retardation_and_syndactyly_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "ectodermal_dysplasia_with_mental_retardation_and_syndactyly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000598", + "label": "Abnormality of the ear" + } + }, + { + "type": { + "id": "HP:0034012", + "label": "Palmoplantar hypohidrosis" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + }, + { + "type": { + "id": "HP:0000534", + "label": "Abnormal eyebrow morphology" + } + }, + { + "type": { + "id": "HP:0200096", + "label": "Triangular-shaped open mouth" + } + }, + { + "type": { + "id": "HP:0007529", + "label": "Hidrotic ectodermal dysplasia" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0004691", + "label": "2-3 toe syndactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600906", + "label": "Ectodermal dysplasia with mental retardation and syndactyly" + } + } + ], + "metaData": { + "created": "2024-06-11T22:01:12.070014Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_with_natal_teeth_Turnpenny_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_with_natal_teeth_Turnpenny_type_patient_1.json new file mode 100644 index 000000000..2768a2537 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectodermal_dysplasia_with_natal_teeth_Turnpenny_type_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "ectodermal_dysplasia_with_natal_teeth,_turnpenny_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001597", + "label": "Abnormality of the nail" + } + }, + { + "type": { + "id": "HP:0000968", + "label": "Ectodermal dysplasia" + } + }, + { + "type": { + "id": "HP:0007515", + "label": "Hypoplastic pilosebaceous units" + } + }, + { + "type": { + "id": "HP:0000668", + "label": "Hypodontia" + } + }, + { + "type": { + "id": "HP:0004437", + "label": "Cranial hyperostosis" + } + }, + { + "type": { + "id": "HP:0100038", + "label": "Slow-growing scalp hair" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0000956", + "label": "Acanthosis nigricans" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601345", + "label": "Ectodermal dysplasia with natal teeth, Turnpenny type" + } + } + ], + "metaData": { + "created": "2024-06-11T20:29:46.139812Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectopia_lentis_et_pupillae_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectopia_lentis_et_pupillae_patient_1.json new file mode 100644 index 000000000..0a421a8e4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectopia_lentis_et_pupillae_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ectopia_lentis_et_pupillae", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009918", + "label": "Ectopia pupillae" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:225200", + "label": "Ectopia lentis et pupillae" + } + } + ], + "metaData": { + "created": "2024-06-11T19:38:58.542750Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectopia_lentis_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectopia_lentis_familial_patient_1.json new file mode 100644 index 000000000..885822981 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectopia_lentis_familial_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "ectopia_lentis,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030961", + "label": "Microspherophakia" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0000541", + "label": "Retinal detachment" + } + }, + { + "type": { + "id": "HP:0001065", + "label": "Striae distensae" + } + }, + { + "type": { + "id": "HP:0031716", + "label": "Cyclic exotropia" + } + }, + { + "type": { + "id": "HP:0001166", + "label": "Arachnodactyly" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0012019", + "label": "Lens luxation" + } + }, + { + "type": { + "id": "HP:0004764", + "label": "Myxomatous mitral valve degeneration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:129600", + "label": "Ectopia lentis, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T22:53:14.095576Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + 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"resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectopia_pupillae_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectopia_pupillae_patient_1.json new file mode 100644 index 000000000..e039180bf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectopia_pupillae_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ectopia_pupillae", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009918", + "label": "Ectopia pupillae" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:129750", + "label": "Ectopia pupillae" + } + } + ], + "metaData": { + "created": "2024-06-11T18:57:50.178160Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectrodactyly_ectodermal_dysplasia_and_cleft_lip_palate_syndrome1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectrodactyly_ectodermal_dysplasia_and_cleft_lip_palate_syndrome1_patient_1.json new file mode 100644 index 000000000..30d3ce17b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectrodactyly_ectodermal_dysplasia_and_cleft_lip_palate_syndrome1_patient_1.json @@ -0,0 +1,171 @@ +{ + "id": "ectrodactyly,_ectodermal_dysplasia,_and_cleft_lip/palate_syndrome1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0002286", + "label": "Fair hair" + } + }, + { + "type": { + "id": "HP:0001171", + "label": "Split hand" + } + }, + { + "type": { + "id": "HP:0000076", + "label": "Vesicoureteral reflux" + } + }, + { + "type": { + "id": "HP:0000104", + "label": "Renal agenesis" + } + }, + { + "type": { + "id": "HP:0000126", + "label": "Hydronephrosis" + } + }, + { + "type": { + "id": "HP:0000143", + "label": 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"HP:0012373", + "label": "Abnormal eye physiology" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0031093", + "label": "Abnormal breast morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:129900", + "label": "Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:41:18.263214Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectrodactyly_ectodermal_dysplasia_and_cleft_lip_palate_syndrome_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectrodactyly_ectodermal_dysplasia_and_cleft_lip_palate_syndrome_3_patient_1.json new file mode 100644 index 000000000..a71598c97 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ectrodactyly_ectodermal_dysplasia_and_cleft_lip_palate_syndrome_3_patient_1.json @@ -0,0 +1,159 @@ +{ + "id": "ectrodactyly,_ectodermal_dysplasia,_and_cleft_lip/palate_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000198", + "label": "Absence of Stensen duct" + } + }, + { + "type": { + "id": "HP:0001770", + "label": "Toe syndactyly" + } + }, + { + "type": { + "id": "HP:0000217", + "label": "Xerostomia" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Edema_familial_idiopathic_prepubertal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Edema_familial_idiopathic_prepubertal_patient_1.json new file mode 100644 index 000000000..a6d971c10 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Edema_familial_idiopathic_prepubertal_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "edema,_familial_idiopathic,_prepubertal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000969", + "label": "Edema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:129840", + "label": "Edema, familial idiopathic, prepubertal" + } + } + ], + "metaData": { + "created": "2024-06-11T22:30:40.915987Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Eiken_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Eiken_syndrome_patient_1.json new file mode 100644 index 000000000..5081324c9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Eiken_syndrome_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "eiken_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003275", + "label": "Narrow pelvis bone" + } + }, + { + "type": { + "id": "HP:0000706", + "label": "Eruption failure" + } + }, + { + "type": { + "id": "HP:0003071", + "label": "Flattened epiphysis" + } + }, + { + "type": { + "id": "HP:0002373", + "label": "Febrile seizure (within the age range of 3 months to 6 years)" + } + }, + { + "type": { + "id": "HP:0006335", + "label": "Persistence of primary teeth" + } + }, + { + "type": { + "id": "HP:0003180", + "label": "Flat acetabular roof" + } + }, + { + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Electroencephalographic_peculiarity_14_and_6_per_sec_positive_spikephenomenon_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Electroencephalographic_peculiarity_14_and_6_per_sec_positive_spikephenomenon_patient_1.json new file mode 100644 index 000000000..66438cc0a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Electroencephalographic_peculiarity_14_and_6_per_sec_positive_spikephenomenon_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "electroencephalographic_peculiarity:_14_and_6_per_sec._positive_spikephenomenon", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002353", + "label": "EEG abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:130200", + "label": "Electroencephalographic peculiarity: 14 and 6 per sec. positive spikephenomenon" + } + } + ], + "metaData": { + "created": "2024-06-11T19:20:44.672268Z", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Electroencephalographic_peculiarity_fronto_precentral_beta_wave_groups_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "electroencephalographic_peculiarity:_fronto-precentral_beta_wave_groups", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002353", + "label": "EEG abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:130300", + "label": "Electroencephalographic peculiarity: fronto-precentral beta wave groups" + } + } + ], + "metaData": { + "created": "2024-06-11T20:28:23.805607Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Elliptocytosis_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Elliptocytosis_1_patient_1.json new file mode 100644 index 000000000..bd11c5d96 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Elliptocytosis_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "elliptocytosis_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001878", + "label": "Hemolytic anemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611804", + "label": "Elliptocytosis 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:33:58.640317Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ellis_Van_creveld_syndrome_patient_1.json new file mode 100644 index 000000000..736d3d88a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ellis_Van_creveld_syndrome_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "ellis-van_creveld_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000684", + "label": "Delayed eruption of teeth" + } + }, + { + "type": { + "id": "HP:0000768", + "label": "Pectus carinatum" + } + }, + { + "type": { + "id": "HP:0000773", + "label": "Short ribs" + } + }, + { + "type": { + "id": "HP:0010454", + "label": "Acetabular spurs" + } + }, + { + "type": { + "id": "HP:0000039", + "label": "Epispadias" + } + }, + { + "type": { + "id": "HP:0003026", + "label": "Short long bone" + } + }, + { + "type": { + "id": "HP:0000695", + "label": "Natal tooth" + } + }, + { + "type": { + "id": "HP:0000047", + "label": "Hypospadias" + } + }, + { + "type": { + "id": "HP:0000968", + "label": "Ectodermal dysplasia" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0001241", + "label": "Capitate-hamate fusion" + } + }, + { + "type": { + "id": "HP:0002866", + "label": "Hypoplastic iliac wing" + } + }, + { + "type": { + "id": "HP:0001162", + "label": "Postaxial hand polydactyly" + } + }, + { + "type": { + "id": "HP:0000204", + "label": "Cleft upper lip" + } + }, + { + "type": { + "id": "HP:0005930", + "label": "Abnormal epiphysis morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:225500", + "label": "Ellis-Van creveld syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:44.000622Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0006539", + "label": "Bronchial cartilage hypoplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:130710", + "label": "Emphysema, congenital lobar" + } + } + ], + "metaData": { + "created": "2024-06-11T20:35:24.561489Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Emphysema_hereditary_pulmonary_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Emphysema_hereditary_pulmonary_patient_1.json new file mode 100644 index 000000000..f5ccc83b5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Emphysema_hereditary_pulmonary_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "emphysema,_hereditary_pulmonary", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004469", + "label": "Chronic bronchitis" + } + }, + { + "type": { + "id": "HP:0032965", + "label": "Interstitial emphysema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:130700", + "label": "Emphysema, hereditary pulmonary" + } + } + ], + "metaData": { + "created": "2024-06-11T19:52:33.924099Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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"iso8601duration": "P6Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033993", + "label": "Viral encephalitis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619441", + "label": "Encephalitis, acute, infection (viral)-induced, susceptibility to, 11" + } + } + ], + "metaData": { + "created": "2024-06-11T21:01:38.235568Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Encephalitis_encephalopathy_mild_with_reversible_myelin_vacuolization_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Encephalitis_encephalopathy_mild_with_reversible_myelin_vacuolization_patient_1.json new file mode 100644 index 000000000..56a3695a7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Encephalitis_encephalopathy_mild_with_reversible_myelin_vacuolization_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "encephalitis/encephalopathy,_mild,_with_reversible_myelin_vacuolization", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618113", + "label": "Encephalitis/encephalopathy, mild, with reversible myelin vacuolization" + } + } + ], + "metaData": { + "created": "2024-06-11T19:06:37.837266Z", + "createdBy": 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"encephalocraniocutaneous_lipomatosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100702", + "label": "Arachnoid cyst" + } + }, + { + "type": { + "id": "HP:0000647", + "label": "Sclerocornea" + } + }, + { + "type": { + "id": "HP:0001596", + "label": "Alopecia" + } + }, + { + "type": { + "id": "HP:0012032", + "label": "Lipoma" + } + }, + { + "type": { + "id": "HP:0001305", + "label": "Dandy-Walker malformation" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0001140", + "label": "Limbal dermoid" + } + }, + { + "type": { + "id": "HP:0001274", + "label": "Agenesis of corpus callosum" + } + }, + { + "type": { + "id": "HP:0001711", + "label": "Abnormal left ventricle morphology" + } + }, + { + "type": { + "id": "HP:0033680", + "label": "Pilocytic astrocytoma" + } + }, + { + "type": { + "id": 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"type": { + "id": "HP:0001264", + "label": "Spastic diplegia" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:225700", + "label": "Encephalomalacia, multilocular" + } + } + ], + "metaData": { + "created": "2024-06-11T18:41:36.970303Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Encephalomyopathy_mitochondrial_due_to_voltage_dependent_anion_channel_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Encephalomyopathy_mitochondrial_due_to_voltage_dependent_anion_channel_deficiency_patient_1.json new file mode 100644 index 000000000..89b1407aa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Encephalomyopathy_mitochondrial_due_to_voltage_dependent_anion_channel_deficiency_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "encephalomyopathy,_mitochondrial,_due_to_voltage-dependent_anion_channel_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012448", + "label": "Delayed myelination" + } + }, + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0001520", + "label": "Large for gestational age" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0001875", + "label": "Neutropenia" + } + }, + { + "type": { + "id": "HP:0002126", + "label": "Polymicrogyria" + } + }, + { + "type": { + "id": "HP:0003128", + "label": "Lactic acidosis" + } + }, + { + "type": { + "id": "HP:0001159", + "label": "Syndactyly" + } + }, + { + "type": { + "id": "HP:0001537", + "label": "Umbilical hernia" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0012553", + "label": "Hypoplastic thumbnail" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614520", + "label": "Encephalomyopathy, mitochondrial, due to voltage-dependent anion channel deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T23:47:20.298005Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Encephalopathy_acute_infection_induced_herpes_specific_susceptibility_to_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Encephalopathy_acute_infection_induced_herpes_specific_susceptibility_to_1_patient_1.json new file mode 100644 index 000000000..c4a5cc476 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Encephalopathy_acute_infection_induced_herpes_specific_susceptibility_to_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "encephalopathy,_acute,_infection-induced_(herpes-specific),_susceptibility_to,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012302", + "label": "Herpes simplex encephalitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610551", + "label": "Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1" + } + } + ], + "metaData": { 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Encephalopathy_acute_infection_induced_herpes_specific_susceptibility_to_5_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "encephalopathy,_acute,_infection-induced_(herpes-specific),_susceptibility_to,_5", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006846", + "label": "Acute encephalopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614849", + "label": "Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:42.083338Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Encephalopathy_acute_infection_induced_herpes_specific_susceptibility_to_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Encephalopathy_acute_infection_induced_herpes_specific_susceptibility_to_7_patient_1.json new file mode 100644 index 000000000..eebd9abcf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Encephalopathy_acute_infection_induced_herpes_specific_susceptibility_to_7_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "encephalopathy,_acute,_infection-induced_(herpes-specific),_susceptibility_to,_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012302", + "label": "Herpes simplex encephalitis" + } + }, + { + "type": { + "id": "HP:0031179", + "label": "Nuchal rigidity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616532", + "label": "Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7" + } + 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"id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0002493", + "label": "Upper motor neuron dysfunction" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + }, + { + "type": { + "id": "HP:0002448", + "label": "Progressive encephalopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617207", + "label": "Encephalopathy, progressive, with amyotrophy and optic atrophy" + } + } + ], + "metaData": { + "created": "2024-06-11T23:16:29.348810Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Endocardial_fibroelastosis_and_coarctation_of_abdominal_aorta_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "endocardial_fibroelastosis_and_coarctation_of_abdominal_aorta", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001706", + "label": "Endocardial fibroelastosis" + } + }, + { + "type": { + "id": "HP:0030962", + "label": "Abnormal morphology of the great vessels" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:226100", + "label": "Endocardial fibroelastosis and coarctation of abdominal aorta" + } + } + ], + "metaData": { + "created": "2024-06-11T22:10:11.215496Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": 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-0,0 +1,57 @@ +{ + "id": "endometriosis,_susceptibility_to,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100607", + "label": "Dysmenorrhea" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + }, + { + "type": { + "id": "HP:0030126", + "label": "Abnormal endometrium morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:131200", + "label": "Endometriosis, susceptibility to, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:59:22.152707Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Enhanced_S_cone_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Enhanced_S_cone_syndrome_patient_1.json new file mode 100644 index 000000000..a040b3203 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Enhanced_S_cone_syndrome_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "enhanced_s-cone_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + }, + { + "type": { + "id": "HP:0007773", + "label": "Vitreoretinopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:268100", + "label": "Enhanced S-cone syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:57:59.299697Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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edema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:226200", + "label": "Enterokinase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T23:40:02.181070Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Enuresis_nocturnal_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Enuresis_nocturnal_1_patient_1.json new file mode 100644 index 000000000..cf02d519e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Enuresis_nocturnal_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "enuresis,_nocturnal,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010677", + "label": "Enuresis nocturna" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600631", + "label": "Enuresis, nocturnal, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:06:53.385739Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Enuresis_nocturnal_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Enuresis_nocturnal_2_patient_1.json new file mode 100644 index 000000000..76ac78e82 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Enuresis_nocturnal_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "enuresis,_nocturnal,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010677", + "label": "Enuresis nocturna" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600808", + "label": "Enuresis, nocturnal, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:30:25.385703Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Eosinophil_peroxidase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Eosinophil_peroxidase_deficiency_patient_1.json new file mode 100644 index 000000000..2304b2251 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Eosinophil_peroxidase_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "eosinophil_peroxidase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034253", + "label": "Eosinophil nuclear hypersegmentation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:261500", + "label": "Eosinophil peroxidase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T21:46:10.068041Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Eosinophilia_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Eosinophilia_familial_patient_1.json new file mode 100644 index 000000000..17113cd4a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Eosinophilia_familial_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "eosinophilia,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001880", + "label": "Eosinophilia" + } + }, + { + "type": { + "id": "HP:0031323", + "label": "Myocardial eosinophilic infiltration" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:131400", + "label": "Eosinophilia, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T21:06:25.998086Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance 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"resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermal_nevus_somatic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermal_nevus_somatic_patient_1.json new file mode 100644 index 000000000..571a2fad1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermal_nevus_somatic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epidermal_nevus,_somatic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000995", + "label": "Melanocytic nevus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:162900", + "label": "Epidermal nevus, somatic" + } + } + ], + "metaData": { + "created": "2024-06-11T20:58:59.168989Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermodysplasia_verruciformis_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermodysplasia_verruciformis_2_patient_1.json new file mode 100644 index 000000000..33c59234c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermodysplasia_verruciformis_2_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "epidermodysplasia_verruciformis_2", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0550004", + "label": "Verruca plana" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0002860", + "label": "Squamous cell carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618231", + "label": "Epidermodysplasia verruciformis 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:12:06.844832Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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"epidermodysplasia_verruciformis,_susceptibility_to,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001939", + "label": "Abnormality of metabolism/homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:226400", + "label": "Epidermodysplasia verruciformis, susceptibility to, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:40:45.867385Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermodysplasia_verruciformis_susceptibility_to_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermodysplasia_verruciformis_susceptibility_to_3_patient_1.json new file mode 100644 index 000000000..391cdd36a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermodysplasia_verruciformis_susceptibility_to_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epidermodysplasia_verruciformis,_susceptibility_to,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200043", + "label": "Verrucae" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618267", + "label": "Epidermodysplasia verruciformis, susceptibility to, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T18:53:08.700804Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermodysplasia_verruciformis_susceptibility_to_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermodysplasia_verruciformis_susceptibility_to_4_patient_1.json new file mode 100644 index 000000000..229f38cba --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermodysplasia_verruciformis_susceptibility_to_4_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "epidermodysplasia_verruciformis,_susceptibility_to,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002097", + "label": "Emphysema" + } + }, + { + "type": { + "id": "HP:0031514", + "label": "Increased proportion of exhausted T cells" + } + }, + { + "type": { + "id": "HP:0032215", + "label": "Disseminated cutaneous warts" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618307", + "label": "Epidermodysplasia verruciformis, susceptibility to, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T18:50:04.519909Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermodysplasia_verruciformis_susceptibility_to_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermodysplasia_verruciformis_susceptibility_to_5_patient_1.json new file mode 100644 index 000000000..ecbb6f1b6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermodysplasia_verruciformis_susceptibility_to_5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epidermodysplasia_verruciformis,_susceptibility_to,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001888", + "label": "Lymphopenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618309", + "label": "Epidermodysplasia verruciformis, susceptibility to, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T22:47:14.651239Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_dystrophica_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_dystrophica_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..62fe504b9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_dystrophica_autosomal_dominant_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epidermolysis_bullosa_dystrophica,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008066", + "label": "Abnormal blistering of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:131750", + "label": "Epidermolysis bullosa dystrophica, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T20:27:27.439085Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_dystrophica_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_dystrophica_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..4257939d6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_dystrophica_autosomal_recessive_patient_1.json @@ -0,0 +1,164 @@ +{ + "id": "epidermolysis_bullosa_dystrophica,_autosomal_recessive", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001075", + "label": "Atrophic scars" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0033803", + "label": "Sub-lamina densa cleavage" + } + }, + { + "type": { + "id": "HP:0002164", + "label": "Nail dysplasia" + } + }, + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0000160", + "label": "Narrow mouth" + } + }, + { + "type": { + "id": "HP:0005922", + "label": "Abnormal hand morphology" + } + }, + { + "type": { + "id": "HP:0004856", + "label": "Normochromic microcytic anemia" + } + }, + { + "type": { + "id": "HP:0012719", + "label": "Functional abnormality of the gastrointestinal tract" + } + }, + { + "type": { + "id": "HP:0005203", + "label": "Spontaneous esophageal perforation" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0200097", + "label": "Oral mucosal blisters" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0008404", + "label": "Nail dystrophy" + } + }, + { + "type": { + "id": "HP:0004395", + "label": "Malnutrition" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0007585", + "label": "Skin fragility with non-scarring blistering" + } + }, + { + "type": { + "id": "HP:0011793", + "label": "Neoplasm by anatomical site" + } + }, + { + "type": { + "id": "HP:0012647", + "label": "Abnormal inflammatory response" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:226600", + "label": "Epidermolysis bullosa dystrophica, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T23:26:44.307411Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_dystrophica_neurotrophica_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_dystrophica_neurotrophica_patient_1.json new file mode 100644 index 000000000..95ba5af8c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_dystrophica_neurotrophica_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "epidermolysis_bullosa_dystrophica_neurotrophica", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007504", + "label": "Diffuse slow skin atrophy" + } + }, + { + "type": { + "id": "HP:0002164", + "label": "Nail dysplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:226500", + "label": "Epidermolysis bullosa dystrophica neurotrophica" + } + } + ], + "metaData": { + "created": "2024-06-11T21:36:43.902498Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_dystrophica_pretibial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_dystrophica_pretibial_patient_1.json new file mode 100644 index 000000000..6f255f303 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_dystrophica_pretibial_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "epidermolysis_bullosa_dystrophica,_pretibial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000989", + "label": "Pruritus" + } + }, + { + "type": { + "id": "HP:0041093", + "label": "Beau's lines" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:131850", + "label": "Epidermolysis bullosa dystrophica, pretibial" + } + } + ], + "metaData": { + "created": "2024-06-11T23:29:10.712145Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_2A_intermediate_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_2A_intermediate_patient_1.json new file mode 100644 index 000000000..32a8689e2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_2A_intermediate_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "epidermolysis_bullosa,_junctional_2a,_intermediate", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008066", + "label": "Abnormal blistering of the skin" + } + }, + { + "type": { + "id": "HP:0200097", + "label": "Oral mucosal blisters" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619783", + "label": "Epidermolysis bullosa, junctional 2A, intermediate" + } + } + ], + "metaData": { + "created": "2024-06-11T19:15:21.050548Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_2B_severe_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_2B_severe_patient_1.json new file mode 100644 index 000000000..e1de7dda4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_2B_severe_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "epidermolysis_bullosa,_junctional_2b,_severe", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0020117", + "label": "Hypoplastic dermoepidermal hemidesmosomes" + } + }, + { + "type": { + "id": "HP:0003341", + "label": "Lamina lucida cleavage" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619784", + "label": "Epidermolysis bullosa, junctional 2B, severe" + } + } + ], + "metaData": { + "created": "2024-06-11T18:15:00.840178Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_3A_intermediate_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_3A_intermediate_patient_1.json new file mode 100644 index 000000000..2bafba311 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_3A_intermediate_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "epidermolysis_bullosa,_junctional_3a,_intermediate", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0020117", + "label": "Hypoplastic dermoepidermal hemidesmosomes" + } + }, + { + "type": { + "id": "HP:0033804", + "label": "Subepidermal blistering" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619785", + "label": "Epidermolysis bullosa, junctional 3A, intermediate" + } + } + ], + "metaData": { + "created": "2024-06-11T18:23:43.449392Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_3B_severe_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_3B_severe_patient_1.json new file mode 100644 index 000000000..020f4ce4d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_3B_severe_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "epidermolysis_bullosa,_junctional_3b,_severe", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001597", + "label": "Abnormality of the nail" + } + }, + { + "type": { + "id": "HP:0003341", + "label": "Lamina lucida cleavage" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619786", + "label": "Epidermolysis bullosa, junctional 3B, severe" + } + } + ], + "metaData": { + "created": "2024-06-11T17:59:56.744573Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_4_intermediate_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_4_intermediate_patient_1.json new file mode 100644 index 000000000..aac7f49ab --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_4_intermediate_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "epidermolysis_bullosa,_junctional_4,_intermediate", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009722", + "label": "Dental enamel pits" + } + }, + { + "type": { + "id": "HP:0008391", + "label": "Dystrophic fingernails" + } + }, + { + "type": { + "id": "HP:0000670", + "label": "Carious teeth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619787", + "label": "Epidermolysis bullosa, junctional 4, intermediate" + } + } + ], + "metaData": { + "created": "2024-06-11T17:51:49.898219Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", 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the skin" + } + }, + { + "type": { + "id": "HP:0008066", + "label": "Abnormal blistering of the skin" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0020117", + "label": "Hypoplastic dermoepidermal hemidesmosomes" + } + }, + { + "type": { + "id": "HP:0008661", + "label": "Urethral stenosis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0002221", + "label": "Absent axillary hair" + } + }, + { + "type": { + "id": "HP:0003341", + "label": "Lamina lucida cleavage" + } + }, + { + "type": { + "id": "HP:0001805", + "label": "Onychogryposis" + } + }, + { + "type": { + "id": "HP:0008400", + "label": "Onycholysis of distal fingernails" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619816", + "label": "Epidermolysis bullosa, junctional 5A, intermediate" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_6_with_pyloric_atresia_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "epidermolysis_bullosa,_junctional_6,_with_pyloric_atresia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0020117", + "label": "Hypoplastic dermoepidermal hemidesmosomes" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619817", + "label": "Epidermolysis bullosa, junctional 6, with pyloric atresia" + } + } + ], + "metaData": { + "created": "2024-06-11T17:49:21.154874Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_Herlitz_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_Herlitz_type_patient_1.json new file mode 100644 index 000000000..805a37a3d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_Herlitz_type_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "epidermolysis_bullosa,_junctional,_herlitz_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008066", + "label": "Abnormal blistering of the skin" + } + }, + { + "type": { + "id": "HP:0008404", + "label": "Nail dystrophy" + } + }, + { + "type": { + "id": "HP:0003341", + "label": "Lamina lucida cleavage" + } + }, + { + "type": { + "id": "HP:0001056", + "label": "Milia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:226700", + "label": "Epidermolysis bullosa, junctional, Herlitz type" + } + } + ], + "metaData": { + "created": "2024-06-11T21:19:23.271693Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_Non_Herlitz_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_Non_Herlitz_type_patient_1.json new file mode 100644 index 000000000..5a1d329bf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_Non_Herlitz_type_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "epidermolysis_bullosa,_junctional,_non-herlitz_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008066", + "label": "Abnormal blistering of the skin" + } + }, + { + "type": { + "id": "HP:0004529", + "label": "Atrophic, patchy alopecia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:226650", + "label": "Epidermolysis bullosa, junctional, Non-Herlitz type" + } + } + ], + "metaData": { + "created": "2024-06-11T20:58:38.559366Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_with_pyloric_atresia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_with_pyloric_atresia_patient_1.json new file mode 100644 index 000000000..7859b2134 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_junctional_with_pyloric_atresia_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "epidermolysis_bullosa,_junctional,_with_pyloric_atresia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008066", + "label": "Abnormal blistering of the skin" + } + }, + { + "type": { + "id": "HP:0034378", + "label": "Urethrovesical occlusion" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0004399", + "label": "Congenital pyloric atresia" + } + }, + { + "type": { + "id": "HP:0004399", + "label": "Congenital pyloric atresia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:226730", + "label": "Epidermolysis bullosa, junctional, with pyloric atresia" + } + } + ], + "metaData": { + "created": "2024-06-11T20:55:48.916655Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_lethal_acantholytic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_lethal_acantholytic_patient_1.json new file mode 100644 index 000000000..f4a733d1e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_lethal_acantholytic_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "epidermolysis_bullosa,_lethal_acantholytic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004057", + "label": "Mitten deformity" + } + }, + { + "type": { + "id": "HP:0008094", + "label": "Widely spaced toes" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0006224", + "label": "Tapering pointed ends of distal finger phalanges" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609638", + "label": "Epidermolysis bullosa, lethal acantholytic" + } + } + ], + "metaData": { + "created": "2024-06-12T02:25:08.033529Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_pruriginosa_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_pruriginosa_patient_1.json new file mode 100644 index 000000000..0ee590fe6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_pruriginosa_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "epidermolysis_bullosa_pruriginosa", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0100797", + "label": "Toenail dysplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604129", + "label": "Epidermolysis bullosa pruriginosa" + } + } + ], + "metaData": { + "created": "2024-06-11T18:35:38.547668Z", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_1B_generalized_intermediate_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epidermolysis_bullosa_simplex_1b,_generalized_intermediate", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008066", + "label": "Abnormal blistering of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:131900", + "label": "Epidermolysis bullosa simplex 1B, generalized intermediate" + } + } + ], + "metaData": { + "created": "2024-06-11T18:46:45.228163Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_2A_generalized_severe_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_2A_generalized_severe_patient_1.json new file mode 100644 index 000000000..224622d77 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_2A_generalized_severe_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "epidermolysis_bullosa_simplex_2a,_generalized_severe", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007530", + "label": "Punctate palmoplantar hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0034366", + "label": "Fracture blister" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0034193", + "label": "Stratum basale cleavage" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619555", + "label": 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000000000..e114a1c56 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_2B_generalized_intermediate_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epidermolysis_bullosa_simplex_2b,_generalized_intermediate", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007446", + "label": "Palmoplantar blistering" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619588", + "label": "Epidermolysis bullosa simplex 2B, generalized intermediate" + } + } + ], + "metaData": { + "created": "2024-06-12T01:41:59.589791Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_2D_generalized_intermediate_or_severe_autosomal_recessive_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "epidermolysis_bullosa_simplex_2d,_generalized,_intermediate_or_severe,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0200097", + "label": "Oral mucosal blisters" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0031045", + "label": "Acral blistering" + } + }, + { + "type": { + "id": "HP:0040187", + "label": "Neonatal sepsis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619599", + "label": "Epidermolysis bullosa simplex 2D, generalized, intermediate or severe, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T22:53:46.421498Z", + "createdBy": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_2E_with_migratory_circinate_erythema_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epidermolysis_bullosa_simplex_2e,_with_migratory_circinate_erythema", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008066", + "label": "Abnormal blistering of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609352", + "label": "Epidermolysis bullosa simplex 2E, with migratory circinate erythema" + } + } + ], + "metaData": { + "created": "2024-06-11T18:11:28.090159Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_4_localized_or_generalized_intermediate_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_4_localized_or_generalized_intermediate_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..4a827681e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_4_localized_or_generalized_intermediate_autosomal_recessive_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "epidermolysis_bullosa_simplex_4,_localized_or_generalized_intermediate,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008066", + "label": "Abnormal 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end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_Dowling_Meara_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_Dowling_Meara_type_patient_1.json new file mode 100644 index 000000000..2b482d4f2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_Dowling_Meara_type_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "epidermolysis_bullosa_simplex,_dowling-meara_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001615", + "label": "Hoarse cry" + } + }, + { + "type": { + "id": "HP:0008404", + "label": "Nail dystrophy" + } + }, + { + "type": { + "id": "HP:0000972", + "label": "Palmoplantar hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:131760", + "label": "Epidermolysis bullosa simplex, Dowling-Meara type" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_Ogna_type_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "epidermolysis_bullosa_simplex,_ogna_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0020117", + "label": "Hypoplastic dermoepidermal hemidesmosomes" + } + }, + { + "type": { + "id": "HP:0008401", + "label": "Onychogryposis of toenails" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:131950", + "label": "Epidermolysis bullosa simplex, Ogna type" + } + } + ], + "metaData": { + "created": "2024-06-11T21:16:40.944372Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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type" + } + } + ], + "metaData": { + "created": "2024-06-11T21:02:11.665797Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_autosomal_recessive_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_autosomal_recessive_2_patient_1.json new file mode 100644 index 000000000..28d8bb99d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_autosomal_recessive_2_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "epidermolysis_bullosa_simplex,_autosomal_recessive_2", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032449", + "label": "Abnormal dermoepidermal hemidesmosome morphology" + } + }, + { + "type": { + "id": "HP:0001810", + "label": "Dystrophic toenail" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615425", + "label": "Epidermolysis bullosa simplex, autosomal recessive 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:17:19.604544Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_generalized_with_scarring_and_hair_loss_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_generalized_with_scarring_and_hair_loss_patient_1.json new file mode 100644 index 000000000..ef1b08c05 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_generalized_with_scarring_and_hair_loss_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "epidermolysis_bullosa_simplex,_generalized,_with_scarring_and_hair_loss", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P39Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008066", + "label": "Abnormal blistering of the skin" + } + }, + { + "type": { + "id": "HP:0007447", + "label": "Diffuse palmoplantar hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0001805", + "label": "Onychogryposis" + } + }, + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617294", + "label": "Epidermolysis bullosa simplex, generalized, with scarring and hair loss" + } + } + ], + "metaData": { + "created": "2024-06-11T20:50:36.672379Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_with_mottled_pigmentation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_with_mottled_pigmentation_patient_1.json new file mode 100644 index 000000000..4ae882d95 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_with_mottled_pigmentation_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "epidermolysis_bullosa_simplex_with_mottled_pigmentation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002164", + "label": "Nail dysplasia" + } + }, + { + "type": { + "id": "HP:0041093", + "label": "Beau's lines" + } + }, + { + "type": { + "id": "HP:0001805", + "label": "Onychogryposis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:131960", + "label": "Epidermolysis bullosa simplex with mottled pigmentation" + } + } + ], + "metaData": { + "created": "2024-06-11T20:54:04.183078Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_with_muscular_dystrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_with_muscular_dystrophy_patient_1.json new file mode 100644 index 000000000..ddbfe3021 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_with_muscular_dystrophy_patient_1.json @@ -0,0 +1,110 @@ +{ + "id": "epidermolysis_bullosa_simplex_with_muscular_dystrophy", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P3Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004552", + "label": "Scarring alopecia of scalp" + } + }, + { + "type": { + "id": "HP:0012227", + "label": "Urethral stricture" + } + }, + { + "type": { + "id": "HP:0008404", + "label": "Nail dystrophy" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0002643", + "label": "Neonatal respiratory distress" + } + }, + { + "type": { + "id": "HP:0007404", + "label": "Nonepidermolytic palmoplantar hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0004303", + "label": "Abnormal muscle fiber morphology" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0000670", + "label": "Carious teeth" + } + }, + { + "type": { + "id": "HP:0034194", + "label": "Suprabasal cleavage" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:226670", + "label": "Epidermolysis bullosa simplex with muscular dystrophy" + } + } + ], + "metaData": { + "created": "2024-06-11T22:21:20.638609Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_with_nail_dystrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_with_nail_dystrophy_patient_1.json new file mode 100644 index 000000000..ec7f514e9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_with_nail_dystrophy_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "epidermolysis_bullosa_simplex_with_nail_dystrophy", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P3Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034193", + "label": "Stratum basale cleavage" + } + }, + { + "type": { + "id": "HP:0007553", + "label": "Congenital symmetrical palmoplantar keratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616487", + "label": "Epidermolysis bullosa simplex with nail dystrophy" + } + } + ], + "metaData": { + "created": "2024-06-11T23:38:36.541042Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_with_pyloric_atresia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_with_pyloric_atresia_patient_1.json new file mode 100644 index 000000000..d75b4c404 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_simplex_with_pyloric_atresia_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "epidermolysis_bullosa_simplex_with_pyloric_atresia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0008066", + "label": "Abnormal blistering of the skin" + } + }, + { + "type": { + "id": "HP:0004399", + "label": "Congenital pyloric atresia" + } + }, + { + "type": { + "id": "HP:0000430", + "label": "Underdeveloped nasal alae" + } + }, + { + "type": { + "id": "HP:0000490", + "label": "Deeply set eye" + } + }, + { + "type": { + "id": "HP:0000256", + "label": "Macrocephaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612138", + "label": "Epidermolysis bullosa simplex with pyloric atresia" + } + } + ], + "metaData": { + "created": "2024-06-11T20:57:05.367576Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_with_congenital_localized_absence_of_skin_anddeformity_of_nails_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_with_congenital_localized_absence_of_skin_anddeformity_of_nails_patient_1.json new file mode 100644 index 000000000..2c3f810d4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_with_congenital_localized_absence_of_skin_anddeformity_of_nails_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epidermolysis_bullosa_with_congenital_localized_absence_of_skin_anddeformity_of_nails", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001030", + "label": "Fragile skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:132000", + "label": "Epidermolysis bullosa with congenital localized absence of skin anddeformity of nails" + } + } + ], + "metaData": { + "created": "2024-06-11T18:15:57.686058Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_with_deficiency_of_galactosylhydroxylysyl_glucosyltransferase_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_with_deficiency_of_galactosylhydroxylysyl_glucosyltransferase_patient_1.json new file mode 100644 index 000000000..fd5afa383 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_with_deficiency_of_galactosylhydroxylysyl_glucosyltransferase_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epidermolysis_bullosa_with_deficiency_of_galactosylhydroxylysyl_glucosyltransferase", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008066", + "label": "Abnormal blistering of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:131880", + "label": "Epidermolysis bullosa with deficiency of galactosylhydroxylysyl glucosyltransferase" + } + } + ], + "metaData": { + "created": "2024-06-11T23:56:50.932753Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_with_diaphragmatic_hernia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_with_diaphragmatic_hernia_patient_1.json new file mode 100644 index 000000000..4c4923f20 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolysis_bullosa_with_diaphragmatic_hernia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epidermolysis_bullosa_with_diaphragmatic_hernia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008066", + "label": "Abnormal blistering of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:226735", + "label": "Epidermolysis bullosa with diaphragmatic hernia" + } + } + ], + "metaData": { + "created": "2024-06-11T19:39:50.816768Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolytic_hyperkeratosis_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolytic_hyperkeratosis_2_patient_1.json new file mode 100644 index 000000000..0b0b361e9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolytic_hyperkeratosis_2_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "epidermolytic_hyperkeratosis_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000982", + "label": "Palmoplantar keratoderma" + } + }, + { + "type": { + "id": "HP:0001019", + "label": "Erythroderma" + } + }, + { + "type": { + "id": "HP:0005595", + "label": "Generalized hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0007479", + "label": "Congenital nonbullous ichthyosiform erythroderma" + } + }, + { + "type": { + "id": "HP:0031288", + "label": "Cobblestone-like hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620150", + "label": "Epidermolytic hyperkeratosis 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:10:22.271745Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolytic_hyperkeratosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolytic_hyperkeratosis_patient_1.json new file mode 100644 index 000000000..dfb0a31d6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epidermolytic_hyperkeratosis_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "epidermolytic_hyperkeratosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040189", + "label": "Scaling skin" + } + }, + { + "type": { + "id": "HP:0025092", + "label": "Epidermal acanthosis" + } + }, + { + "type": { + "id": "HP:0001019", + "label": "Erythroderma" + } + }, + { + "type": { + "id": "HP:0033800", + "label": "Blistering by anatomical location" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:113800", + "label": "Epidermolytic hyperkeratosis" + } + } + ], + "metaData": { + "created": "2024-06-11T18:51:26.456273Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_X_linked_2_with_or_without_impaired_intellectual_development_and_dysmorphic_features_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_X_linked_2_with_or_without_impaired_intellectual_development_and_dysmorphic_features_patient_1.json new file mode 100644 index 000000000..aaeb02994 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_X_linked_2_with_or_without_impaired_intellectual_development_and_dysmorphic_features_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "epilepsy,_x-linked_2,_with_or_without_impaired_intellectual_development_and_dysmorphic_features", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000411", + "label": "Protruding ear" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0007286", + "label": "Horizontal jerk nystagmus" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0200021", + "label": "Down-sloping shoulders" + } + }, + { + "type": { + "id": "HP:0000160", + "label": "Narrow mouth" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + } + }, + { + "type": { + "id": "HP:0009118", + "label": "Aplasia/Hypoplasia of the mandible" + } + }, + { + "type": { + "id": "HP:0011167", + "label": "Focal tonic seizure" + } + }, + { + "type": { + "id": "HP:0012736", + "label": "Profound global developmental delay" + } + }, + { + "type": { + "id": "HP:0032843", + "label": "Focal-onset epileptic spasm" + } + }, + { + "type": { + "id": "HP:5201003", + "label": "Complete cleft hard palate" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0200007", + "label": "Abnormal size of the palpebral fissures" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301091", + "label": "Epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features" + } + } + ], + "metaData": { + "created": "2024-06-11T23:30:39.750778Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_X_linked_with_variable_learning_disabilities_and_behavior_disorders_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_X_linked_with_variable_learning_disabilities_and_behavior_disorders_patient_1.json new file mode 100644 index 000000000..c568bba4a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_X_linked_with_variable_learning_disabilities_and_behavior_disorders_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "epilepsy,_x-linked,_with_variable_learning_disabilities_and_behavior_disorders", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300491", + "label": "Epilepsy, X-linked, with variable learning disabilities and behavior disorders" + } + } + ], + "metaData": { + "created": "2024-06-11T19:22:15.473330Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_benign_neonatal_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_benign_neonatal_2_patient_1.json new file mode 100644 index 000000000..af34c4e97 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_benign_neonatal_2_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "epilepsy,_benign_neonatal,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002266", + "label": "Focal clonic seizure" + } + }, + { + "type": { + "id": "HP:0032660", + "label": "Convulsive status epilepticus" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:121201", + "label": "Epilepsy, benign neonatal, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:25.438653Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_benign_neonatal_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_benign_neonatal_3_patient_1.json new file mode 100644 index 000000000..9e694a8a9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_benign_neonatal_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epilepsy,_benign_neonatal,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002069", + "label": "Bilateral tonic-clonic seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608217", + "label": "Epilepsy, benign neonatal, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T20:39:55.154092Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_benign_occipital_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_benign_occipital_patient_1.json new file mode 100644 index 000000000..05b5dadee --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_benign_occipital_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epilepsy,_benign_occipital", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:132090", + "label": "Epilepsy, benign occipital" + } + } + ], + "metaData": { + "created": "2024-06-11T21:56:53.094903Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_childhood_absence_susceptibility_to_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_childhood_absence_susceptibility_to_1_patient_1.json new file mode 100644 index 000000000..98d3ac8d6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_childhood_absence_susceptibility_to_1_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "epilepsy,_childhood_absence,_susceptibility_to,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002069", + "label": "Bilateral tonic-clonic seizure" + } + }, + { + "type": { + "id": "HP:0002392", + "label": "EEG with polyspike wave complexes" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600131", + "label": "Epilepsy, childhood absence, susceptibility to, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:39:42.793Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_childhood_absence_susceptibility_to_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_childhood_absence_susceptibility_to_5_patient_1.json new file mode 100644 index 000000000..f71efadf0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_childhood_absence_susceptibility_to_5_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "epilepsy,_childhood_absence,_susceptibility_to,_5", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002121", + "label": "Generalized non-motor (absence) seizure" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612269", + "label": "Epilepsy, childhood absence, susceptibility to, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T21:48:40.587607Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_early_onset_3_with_or_without_developmental_delay_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_early_onset_3_with_or_without_developmental_delay_patient_1.json new file mode 100644 index 000000000..086c6f101 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_early_onset_3_with_or_without_developmental_delay_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "epilepsy,_early-onset,_3,_with_or_without_developmental_delay", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007334", + "label": "Bilateral tonic-clonic seizure with focal onset" + } + }, + { + "type": { + "id": "HP:0031165", + "label": "Multifocal seizures" + } + }, + { + "type": { + "id": "HP:0002373", + "label": "Febrile seizure (within the age range of 3 months to 6 years)" + } + }, + { + "type": { + "id": "HP:0002384", + "label": "Focal impaired awareness seizure" + } + }, + { + "type": { + "id": "HP:0002121", + "label": "Generalized non-motor (absence) seizure" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0010818", + "label": "Generalized tonic seizure" + } + }, + { + "type": { + "id": "HP:0011168", + "label": "Focal seizure with eyelid myoclonia" + } + }, + { + "type": { + "id": "HP:0034332", + "label": "Cognitive regression" + } + }, + { + "type": { + "id": "HP:0002187", + "label": "Intellectual disability, profound" + } + }, + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0020219", + "label": "Motor seizure" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620465", + "label": "Epilepsy, early-onset, 3, with or without developmental delay" + } + } + ], + "metaData": { + "created": "2024-06-11T18:44:54.727210Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_early_onset_vitamin_b6_dependent_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_early_onset_vitamin_b6_dependent_patient_1.json new file mode 100644 index 000000000..4fc0b2c9b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_early_onset_vitamin_b6_dependent_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "epilepsy,_early-onset,_vitamin_b6-dependent", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032792", + "label": "Tonic seizure" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0002465", + "label": "Poor speech" + } + }, + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0001276", + "label": "Hypertonia" + } + }, + { + "type": { + "id": "HP:0034057", + "label": "Fetal anomaly" + } + }, + { + "type": { + "id": "HP:0004485", + "label": "Cessation of head growth" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617290", + "label": "Epilepsy, early-onset, vitamin b6-dependent" + } + } + ], + "metaData": { + "created": "2024-06-11T19:34:51.294948Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_early_onset_with_or_without_developmental_delay_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_early_onset_with_or_without_developmental_delay_patient_1.json new file mode 100644 index 000000000..f317d5ce5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_early_onset_with_or_without_developmental_delay_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "epilepsy,_early-onset,_with_or_without_developmental_delay", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_adult_myoclonic_7_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epilepsy,_familial_adult_myoclonic,_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618075", + "label": "Epilepsy, familial adult myoclonic, 7" + } + } + ], + "metaData": { + "created": "2024-06-11T18:09:33.581106Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_focal_with_variable_foci_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_focal_with_variable_foci_2_patient_1.json new file mode 100644 index 000000000..aa03f1152 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_focal_with_variable_foci_2_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "epilepsy,_familial_focal,_with_variable_foci_2", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617116", + "label": "Epilepsy, familial focal, with variable foci 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:10:48.322179Z", + "createdBy": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_focal_with_variable_foci_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_focal_with_variable_foci_4_patient_1.json new file mode 100644 index 000000000..f26d81397 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_focal_with_variable_foci_4_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "epilepsy,_familial_focal,_with_variable_foci_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + }, + { + "type": { + "id": "HP:0008935", + "label": "Generalized neonatal hypotonia" + } + }, + { + "type": { + "id": "HP:0032679", + "label": "Focal non-motor seizure" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0012332", + "label": "Abnormal autonomic nervous system physiology" + } + }, + { + "type": { 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_focal_with_variable_foci_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_focal_with_variable_foci_patient_1.json new file mode 100644 index 000000000..f9ba9eb4f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_focal_with_variable_foci_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "epilepsy,_familial_focal,_with_variable_foci", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032046", + "label": "Focal cortical dysplasia" + } + }, + { + "type": { + "id": "HP:0000729", + "label": "Autistic behavior" + } + }, + { + "type": { + "id": "HP:0032047", + "label": "Focal cortical dysplasia type I" + } + }, + { + "type": { + "id": "HP:0032053", + "label": "Focal cortical dysplasia type IIb" + } + }, + { + "type": { + "id": "HP:0032809", + "label": "Neonatal electro-clinical seizure" + } + }, + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_temporal_lobe_1_patient_1.json new file mode 100644 index 000000000..9ec363fa8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_temporal_lobe_1_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "epilepsy,_familial_temporal_lobe,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007334", + "label": "Bilateral tonic-clonic seizure with focal onset" + } + }, + { + "type": { + "id": "HP:0002069", + "label": "Bilateral tonic-clonic seizure" + } + }, + { + "type": { + "id": "HP:0011158", + "label": "Focal sensory seizure with auditory features" + } + }, + { + "type": { + "id": "HP:0032773", + "label": "Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole" + } + }, + { + "type": { + "id": "HP:0011159", + "label": "Focal autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal phenomena" + } + 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Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_temporal_lobe_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_temporal_lobe_2_patient_1.json new file mode 100644 index 000000000..f0462442f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_temporal_lobe_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epilepsy,_familial_temporal_lobe,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032656", + "label": "Febrile status epilepticus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608096", + "label": "Epilepsy, familial temporal lobe, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:50:20.796354Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_temporal_lobe_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_temporal_lobe_3_patient_1.json new file mode 100644 index 000000000..c4095f36f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_temporal_lobe_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epilepsy,_familial_temporal_lobe,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002384", + "label": "Focal impaired awareness seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611630", + "label": "Epilepsy, familial temporal lobe, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T20:30:13.897285Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_temporal_lobe_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_temporal_lobe_4_patient_1.json new file mode 100644 index 000000000..8b4671f1b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_temporal_lobe_4_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "epilepsy,_familial_temporal_lobe,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002384", + "label": "Focal impaired awareness seizure" + } + }, + { + "type": { + "id": "HP:0002077", + "label": "Migraine with aura" + } + }, + { + "type": { + "id": "HP:0011165", + "label": "Focal sensory seizure with visual features" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611631", + "label": "Epilepsy, familial temporal lobe, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T20:24:38.264394Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_temporal_lobe_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_temporal_lobe_5_patient_1.json new file mode 100644 index 000000000..12b2728f7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_temporal_lobe_5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epilepsy,_familial_temporal_lobe,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002349", + "label": "Focal aware seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614417", + "label": "Epilepsy, familial temporal lobe, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T20:18:47.972265Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_temporal_lobe_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_temporal_lobe_6_patient_1.json new file mode 100644 index 000000000..3227e3427 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_temporal_lobe_6_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epilepsy,_familial_temporal_lobe,_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002384", + "label": "Focal impaired awareness seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615697", + "label": "Epilepsy, familial temporal lobe, 6" + } + } + ], + "metaData": { + "created": "2024-06-11T20:32:19.923443Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_temporal_lobe_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_temporal_lobe_7_patient_1.json new file mode 100644 index 000000000..b9f7632b4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_temporal_lobe_7_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epilepsy,_familial_temporal_lobe,_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011158", + "label": "Focal sensory seizure with auditory features" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616436", + "label": "Epilepsy, familial temporal lobe, 7" + } + } + ], + "metaData": { + "created": "2024-06-11T21:33:56.061706Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_temporal_lobe_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_temporal_lobe_8_patient_1.json new file mode 100644 index 000000000..a7dababf4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_familial_temporal_lobe_8_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "epilepsy,_familial_temporal_lobe,_8", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P31Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032705", + "label": "Focal aware cognitive seizure with forced thinking" + } + }, + { + "type": { + "id": "HP:0007334", + "label": "Bilateral tonic-clonic seizure with focal onset" + } + }, + { + "type": { + "id": "HP:0032682", + "label": "Focal aware non-motor seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616461", + "label": "Epilepsy, familial temporal lobe, 8" + } + } + ], + "metaData": { + "created": "2024-06-11T18:25:17.820791Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_focal_with_speech_disorder_and_with_or_without_mental_retardation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_focal_with_speech_disorder_and_with_or_without_mental_retardation_patient_1.json new file mode 100644 index 000000000..a455635e4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_focal_with_speech_disorder_and_with_or_without_mental_retardation_patient_1.json @@ -0,0 +1,164 @@ +{ + "id": "epilepsy,_focal,_with_speech_disorder_and_with_or_without_mental_retardation", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0002376", + "label": "Developmental regression" + } + }, + { + "type": { + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0012557", + "label": "EEG with centrotemporal focal spike waves" + } + }, + { + "type": { + "id": "HP:0001518", + "label": "Small for gestational age" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0011098", + "label": "Speech apraxia" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0032844", + "label": "Focal impaired awareness epileptic spasm" + } + }, + { + "type": { + "id": "HP:0008929", + "label": "Asymmetric short stature" + } + }, + { + "type": { + "id": "HP:0002353", + "label": "EEG abnormality" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0031165", + "label": "Multifocal seizures" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:245570", + "label": "Epilepsy, focal, with speech disorder and with or without mental retardation" + } + } + ], + "metaData": { + "created": "2024-06-12T02:15:53.348670Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_hearing_loss_and_mental_retardation_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_hearing_loss_and_mental_retardation_syndrome_patient_1.json new file mode 100644 index 000000000..7bce680be --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_hearing_loss_and_mental_retardation_syndrome_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "epilepsy,_hearing_loss,_and_mental_retardation_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0100547", + "label": "Abnormal forebrain morphology" + } + }, + { + "type": { + "id": "HP:0008945", + "label": "Loss of ability to walk in early childhood" + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + }, + { + "type": { + "id": "HP:0040195", + "label": "Decreased head circumference" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0030884", + "label": "Gastrojejunal tube feeding in infancy" + } + }, + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0002353", + "label": "EEG abnormality" + } + }, + { + "type": { + "id": "HP:0002500", + "label": "Abnormal cerebral white matter morphology" + } + }, + { + "type": { + "id": "HP:0007854", + "label": "Glaucomatous visual field defect" + } + }, + { + "type": { + "id": "HP:0031475", + "label": "Status epilepticus without prominent motor symptoms" + } + }, + { + "type": { + "id": "HP:0002020", + "label": "Gastroesophageal reflux" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616577", + "label": "Epilepsy, hearing loss, and mental retardation syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:49:05.658967Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_hot_water_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_hot_water_1_patient_1.json new file mode 100644 index 000000000..87e584174 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_hot_water_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epilepsy,_hot_water,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613339", + "label": "Epilepsy, hot water, 1" + } + } + ], + "metaData": { + "created": "2024-06-12T00:30:24.750382Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_idiopathic_generalized_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_idiopathic_generalized_10_patient_1.json new file mode 100644 index 000000000..5fd2f0ee3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_idiopathic_generalized_10_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "epilepsy,_idiopathic_generalized,_10", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002373", + "label": "Febrile seizure (within the age range of 3 months to 6 years)" + } + }, + { + "type": { + "id": "HP:0002373", + "label": "Febrile seizure (within the age range of 3 months to 6 years)" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0002121", + "label": "Generalized non-motor 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index 000000000..8a4ab53bb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_idiopathic_generalized_susceptibility_to_14_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epilepsy,_idiopathic_generalized,_susceptibility_to,_14", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002121", + "label": "Generalized non-motor (absence) seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616685", + "label": "Epilepsy, idiopathic generalized, susceptibility to, 14" + } + } + ], + "metaData": { + "created": "2024-06-11T23:42:30.602255Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_idiopathic_generalized_susceptibility_to_18_patient_1.json new file mode 100644 index 000000000..3302fe71d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_idiopathic_generalized_susceptibility_to_18_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "epilepsy,_idiopathic_generalized,_susceptibility_to,_18", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032794", + "label": "Myoclonic seizure" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0002474", + "label": "Expressive language delay" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619521", + "label": "Epilepsy, idiopathic generalized, susceptibility to, 18" + } + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_idiopathic_generalized_susceptibility_to_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epilepsy,_idiopathic_generalized,_susceptibility_to,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002069", + "label": "Bilateral tonic-clonic seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608762", + "label": "Epilepsy, idiopathic generalized, susceptibility to, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:26:48.591329Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_idiopathic_generalized_susceptibility_to_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_idiopathic_generalized_susceptibility_to_8_patient_1.json new file mode 100644 index 000000000..12afc5ace --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_idiopathic_generalized_susceptibility_to_8_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "epilepsy_idiopathic_generalized,_susceptibility_to,_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0011149", + "label": "Absence seizure with eyelid myoclonia" + } + }, + { + "type": { + "id": "HP:0011172", + "label": "Complex febrile 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_idiopathic_generalized_susceptibility_to_9_patient_1.json new file mode 100644 index 000000000..a2973ca83 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_idiopathic_generalized_susceptibility_to_9_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "epilepsy,_idiopathic_generalized,_susceptibility_to,_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002392", + "label": "EEG with polyspike wave complexes" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0002069", + "label": "Bilateral tonic-clonic seizure" + } + }, + { + "type": { + "id": "HP:0011147", + "label": "Typical absence seizure" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0002131", + "label": "Episodic ataxia" + } + }, + { + "type": { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_juvenile_absence_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_juvenile_absence_patient_1.json new file mode 100644 index 000000000..c62ac76c1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_juvenile_absence_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "epilepsy,_juvenile_absence", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007193", + "label": "Bilateral tonic-clonic seizure on awakening" + } + }, + { + "type": { + "id": "HP:0010849", + "label": "EEG with spike-wave complexes (>3.5 Hz)" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607631", + "label": "Epilepsy, juvenile absence" + } + } + ], + "metaData": { + "created": "2024-06-11T18:07:25.900308Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002123", + "label": "Generalized myoclonic seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617924", + "label": "Epilepsy, juvenile myoclonic, susceptibility to, 10" + } + } + ], + "metaData": { + "created": "2024-06-11T21:10:17.646355Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_juvenile_myoclonic_susceptibility_to_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_juvenile_myoclonic_susceptibility_to_9_patient_1.json new file mode 100644 index 000000000..0757de515 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_juvenile_myoclonic_susceptibility_to_9_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epilepsy,_juvenile_myoclonic,_susceptibility_to,_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002121", + "label": "Generalized non-motor (absence) seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614280", + "label": "Epilepsy, juvenile myoclonic, susceptibility to, 9" + } + } + ], + "metaData": { + "created": "2024-06-11T23:22:28.709762Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_nocturnal_frontal_lobe_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_nocturnal_frontal_lobe_2_patient_1.json new file mode 100644 index 000000000..1c9fc1a6c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_nocturnal_frontal_lobe_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epilepsy,_nocturnal_frontal_lobe,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000716", + "label": "Depression" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603204", + "label": "Epilepsy, nocturnal frontal lobe, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:09.184656Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_nocturnal_frontal_lobe_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_nocturnal_frontal_lobe_3_patient_1.json new file mode 100644 index 000000000..458138bd4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_nocturnal_frontal_lobe_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epilepsy,_nocturnal_frontal_lobe,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605375", + "label": "Epilepsy, nocturnal frontal lobe, 3" + } + } + ], + "metaData": { + "created": "2024-06-12T00:31:53.150103Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_nocturnal_frontal_lobe_5_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "epilepsy,_nocturnal_frontal_lobe,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002133", + "label": "Status epilepticus" + } + }, + { + "type": { + "id": "HP:0000709", + "label": "Psychosis" + } + }, + { + "type": { + "id": "HP:0002307", + "label": "Drooling" + } + }, + { + "type": { + "id": "HP:0000716", + "label": "Depression" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615005", + "label": "Epilepsy, nocturnal frontal lobe, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T23:32:45.342271Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_nocturnal_frontal_lobe_type_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_nocturnal_frontal_lobe_type_1_patient_1.json new file mode 100644 index 000000000..2ecc6dd9c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_nocturnal_frontal_lobe_type_1_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "epilepsy,_nocturnal_frontal_lobe,_type_1", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007359", + "label": "Focal-onset seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600513", + "label": "Epilepsy, nocturnal frontal lobe, type 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:52:47.402241Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_photogenic_with_spastic_diplegia_and_mental_retardation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_photogenic_with_spastic_diplegia_and_mental_retardation_patient_1.json new file mode 100644 index 000000000..e130a857c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_photogenic_with_spastic_diplegia_and_mental_retardation_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epilepsy,_photogenic,_with_spastic_diplegia_and_mental_retardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007207", + "label": "Photosensitive tonic-clonic seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:226800", + "label": "Epilepsy, photogenic, with spastic diplegia and mental retardation" + } + } + ], + "metaData": { + "created": "2024-06-11T19:17:46.096194Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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"type": { + "id": "HP:0000738", + "label": "Hallucinations" + } + }, + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + } + }, + { + "type": { + "id": "HP:0000709", + "label": "Psychosis" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616640", + "label": "Epilepsy, progressive myoclonic, 10" + } + } + ], + "metaData": { + "created": "2024-06-11T22:50:38.741070Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_progressive_myoclonic_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_progressive_myoclonic_11_patient_1.json new file mode 100644 index 000000000..aaee435a5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_progressive_myoclonic_11_patient_1.json @@ -0,0 +1,104 @@ +{ + "id": "epilepsy,_progressive_myoclonic,_11", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002080", + "label": "Intention tremor" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0001272", + "label": "Cerebellar atrophy" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0001251", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_progressive_myoclonic_1A_Unverricht_and_Lundborg__patient_1.json new file mode 100644 index 000000000..eff225d0a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_progressive_myoclonic_1A_Unverricht_and_Lundborg__patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "epilepsy,_progressive_myoclonic_1a_(unverricht_and_lundborg)", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002069", + "label": "Bilateral tonic-clonic seizure" + } + }, + { + "type": { + "id": "HP:0011182", + "label": "Interictal epileptiform activity" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:254800", + "label": "Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg)" + } + } + ], + "metaData": { + "created": "2024-06-11T21:37:49.355170Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_rolandic_with_paroxysmal_exercise_induced_dystonia_and_writer_s_cramp_patient_1.json new file mode 100644 index 000000000..59546ba45 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epilepsy_rolandic_with_paroxysmal_exercise_induced_dystonia_and_writer_s_cramp_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "epilepsy,_rolandic,_with_paroxysmal_exercise-induced_dystonia_and_writer's_cramp", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P4Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001583", + "label": "Rotary nystagmus" + } + }, + { + "type": { + "id": "HP:0007104", + "label": "Prolonged somatosensory evoked potentials" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + }, + "modifiers": [ + { + "id": "HP:0025377", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epileptic_encephalopathy_early_infantile_24_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "epileptic_encephalopathy,_early_infantile,_24", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" + } + }, + { + "type": { + "id": "HP:0032894", + "label": "Seizure precipitated by febrile infection" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615871", + "label": "Epileptic encephalopathy, early infantile, 24" + } + } + ], + "metaData": { + "created": "2024-06-11T20:48:22.749193Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epileptic_encephalopathy_infantile_or_early_childhood_2_patient_1.json new file mode 100644 index 000000000..38c851635 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epileptic_encephalopathy_infantile_or_early_childhood_2_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "epileptic_encephalopathy,_infantile_or_early_childhood,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002355", + "label": "Difficulty walking" + } + }, + { + "type": { + "id": "HP:0200134", + "label": "Epileptic encephalopathy" + } + }, + { + "type": { + "id": "HP:0100704", + "label": "Cerebral visual impairment" + } + }, + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0002540", + "label": "Inability to walk" + } + }, + { + "type": { + "id": "HP:0100660", + "label": "Dyskinesia" + } + }, + { + "type": { + "id": "HP:0012638", + "label": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_chondrodysplasia_Miura_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_chondrodysplasia_Miura_type_patient_1.json new file mode 100644 index 000000000..4b7e4dc6d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_chondrodysplasia_Miura_type_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "epiphyseal_chondrodysplasia,_miura_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010055", + "label": "Broad hallux" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0000938", + "label": "Osteopenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615923", + "label": "Epiphyseal chondrodysplasia, Miura type" + } + } + ], + "metaData": { + "created": "2024-06-11T21:43:59.187362Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_Baumann_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_Baumann_type_patient_1.json new file mode 100644 index 000000000..58c35dbf1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_Baumann_type_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "epiphyseal_dysplasia,_baumann_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002750", + "label": "Delayed skeletal maturation" + } + }, + { + "type": { + "id": "HP:0100531", + "label": "Wind-swept deformity of the knees" + } + }, + { + "type": { + "id": "HP:0010043", + "label": "Aplasia of the 4th metacarpal" + } + }, + { + "type": { + "id": "HP:0003366", + "label": "Abnormal femoral neck/head morphology" + } + }, + { + "type": { + "id": "HP:0005922", + "label": "Abnormal hand morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610797", + "label": "Epiphyseal dysplasia, Baumann type" + } + } + ], + "metaData": { + "created": "2024-06-11T22:58:48.202670Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_1_patient_1.json new file mode 100644 index 000000000..5b26188ff --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_1_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "epiphyseal_dysplasia,_multiple,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003510", + "label": "Severe short stature" + } + }, + { + "type": { + "id": "HP:0002663", + "label": "Delayed epiphyseal ossification" + } + }, + { + "type": { + "id": "HP:0003502", + "label": "Mild short stature" + } + }, + { + "type": { + "id": "HP:0010585", + "label": "Small epiphyses" + } + }, + { + "type": { + "id": "HP:0010582", + "label": "Irregular epiphyses" + } + }, + { + "type": { + "id": "HP:0008800", + "label": "Limited hip movement" + } + }, + { + "type": { + "id": "HP:0030840", + "label": "Ankle pain" + } + }, + { + "type": { + "id": "HP:0003301", + "label": "Irregular vertebral endplates" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0002761", + "label": "Generalized joint hypermobility" + } + }, + { + "type": { + "id": "HP:0002656", + "label": "Epiphyseal dysplasia" + } + }, + { + "type": { + "id": "HP:0009103", + "label": "Aplasia/Hypoplasia involving the pelvis" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0009638", + "label": "Short proximal phalanx of thumb" + } + }, + { + "type": { + "id": "HP:0100531", + "label": "Wind-swept deformity of the knees" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:132400", + "label": "Epiphyseal dysplasia, multiple, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:55:04.029695Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_2_patient_1.json new file mode 100644 index 000000000..d8f79dfe5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_2_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "epiphyseal_dysplasia,_multiple,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002656", + "label": "Epiphyseal dysplasia" + } + }, + { + "type": { + "id": "HP:0002136", + "label": "Broad-based gait" + } + }, + { + "type": { + "id": "HP:0030839", + "label": "Knee pain" + } + }, + { + "type": { + "id": "HP:0005715", + "label": "Flattened knee epiphyses" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0012431", + "label": "Episodic fatigue" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0010886", + "label": "Osteochondritis dissecans" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0034373", + "label": "External tibial torsion" + } + }, + { + "type": { + "id": "HP:0100531", + "label": "Wind-swept deformity of the knees" + } + }, + { + "type": { + "id": "HP:0003272", + "label": "Abnormal hip bone morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600204", + "label": "Epiphyseal dysplasia, multiple, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:04:31.863694Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_3_with_or_without_myopathy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_3_with_or_without_myopathy_patient_1.json new file mode 100644 index 000000000..df0563eda --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_3_with_or_without_myopathy_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "epiphyseal_dysplasia,_multiple,_3,_with_or_without_myopathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003066", + "label": "Limited knee extension" + } + }, + { + "type": { + "id": "HP:0001384", + "label": "Abnormal hip joint morphology" + } + }, + { + "type": { + "id": "HP:0010049", + "label": "Short metacarpal" + } + }, + { + "type": { + "id": "HP:0030839", + "label": "Knee pain" + } + }, + { + "type": { + "id": "HP:0003236", + "label": "Elevated circulating creatine kinase concentration" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0010585", + "label": "Small epiphyses" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600969", + "label": "Epiphyseal dysplasia, multiple, 3, with or without myopathy" + } + } + ], + "metaData": { + "created": "2024-06-11T18:17:37.235327Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_4_patient_1.json new file mode 100644 index 000000000..58648e6df --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_4_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "epiphyseal_dysplasia,_multiple,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002829", + "label": "Arthralgia" + } + }, + { + "type": { + "id": "HP:0002656", + "label": "Epiphyseal dysplasia" + } + }, + { + "type": { + "id": "HP:0001385", + "label": "Hip dysplasia" + } + }, + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + } + }, + { + "type": { + "id": "HP:0006376", + "label": "Limited elbow flexion" + } + }, + { + "type": { + "id": "HP:0010049", + "label": "Short metacarpal" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:226900", + "label": "Epiphyseal dysplasia, multiple, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T20:32:29.737039Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_5_patient_1.json new file mode 100644 index 000000000..65e9c1036 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_5_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "epiphyseal_dysplasia,_multiple,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010585", + "label": "Small epiphyses" + } + }, + { + "type": { + "id": "HP:0010582", + "label": "Irregular epiphyses" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0010049", + "label": "Short metacarpal" + } + }, + { + "type": { + "id": "HP:0003365", + "label": "Arthralgia of the hip" + } + }, + { + "type": { + "id": "HP:0002829", + "label": "Arthralgia" + } + }, + { + "type": { + "id": "HP:0003090", + "label": "Hypoplasia of the capital femoral epiphysis" + } + }, + { + "type": { + "id": "HP:0002656", + "label": "Epiphyseal dysplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607078", + "label": "Epiphyseal dysplasia, multiple, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T20:50:07.230330Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_6_patient_1.json new file mode 100644 index 000000000..9ee338d80 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_6_patient_1.json @@ -0,0 +1,92 @@ +{ + "id": "epiphyseal_dysplasia,_multiple,_6", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P9Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005645", + "label": "Intervertebral disk calcification" + } + }, + { + "type": { + "id": "HP:0030041", + "label": "Schmorl's node" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0032102", + "label": "Wilson sign" + } + }, + { + "type": { + "id": "HP:0006407", + "label": "Irregular distal femoral epiphysis" + } + }, + { + "type": { + "id": "HP:0003066", + "label": "Limited knee extension" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614135", + "label": "Epiphyseal dysplasia, multiple, 6" + } + } + ], + "metaData": { + "created": "2024-06-11T23:30:01.019144Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_7_patient_1.json new file mode 100644 index 000000000..43473d59f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_7_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "epiphyseal_dysplasia,_multiple,_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002656", + "label": "Epiphyseal dysplasia" + } + }, + { + "type": { + "id": "HP:0003502", + "label": "Mild short stature" + } + }, + { + "type": { + "id": "HP:0002823", + "label": "Abnormal femur morphology" + } + }, + { + "type": { + "id": "HP:0001384", + "label": "Abnormal hip joint morphology" + } + }, + { + "type": { + "id": "HP:0008418", + "label": "Squared-off platyspondyly" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617719", + "label": "Epiphyseal dysplasia, multiple, 7" + } + } + ], + "metaData": { + "created": "2024-06-11T20:33:07.642432Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_with_early_onset_diabetes_mellitus_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_with_early_onset_diabetes_mellitus_patient_1.json new file mode 100644 index 000000000..6dbadecde --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_with_early_onset_diabetes_mellitus_patient_1.json @@ -0,0 +1,212 @@ +{ + "id": "epiphyseal_dysplasia,_multiple,_with_early-onset_diabetes_mellitus", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P3Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003311", + "label": "Hypoplasia of the odontoid process" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0001552", + "label": "Barrel-shaped chest" + } + }, + { + "type": { + "id": "HP:0005922", + "label": "Abnormal hand morphology" + } + }, + { + "type": { + "id": "HP:0009155", + "label": "Cone-shaped epiphysis of the proximal 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_with_myopia_and_conductive_deafness_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_with_myopia_and_conductive_deafness_patient_1.json new file mode 100644 index 000000000..441219936 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_multiple_with_myopia_and_conductive_deafness_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "epiphyseal_dysplasia,_multiple,_with_myopia_and_conductive_deafness", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + }, + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + }, + { + "type": { + "id": "HP:6000367", + "label": "Central thinning of the outer nuclear layer of the retina" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_of_femoral_head_myopia_and_deafness_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_of_femoral_head_myopia_and_deafness_patient_1.json new file mode 100644 index 000000000..1bea4a018 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epiphyseal_dysplasia_of_femoral_head_myopia_and_deafness_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epiphyseal_dysplasia_of_femoral_head,_myopia,_and_deafness", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010574", + "label": "Abnormality of the epiphysis of the femoral head" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:226950", + "label": "Epiphyseal dysplasia of femoral head, myopia, and deafness" + } + } + ], + "metaData": { + "created": "2024-06-11T22:58:15.583190Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_ataxia_type_3_patient_1.json new file mode 100644 index 000000000..e5360edd5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_ataxia_type_3_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "episodic_ataxia,_type_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001324", + "label": "Muscle weakness" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0010532", + "label": "Paroxysmal vertigo" + } + }, + { + "type": { + "id": "HP:0002131", + "label": "Episodic ataxia" + } + }, + { + "type": { + "id": "HP:0000651", + "label": "Diplopia" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606554", + "label": "Episodic ataxia, type 3" + } + } + ], + "metaData": { + "created": 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"episodic_ataxia,_type_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002018", + "label": "Nausea" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606552", + "label": "Episodic ataxia, type 4" + } + } + ], + "metaData": { + "created": "2024-06-11T21:50:41.186718Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_ataxia_type_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_ataxia_type_5_patient_1.json new file mode 100644 index 000000000..97b4fb655 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_ataxia_type_5_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "episodic_ataxia,_type_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002131", + "label": "Episodic ataxia" + } + }, + { + "type": { + "id": "HP:0012462", + "label": "Chin myoclonus" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0008376", + "label": "Nasal dysarthria" + } + }, + { + "type": { + "id": "HP:0011171", + "label": "Simple febrile seizure" + } + }, + { + "type": { + "id": "HP:0001251", + "label": 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000000000..447b2caf6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_ataxia_type_6_patient_1.json @@ -0,0 +1,110 @@ +{ + "id": "episodic_ataxia,_type_6", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002301", + "label": "Hemiplegia" + } + }, + { + "type": { + "id": "HP:0000571", + "label": "Hypometric saccades" + } + }, + { + "type": { + "id": "HP:0002078", + "label": "Truncal ataxia" + } + }, + { + "type": { + "id": "HP:0002321", + "label": "Vertigo" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0002131", + "label": "Episodic ataxia" + }, + "modifiers": [ + { + "id": "HP:0025215", + "label": "Triggered by febrile illness" + } + ] + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0002183", + "label": "Phonophobia" + } + }, + { + "type": { + "id": "HP:0006852", + "label": "Episodic generalized hypotonia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612656", + "label": "Episodic ataxia, type 6" + } + } + ], + "metaData": { + "created": "2024-06-11T22:23:57.714008Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_ataxia_type_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_ataxia_type_7_patient_1.json new file mode 100644 index 000000000..9960d9cd7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_ataxia_type_7_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "episodic_ataxia,_type_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002321", + "label": "Vertigo" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611907", + "label": "Episodic ataxia, type 7" + } + } + ], + "metaData": { + "created": "2024-06-11T17:43:43.064389Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_ataxia_type_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_ataxia_type_8_patient_1.json new file mode 100644 index 000000000..66aff5e35 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_ataxia_type_8_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "episodic_ataxia,_type_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616055", + "label": "Episodic ataxia, type 8" + } + } + ], + "metaData": { + "created": "2024-06-11T23:54:33.564908Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_ataxia_type_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_ataxia_type_9_patient_1.json new file mode 100644 index 000000000..f8500fb31 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_ataxia_type_9_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "episodic_ataxia,_type_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0007193", + "label": "Bilateral tonic-clonic seizure on awakening" + } + }, + { + "type": { + "id": "HP:0001317", + "label": "Abnormal cerebellum morphology" + } + }, + { + "type": { + "id": "HP:0001751", + "label": "Abnormal vestibular function" + } + }, + { + "type": { + "id": "HP:0011389", + "label": "Functional abnormality of the inner ear" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0006976", + "label": "Necrotizing encephalopathy" + } + }, + { + "type": { + "id": "HP:0020219", + "label": "Motor seizure" + } + }, + { + "type": { + "id": "HP:0034783", + "label": "Posttussive emesis" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618924", + "label": "Episodic ataxia, type 9" + } + } + ], + "metaData": { + "created": "2024-06-11T18:53:56.104441Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_kinesigenic_dyskinesia_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_kinesigenic_dyskinesia_1_patient_1.json new file mode 100644 index 000000000..95c31156a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_kinesigenic_dyskinesia_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "episodic_kinesigenic_dyskinesia_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002310", + "label": "Orofacial dyskinesia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:128200", + "label": "Episodic kinesigenic dyskinesia 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:27:21.954466Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_kinesigenic_dyskinesia_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_kinesigenic_dyskinesia_2_patient_1.json new file mode 100644 index 000000000..fff12b218 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_kinesigenic_dyskinesia_2_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "episodic_kinesigenic_dyskinesia_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004305", + "label": "Involuntary movements" + } + }, + { + "type": { + "id": "HP:0007308", + "label": "Extrapyramidal dyskinesia" + }, + "modifiers": [ + { + "id": "HP:0025303", + "label": "Episodic" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611031", + "label": "Episodic kinesigenic dyskinesia 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:23:47.940802Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_kinesigenic_dyskinesia_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_kinesigenic_dyskinesia_3_patient_1.json new file mode 100644 index 000000000..5fa6d8b83 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_kinesigenic_dyskinesia_3_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "episodic_kinesigenic_dyskinesia_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + }, + "modifiers": [ + { + "id": "HP:0025228;HP:0025228", + "label": "Triggered by sudden movement" + } + ] + }, + { + "type": { + "id": "HP:0007098", + "label": "Paroxysmal choreoathetosis" + }, + "modifiers": [ + { + "id": "HP:0025228", + "label": "Triggered by sudden movement" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620245", + "label": "Episodic kinesigenic dyskinesia 3" + } + } + ], + "metaData": { + "created": "2024-06-11T22:42:38.256903Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_muscle_weakness_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_muscle_weakness_X_linked_patient_1.json new file mode 100644 index 000000000..e073d0f54 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_muscle_weakness_X_linked_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "episodic_muscle_weakness,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001324", + "label": "Muscle weakness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300211", + "label": "Episodic muscle weakness, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T23:43:11.884721Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_pain_syndrome_familial_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_pain_syndrome_familial_1_patient_1.json new file mode 100644 index 000000000..604435da5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_pain_syndrome_familial_1_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "episodic_pain_syndrome,_familial,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032148", + "label": "Episodic pain" + }, + "modifiers": [ + { + "id": "HP:0025212", + "label": "Triggered by fasting" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615040", + "label": "Episodic pain syndrome, familial, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:41:36.520964Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_pain_syndrome_familial_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_pain_syndrome_familial_2_patient_1.json new file mode 100644 index 000000000..11c9750c0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_pain_syndrome_familial_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "episodic_pain_syndrome,_familial,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012534", + "label": "Dysesthesia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615551", + "label": "Episodic pain syndrome, familial, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:09:36.431376Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_pain_syndrome_familial_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_pain_syndrome_familial_3_patient_1.json new file mode 100644 index 000000000..38829c865 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Episodic_pain_syndrome_familial_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "episodic_pain_syndrome,_familial,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012531", + "label": "Pain" + }, + "modifiers": [ + { + "id": "HP:0025303", + "label": "Episodic" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615552", + "label": "Episodic pain syndrome, familial, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T17:43:40.762657Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epistaxis_hereditary_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epistaxis_hereditary_patient_1.json new file mode 100644 index 000000000..551e39c49 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epistaxis_hereditary_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "epistaxis,_hereditary", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000421", + "label": "Epistaxis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:132500", + "label": "Epistaxis, hereditary" + } + } + ], + "metaData": { + "created": "2024-06-11T20:52:51.279278Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Epithelial_recurrent_erosion_dystrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epithelial_recurrent_erosion_dystrophy_patient_1.json new file mode 100644 index 000000000..57bf09b7e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Epithelial_recurrent_erosion_dystrophy_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "epithelial_recurrent_erosion_dystrophy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + }, + { + "type": { + "id": "HP:0031734", + "label": "Lacrimal pump failure" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:122400", + "label": "Epithelial recurrent erosion dystrophy" + } + } + ], + "metaData": { + "created": "2024-06-11T18:25:40.908274Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ermine_phenotype_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ermine_phenotype_patient_1.json new file mode 100644 index 000000000..106d2c240 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ermine_phenotype_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "ermine_phenotype", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002227", + "label": "White eyelashes" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0002226", + "label": "White eyebrow" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:227010", + "label": "Ermine phenotype" + } + } + ], + "metaData": { + "created": "2024-06-11T20:11:53.681626Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythema_nodosum_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythema_nodosum_familial_patient_1.json new file mode 100644 index 000000000..85833c03e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythema_nodosum_familial_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "erythema_nodosum,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012219", + "label": "Erythema nodosum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:132990", + "label": "Erythema nodosum, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T19:06:28.331628Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythema_of_acral_regions_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythema_of_acral_regions_patient_1.json new file mode 100644 index 000000000..90fe68d3a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythema_of_acral_regions_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "erythema_of_acral_regions", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010783", + "label": "Erythema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:227000", + "label": "Erythema of acral regions" + } + } + ], + "metaData": { + "created": "2024-06-11T20:13:53.194787Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythema_palmare_hereditarium_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythema_palmare_hereditarium_patient_1.json new file mode 100644 index 000000000..7820b6eb0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythema_palmare_hereditarium_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "erythema_palmare_hereditarium", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010783", + "label": "Erythema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:133000", + "label": "Erythema palmare hereditarium" + } + } + ], + "metaData": { + "created": "2024-06-11T21:24:07.541302Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythermalgia_primary_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythermalgia_primary_patient_1.json new file mode 100644 index 000000000..69acfe0ce --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythermalgia_primary_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "erythermalgia,_primary", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001962", + "label": "Palpitations" + } + }, + { + "type": { + "id": "HP:0040264", + "label": "Jaw pain" + } + }, + { + "type": { + "id": "HP:0000975", + "label": "Hyperhidrosis" + } + }, + { + "type": { + "id": "HP:0003326", + "label": "Myalgia" + } + }, + { + "type": { + "id": "HP:0012451", + "label": "Acute constipation" + } + }, + { + "type": { + "id": "HP:0000217", + "label": "Xerostomia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:133020", + "label": "Erythermalgia, primary" + } + } + ], + "metaData": { + "created": "2024-06-11T19:24:41.834378Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocyte_lactate_transporter_defect_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocyte_lactate_transporter_defect_patient_1.json new file mode 100644 index 000000000..0029885e5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocyte_lactate_transporter_defect_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "erythrocyte_lactate_transporter_defect", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003236", + "label": "Elevated circulating creatine kinase concentration" + } + }, + { + "type": { + "id": "HP:0003710", + "label": "Exercise-induced muscle cramps" + } + }, + { + "type": { + "id": "HP:0008967", + "label": "Exercise-induced muscle stiffness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:245340", + "label": "Erythrocyte lactate transporter defect" + } + } + ], + "metaData": { + "created": "2024-06-11T18:51:18.577015Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_6_patient_1.json new file mode 100644 index 000000000..1707ae290 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_6_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "erythrocytosis_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001901", + "label": "Polycythemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617980", + "label": "Erythrocytosis 6" + } + } + ], + "metaData": { + "created": "2024-06-12T02:16:38.987823Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_7_patient_1.json new file mode 100644 index 000000000..c7c6bb522 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_7_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "erythrocytosis_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001899", + "label": "Increased hematocrit" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617981", + "label": "Erythrocytosis 7" + } + } + ], + "metaData": { + "created": "2024-06-12T00:50:04.256834Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_familial_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_familial_1_patient_1.json new file mode 100644 index 000000000..80a054e13 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_familial_1_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "erythrocytosis,_familial,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001900", + "label": "Increased circulating hemoglobin concentration" + } + }, + { + "type": { + "id": "HP:0002321", + "label": "Vertigo" + } + }, + { + "type": { + "id": "HP:0001744", + "label": "Splenomegaly" + } + }, + { + "type": { + "id": "HP:0001899", + "label": "Increased hematocrit" + } + }, + { + "type": { + "id": "HP:0002875", + "label": "Exertional dyspnea" + } + }, + { + "type": { + "id": "HP:0001342", + "label": "Cerebral hemorrhage" + } + }, + { + "type": { + "id": "HP:0002641", + "label": "Peripheral thrombosis" + } + }, + { + "type": { + "id": "HP:0001658", + "label": "Myocardial infarction" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:133100", + "label": "Erythrocytosis, familial, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:18:50.755513Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_familial_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_familial_2_patient_1.json new file mode 100644 index 000000000..d2ad0d74b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_familial_2_patient_1.json @@ -0,0 +1,98 @@ +{ + "id": "erythrocytosis,_familial,_2", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033644", + "label": "Elevated circulating erythropoietin concentration" + } + }, + { + "type": { + "id": "HP:0001900", + "label": "Increased circulating hemoglobin concentration" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0410272", + "label": "Vulvar hemangioma" + } + }, + { + "type": { + "id": "HP:0001899", + "label": "Increased hematocrit" + } + }, + { + "type": { + "id": "HP:0001977", + "label": "Abnormal thrombosis" + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0002331", + "label": "Recurrent paroxysmal headache" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:263400", + "label": "Erythrocytosis, familial, 2" + } + } + ], + "metaData": { + "created": "2024-06-12T02:21:07.826031Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_familial_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_familial_3_patient_1.json new file mode 100644 index 000000000..555321487 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_familial_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "erythrocytosis,_familial,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001898", + "label": "Increased red blood cell mass" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609820", + "label": "Erythrocytosis, familial, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T23:54:13.117489Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_familial_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_familial_4_patient_1.json new file mode 100644 index 000000000..a672fed42 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_familial_4_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "erythrocytosis,_familial,_4", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P57Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001900", + "label": "Increased circulating hemoglobin concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611783", + "label": "Erythrocytosis, familial, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T19:48:15.682828Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_familial_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_familial_5_patient_1.json new file mode 100644 index 000000000..30b776928 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_familial_5_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "erythrocytosis,_familial,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003117", + "label": "Abnormal circulating hormone concentration" + } + }, + { + "type": { + "id": "HP:0001899", + "label": "Increased hematocrit" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617907", + "label": "Erythrocytosis, familial, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T20:03:57.723527Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_familial_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_familial_8_patient_1.json new file mode 100644 index 000000000..5262c2d6e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrocytosis_familial_8_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "erythrocytosis,_familial,_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001901", + "label": "Polycythemia" + } + }, + { + "type": { + "id": "HP:6000557", + "label": "Reduced erythrocyte bisphosphoglycerate mutase activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:222800", + "label": "Erythrocytosis, familial, 8" + } + } + ], + "metaData": { + "created": "2024-06-11T19:48:16.198515Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythroderma_congenital_with_palmoplantar_keratoderma_hypotrichosis_and_hyper_ige_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythroderma_congenital_with_palmoplantar_keratoderma_hypotrichosis_and_hyper_ige_patient_1.json new file mode 100644 index 000000000..a6c4416af --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythroderma_congenital_with_palmoplantar_keratoderma_hypotrichosis_and_hyper_ige_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "erythroderma,_congenital,_with_palmoplantar_keratoderma,_hypotrichosis,_and_hyper-ige", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008070", + "label": "Sparse hair" + } + }, + { + "type": { + "id": "HP:0025114", + "label": "Hypergranulosis" + } + }, + { + "type": { + "id": "HP:0000982", + "label": "Palmoplantar keratoderma" + } + }, + { + "type": { + "id": "HP:0008850", + "label": "Severe postnatal growth retardation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615508", + "label": "Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper-ige" + } + } + ], + "metaData": { + "created": "2024-06-11T20:41:23.824038Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythroderma_ichthyosiform_congenital_reticular_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythroderma_ichthyosiform_congenital_reticular_patient_1.json new file mode 100644 index 000000000..036a168da --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythroderma_ichthyosiform_congenital_reticular_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "erythroderma,_ichthyosiform,_congenital_reticular", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001019", + "label": "Erythroderma" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + }, + { + "type": { + "id": "HP:0002557", + "label": "Hypoplastic nipples" + } + }, + { + "type": { + "id": "HP:0000972", + "label": "Palmoplantar hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609165", + "label": "Erythroderma, ichthyosiform, congenital reticular" + } + } + ], + "metaData": { + "created": "2024-06-11T23:07:22.049197Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythroderma_lethal_congenital_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythroderma_lethal_congenital_patient_1.json new file mode 100644 index 000000000..c237ca6bd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythroderma_lethal_congenital_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "erythroderma,_lethal_congenital", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:227090", + "label": "Erythroderma, lethal congenital" + } + } + ], + "metaData": { + "created": "2024-06-11T23:09:32.780305Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrokeratodermia_variabilis_et_progressiva_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrokeratodermia_variabilis_et_progressiva_1_patient_1.json new file mode 100644 index 000000000..d171a0058 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrokeratodermia_variabilis_et_progressiva_1_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "erythrokeratodermia_variabilis_et_progressiva_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025114", + "label": "Hypergranulosis" + } + }, + { + "type": { + "id": "HP:0011368", + "label": "Epidermal thickening" + } + }, + { + "type": { + "id": "HP:0007381", + "label": "Congenital exfoliative erythroderma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:133200", + "label": "Erythrokeratodermia variabilis et progressiva 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:31:55.713965Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrokeratodermia_variabilis_et_progressiva_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrokeratodermia_variabilis_et_progressiva_2_patient_1.json new file mode 100644 index 000000000..5d36084a9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrokeratodermia_variabilis_et_progressiva_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "erythrokeratodermia_variabilis_et_progressiva_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010783", + "label": "Erythema" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617524", + "label": "Erythrokeratodermia variabilis et progressiva 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:54:15.893722Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrokeratodermia_variabilis_et_progressiva_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrokeratodermia_variabilis_et_progressiva_3_patient_1.json new file mode 100644 index 000000000..44d57c861 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrokeratodermia_variabilis_et_progressiva_3_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "erythrokeratodermia_variabilis_et_progressiva_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040162", + "label": "Orthokeratosis" + } + }, + { + "type": { + "id": "HP:0010783", + "label": "Erythema" + } + }, + { + "type": { + "id": "HP:0025114", + "label": "Hypergranulosis" + } + }, + { + "type": { + "id": "HP:0000222", + "label": "Gingival hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617525", + "label": "Erythrokeratodermia variabilis et progressiva 3" + } + } + ], + "metaData": { + "created": "2024-06-11T20:48:54.743035Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrokeratodermia_variabilis_et_progressiva_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrokeratodermia_variabilis_et_progressiva_4_patient_1.json new file mode 100644 index 000000000..453c41d77 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrokeratodermia_variabilis_et_progressiva_4_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "erythrokeratodermia_variabilis_et_progressiva_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000962", + "label": "Hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0011276", + "label": "Vascular skin abnormality" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617526", + "label": "Erythrokeratodermia variabilis et progressiva 4" + } + } + ], + "metaData": { + "created": "2024-06-11T20:24:33.277785Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrokeratodermia_variabilis_et_progressiva_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrokeratodermia_variabilis_et_progressiva_5_patient_1.json new file mode 100644 index 000000000..0685f13d8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrokeratodermia_variabilis_et_progressiva_5_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "erythrokeratodermia_variabilis_et_progressiva_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000972", + "label": "Palmoplantar hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0001805", + "label": "Onychogryposis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617756", + "label": "Erythrokeratodermia variabilis et progressiva 5" + } + } + ], + "metaData": { + "created": "2024-06-11T18:14:10.630648Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrokeratodermia_variabilis_et_progressiva_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrokeratodermia_variabilis_et_progressiva_7_patient_1.json new file mode 100644 index 000000000..8334130e2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrokeratodermia_variabilis_et_progressiva_7_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "erythrokeratodermia_variabilis_et_progressiva_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001810", + "label": "Dystrophic toenail" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619209", + "label": "Erythrokeratodermia variabilis et progressiva 7" + } + } + ], + "metaData": { + "created": "2024-06-11T17:58:18.918872Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrokeratodermia_veriabilis_et_progressiva_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrokeratodermia_veriabilis_et_progressiva_6_patient_1.json new file mode 100644 index 000000000..73cafdfba --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythrokeratodermia_veriabilis_et_progressiva_6_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "erythrokeratodermia_veriabilis_et_progressiva_6", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000989", + "label": "Pruritus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618531", + "label": "Erythrokeratodermia veriabilis et progressiva 6" + } + } + ], + "metaData": { + "created": "2024-06-11T23:25:52.644048Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythroleukemia_familial_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythroleukemia_familial_susceptibility_to_patient_1.json new file mode 100644 index 000000000..a9f96a611 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Erythroleukemia_familial_susceptibility_to_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "erythroleukemia,_familial,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012132", + "label": "Erythroid hyperplasia" + } + }, + { + "type": { + "id": "HP:0002664", + "label": "Neoplasm" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0004377", + "label": "Hematological neoplasm" + } + }, + { + "type": { + "id": "HP:0004859", + "label": "Amegakaryocytic thrombocytopenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:133180", + "label": "Erythroleukemia, familial, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T19:57:04.181085Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Escobar_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Escobar_syndrome_patient_1.json new file mode 100644 index 000000000..285a7625c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Escobar_syndrome_patient_1.json @@ -0,0 +1,285 @@ +{ + "id": "escobar_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0000689", + "label": "Dental malocclusion" + } + }, + { + "type": { + "id": "HP:0002804", + "label": "Arthrogryposis multiplex congenita" + } + }, + { + "type": { + "id": "HP:0002714", + "label": "Downturned corners of mouth" + } + }, + { + "type": { + "id": "HP:0030319", + "label": "Weakness of facial musculature" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0001558", + "label": "Decreased fetal movement" + } + }, + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0002944", + "label": "Thoracolumbar scoliosis" + } + }, + { + "type": { + "id": "HP:0001838", + "label": "Rocker bottom foot" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0001558", + "label": "Decreased fetal movement" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + }, + { + "type": { + "id": "HP:0000405", + "label": "Conductive hearing impairment" + } + }, + { + "type": { + "id": "HP:0009756", + "label": "Popliteal pterygium" + } + }, + { + "type": { + "id": "HP:0002089", + "label": "Pulmonary hypoplasia" + } + }, + { + "type": { + "id": "HP:0009759", + "label": "Neck pterygia" + } + }, + { + "type": { + "id": "HP:0011844", + "label": "Abnormal appendicular skeleton morphology" + } + }, + { + "type": { + "id": "HP:0003468", + "label": 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+++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Esophageal_cancer_somatic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "esophageal_cancer,_somatic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011459", + "label": "Esophageal carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:133239", + "label": "Esophageal cancer, somatic" + } + } + ], + "metaData": { + "created": "2024-06-11T21:55:48.019110Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Esophageal_ring_lower_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Esophageal_ring_lower_patient_1.json new file mode 100644 index 000000000..0f1c10bbf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Esophageal_ring_lower_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "esophageal_ring,_lower", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002015", + "label": "Dysphagia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:133240", + "label": "Esophageal ring, lower" + } + } + ], + "metaData": { + "created": "2024-06-11T18:02:52.508539Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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000000000..6279cd379 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Esophagitis_eosinophilic_2_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "esophagitis,_eosinophilic,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0002015", + "label": "Dysphagia" + } + }, + { + "type": { + "id": "HP:0100633", + "label": "Esophagitis" + } + }, + { + "type": { + "id": "HP:0010987", + "label": "Abnormal cellular immune system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613412", + "label": "Esophagitis, eosinophilic, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:31:21.448456Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Estrogen_resistance_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Estrogen_resistance_patient_1.json new file mode 100644 index 000000000..1936a7a6c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Estrogen_resistance_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "estrogen_resistance", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001061", + "label": "Acne" + } + }, + { + "type": { + "id": "HP:0025134", + "label": "Increased serum estradiol" + } + }, + { + "type": { + "id": "HP:0001952", + "label": "Glucose intolerance" + } + }, + { + "type": { + "id": "HP:0000938", + "label": "Osteopenia" + } + }, + { + "type": { + "id": "HP:0000013", + "label": "Hypoplasia of the uterus" + } + }, + { + "type": { + "id": "HP:0000147", + "label": "Polycystic ovaries" + } + }, + { + "type": { + "id": "HP:0031428", + "label": "Increased circulating osteocalcin level" + } + }, + { + "type": { + "id": "HP:0010639", + "label": "Elevated alkaline phosphatase of bone origin" + } + }, + { + "type": { + "id": "HP:0000823", + "label": "Delayed puberty" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615363", + "label": "Estrogen resistance" + } + } + ], + "metaData": { + "created": "2024-06-11T23:20:30.027193Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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"namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ewing_sarcoma_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ewing_sarcoma_patient_1.json new file mode 100644 index 000000000..34bd5f99b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ewing_sarcoma_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ewing_sarcoma", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012254", + "label": "Ewing sarcoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612219", + "label": "Ewing sarcoma" + } + } + ], + "metaData": { 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exchondrosis_of_pinna_posterior_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "exchondrosis_of_pinna,_posterior", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000598", + "label": "Abnormality of the ear" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:133500", + "label": "Exchondrosis of pinna, posterior" + } + } + ], + "metaData": { + "created": "2024-06-11T23:34:33.893068Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Exercise_intolerance_riboflavin_responsive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exercise_intolerance_riboflavin_responsive_patient_1.json new file mode 100644 index 000000000..e7ce6855c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exercise_intolerance_riboflavin_responsive_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "exercise_intolerance,_riboflavin-responsive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003546", + "label": "Exercise intolerance" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616839", + "label": "Exercise intolerance, riboflavin-responsive" + } + } + ], + "metaData": { + "created": "2024-06-11T21:15:37.099258Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Exfoliation_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exfoliation_syndrome_patient_1.json new file mode 100644 index 000000000..3728ff502 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exfoliation_syndrome_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "exfoliation_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009916", + "label": "Anisocoria" + } + }, + { + "type": { + "id": "HP:0012635", + "label": "Iris hypoperfusion" + } + }, + { + "type": { + "id": "HP:0012631", + "label": "Pigment deposition in the trabecular meshwork" + } + }, + { + "type": { + "id": "HP:0012373", + "label": "Abnormal eye physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:177650", + "label": "Exfoliation syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:12:15.927601Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Exocrine_pancreatic_insufficiency_dyserythropoietic_anemia_and_calvarialhyperostosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exocrine_pancreatic_insufficiency_dyserythropoietic_anemia_and_calvarialhyperostosis_patient_1.json new file mode 100644 index 000000000..4d1c53f34 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exocrine_pancreatic_insufficiency_dyserythropoietic_anemia_and_calvarialhyperostosis_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "exocrine_pancreatic_insufficiency,_dyserythropoietic_anemia,_and_calvarialhyperostosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000988", + "label": "Skin rash" + } + }, + { + "type": { + "id": "HP:0000938", + "label": "Osteopenia" + } + }, + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0004395", + "label": "Malnutrition" + } + }, + { + "type": { + "id": "HP:0002099", + "label": "Asthma" + } + }, + { + "type": { + "id": "HP:0010972", + "label": "Anemia of inadequate production" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612714", + "label": "Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarialhyperostosis" + } + } + ], + "metaData": { + "created": "2024-06-11T20:19:57.923060Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Exostoses_multiple_type_III_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exostoses_multiple_type_III_patient_1.json new file mode 100644 index 000000000..80da1d9fb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exostoses_multiple_type_III_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "exostoses,_multiple,_type_iii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002762", + "label": "Multiple exostoses" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600209", + "label": "Exostoses, multiple, type III" + } + } + ], + "metaData": { + "created": "2024-06-11T22:59:36.501580Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Exostoses_multiple_type_II_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exostoses_multiple_type_II_patient_1.json new file mode 100644 index 000000000..a98d92320 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exostoses_multiple_type_II_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "exostoses,_multiple,_type_ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010049", + "label": "Short metacarpal" + } + }, + { + "type": { + "id": "HP:0002812", + "label": "Coxa vara" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0005788", + "label": "Abnormal cervical myelogram" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:133701", + "label": "Exostoses, multiple, type II" + } + } + ], + "metaData": { + "created": "2024-06-12T00:13:38.928399Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Exostoses_multiple_type_I_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exostoses_multiple_type_I_patient_1.json new file mode 100644 index 000000000..b4e4c2090 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exostoses_multiple_type_I_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "exostoses,_multiple,_type_i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003068", + "label": "Madelung-like forearm deformities" + } + }, + { + "type": { + "id": "HP:0006765", + "label": "Chondrosarcoma" + } + }, + { + "type": { + "id": "HP:0002812", + "label": "Coxa vara" + } + }, + { + "type": { + "id": "HP:0003105", + "label": "Protuberances at ends of long bones" + } + }, + { + "type": { + "id": "HP:0100777", + "label": "Exostoses" + } + }, + { + "type": { + "id": "HP:0000918", + "label": "Scapular exostoses" + } + }, + { + "type": { + "id": "HP:0005788", + "label": "Abnormal cervical myelogram" + } + }, + { + "type": { + "id": "HP:0003276", + "label": "Pelvic bone exostoses" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:133700", + "label": "Exostoses, multiple, type I" + } + } + ], + "metaData": { + "created": "2024-06-12T02:21:54.913853Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Exostoses_of_heel_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exostoses_of_heel_patient_1.json new file mode 100644 index 000000000..6357de7df --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exostoses_of_heel_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "exostoses_of_heel", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000924", + "label": "Abnormality of the skeletal system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:133600", + "label": "Exostoses of heel" + } + } + ], + "metaData": { + "created": "2024-06-11T22:01:47.189030Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Exostoses_with_anetodermia_and_brachydactyly_type_E_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exostoses_with_anetodermia_and_brachydactyly_type_E_patient_1.json new file mode 100644 index 000000000..739ed91d8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exostoses_with_anetodermia_and_brachydactyly_type_E_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "exostoses_with_anetodermia_and_brachydactyly,_type_e", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005863", + "label": "Type E brachydactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:133690", + "label": "Exostoses with anetodermia and brachydactyly, type E" + } + } + ], + "metaData": { + "created": "2024-06-11T18:22:17.020976Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Exstrophy_of_bladder_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exstrophy_of_bladder_patient_1.json new file mode 100644 index 000000000..1524abf3c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exstrophy_of_bladder_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "exstrophy_of_bladder", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000039", + "label": "Epispadias" + } + }, + { + "type": { + "id": "HP:0000023", + "label": "Inguinal hernia" + } + }, + { + "type": { + "id": "HP:0000072", + "label": "Hydroureter" + } + }, + { + "type": { + "id": "HP:0000122", + "label": "Unilateral renal agenesis" + } + }, + { + "type": { + "id": "HP:0011844", + "label": "Abnormal appendicular skeleton morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600057", + "label": "Exstrophy of bladder" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:36.888416Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/External_auditory_canal_bilateral_atresia_of_with_congenital_verticaltalus_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/External_auditory_canal_bilateral_atresia_of_with_congenital_verticaltalus_patient_1.json new file mode 100644 index 000000000..59f6f3119 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/External_auditory_canal_bilateral_atresia_of_with_congenital_verticaltalus_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "external_auditory_canal,_bilateral_atresia_of,_with_congenital_verticaltalus", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009237", + "label": "Short 5th finger" + } + }, + { + "type": { + "id": "HP:0000577", + "label": "Exotropia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:133705", + "label": "External auditory canal, bilateral atresia of, with congenital verticaltalus" + } + } + ], + "metaData": { + "created": "2024-06-11T23:04:39.733574Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Extraoral_halitosis_due_to_MTO_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Extraoral_halitosis_due_to_MTO_deficiency_patient_1.json new file mode 100644 index 000000000..eaa979d7d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Extraoral_halitosis_due_to_MTO_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "extraoral_halitosis_due_to_mto_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100812", + "label": "Halitosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618148", + "label": "Extraoral halitosis due to MTO deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T19:37:35.540572Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Exudative_vitreoretinopathy_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exudative_vitreoretinopathy_1_patient_1.json new file mode 100644 index 000000000..ba9be445e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exudative_vitreoretinopathy_1_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "exudative_vitreoretinopathy_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0007685", + "label": "Peripheral retinal avascularization" + } + }, + { + "type": { + "id": "HP:0000541", + "label": "Retinal detachment" + } + }, + { + "type": { + "id": "HP:0011530", + "label": "Retinal hole" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:133780", + "label": "Exudative vitreoretinopathy 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:41:24.271920Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Exudative_vitreoretinopathy_2_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exudative_vitreoretinopathy_2_X_linked_patient_1.json new file mode 100644 index 000000000..76494f1e8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exudative_vitreoretinopathy_2_X_linked_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "exudative_vitreoretinopathy_2,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012841", + "label": "Retinal vascular tortuosity" + } + }, + { + "type": { + "id": "HP:0008052", + "label": "Retinal fold" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0011532", + "label": "Subretinal exudate" + } + }, + { + "type": { + "id": "HP:0000490", + "label": "Deeply set eye" + } + }, + { + "type": { + "id": "HP:0007710", + "label": "Peripheral vitreous opacities" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:305390", + "label": "Exudative vitreoretinopathy 2, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T22:55:27.044433Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Exudative_vitreoretinopathy_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exudative_vitreoretinopathy_3_patient_1.json new file mode 100644 index 000000000..fe18c7f09 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exudative_vitreoretinopathy_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "exudative_vitreoretinopathy_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000479", + "label": "Abnormal retinal morphology" + } + }, + { + "type": { + "id": "HP:0000479", + "label": "Abnormal retinal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605750", + "label": "Exudative vitreoretinopathy 3" + } + } + ], + "metaData": { + "created": "2024-06-11T18:56:36.165700Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Exudative_vitreoretinopathy_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exudative_vitreoretinopathy_4_patient_1.json new file mode 100644 index 000000000..5fed159dd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exudative_vitreoretinopathy_4_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "exudative_vitreoretinopathy_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001147", + "label": "Retinal exudate" + } + }, + { + "type": { + "id": "HP:0007811", + "label": "Horizontal pendular nystagmus" + } + }, + { + "type": { + "id": "HP:0000618", + "label": "Blindness" + } + }, + { + "type": { + "id": "HP:0007685", + "label": "Peripheral retinal avascularization" + } + }, + { + "type": { + "id": "HP:0030490", + "label": "Exudative vitreoretinopathy" + } + }, + { + "type": { + "id": "HP:0007902", + "label": "Vitreous hemorrhage" + } + }, + { + "type": { + "id": "HP:0000938", + "label": "Osteopenia" + } + }, + { + "type": { + "id": "HP:0000523", + "label": "Subcapsular cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601813", + "label": "Exudative vitreoretinopathy 4" + } + } + ], + "metaData": { + "created": "2024-06-11T20:23:26.527420Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Exudative_vitreoretinopathy_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exudative_vitreoretinopathy_5_patient_1.json new file mode 100644 index 000000000..3e9cbdfe6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exudative_vitreoretinopathy_5_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "exudative_vitreoretinopathy_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030490", + "label": "Exudative vitreoretinopathy" + } + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0001147", + "label": "Retinal exudate" + } + }, + { + "type": { + "id": "HP:0000594", + "label": "Shallow anterior chamber" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613310", + "label": "Exudative vitreoretinopathy 5" + } + } + ], + "metaData": { + "created": "2024-06-12T02:21:07.899434Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Exudative_vitreoretinopathy_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exudative_vitreoretinopathy_6_patient_1.json new file mode 100644 index 000000000..6d25028bf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exudative_vitreoretinopathy_6_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "exudative_vitreoretinopathy_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030490", + "label": "Exudative vitreoretinopathy" + } + }, + { + "type": { + "id": "HP:0000529", + "label": "Progressive visual loss" + } + }, + { + "type": { + "id": "HP:0000533", + "label": "Chorioretinal atrophy" + } + }, + { + "type": { + "id": "HP:0007917", + "label": "Tractional retinal detachment" + } + }, + { + "type": { + "id": "HP:0000541", + "label": "Retinal detachment" + } + }, + { + "type": { + "id": "HP:0020045", + "label": "Esodeviation" + } + }, + { + "type": { + "id": "HP:0007791", + "label": "Patchy atrophy of the retinal pigment epithelium" + } + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0025573", + "label": "Mild myopia" + } + }, + { + "type": { + "id": "HP:0000479", + "label": "Abnormal retinal morphology" + } + }, + { + "type": { + "id": "HP:0007811", + "label": "Horizontal pendular nystagmus" + } + }, + { + "type": { + "id": "HP:0007787", + "label": "Posterior subcapsular cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616468", + "label": "Exudative vitreoretinopathy 6" + } + } + ], + "metaData": { + "created": "2024-06-11T23:23:01.166346Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Exudative_vitreoretinopathy_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exudative_vitreoretinopathy_7_patient_1.json new file mode 100644 index 000000000..df1d86e2d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Exudative_vitreoretinopathy_7_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "exudative_vitreoretinopathy_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617572", + "label": "Exudative vitreoretinopathy 7" + } + } + ], + "metaData": { + "created": "2024-06-12T01:59:29.064849Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/FANCONI_ANEMIA_COMPLEMENTATION_GROUP_U_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/FANCONI_ANEMIA_COMPLEMENTATION_GROUP_U_patient_1.json new file mode 100644 index 000000000..f8edbb00d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/FANCONI_ANEMIA_COMPLEMENTATION_GROUP_U_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "fanconi_anemia,_complementation_group_u", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011835", + "label": "Absent scaphoid" + } + }, + { + "type": { + "id": "HP:0001643", + "label": "Patent ductus arteriosus" + } + }, + { + "type": { + "id": "HP:0008850", + "label": "Severe postnatal growth retardation" + } + }, + { + "type": { + "id": "HP:0000125", + "label": "Pelvic kidney" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617247", + "label": "FANCONI ANEMIA, COMPLEMENTATION GROUP U" + } + } + ], + "metaData": { + "created": "2024-06-11T19:36:58.737902Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + 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"label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0012450", + "label": "Chronic constipation" + } + }, + { + "type": { + "id": "HP:0000752", + "label": "Hyperactivity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300406", + "label": "FG syndrome 3" + } + } + ], + "metaData": { + "created": "2024-06-11T23:28:25.407821Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/FG_syndrome_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/FG_syndrome_5_patient_1.json new file mode 100644 index 000000000..17fd9d165 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/FG_syndrome_5_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "fg_syndrome_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003196", + "label": "Short nose" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0000549", + "label": "Abnormal conjugate eye movement" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300581", + "label": "FG syndrome 5" + } + } + ], + "metaData": { + "created": "2024-06-11T18:46:05.038087Z", + "createdBy": 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"age": { + "iso8601duration": "P63Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034864", + "label": "Decreased alpha-galactosidase A activity" + } + }, + { + "type": { + "id": "HP:0007207", + "label": "Photosensitive tonic-clonic seizure" + } + }, + { + "type": { + "id": "HP:0012702", + "label": "Tenesmus" + } + }, + { + "type": { + "id": "HP:0025089", + "label": "Feculent vomiting" + } + }, + { + "type": { + "id": "HP:0031989", + "label": "Perioral spasm" + } + }, + { + "type": { + "id": "HP:0001071", + "label": "Angiokeratoma corporis diffusum" + } + }, + { + "type": { + "id": "HP:0012173", + "label": "Orthostatic tachycardia" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + }, + { + "type": { + "id": "HP:0012614", + "label": "Abnormal urine cytology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003584", + "label": "Late onset" + } + } + }, + { + "type": { + "id": "HP:0005144", + "label": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Facial_clefting_oblique_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Facial_clefting_oblique_1_patient_1.json new file mode 100644 index 000000000..5ddfdcead --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Facial_clefting_oblique_1_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "facial_clefting,_oblique,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0031576", + "label": "Tessier number 4 facial cleft" + } + }, + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600251", + "label": "Facial clefting, oblique, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:57:57.394773Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Facial_dysmorphism_hypertrichosis_epilepsy_intellectual_developmental_delay_and_gingival_overgrowth_syndrome_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "facial_dysmorphism,_hypertrichosis,_epilepsy,_intellectual/developmental_delay,_and_gingival_overgrowth_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000574", + "label": "Thick eyebrow" + } + }, + { + "type": { + "id": "HP:0100874", + "label": "Thick hair" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0010862", + "label": "Delayed fine motor development" + } + }, + { + "type": { + "id": "HP:0000998", + "label": "Hypertrichosis" + }, + "modifiers": [ + { + "id": "HP:0012837", + "label": "Generalized" + } + ] + }, + { + "type": { + "id": "HP:0000527", + "label": "Long eyelashes" 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+ "label": "Decreased circulating total IgM" + } + }, + { + "type": { + "id": "HP:0000337", + "label": "Broad forehead" + } + }, + { + "type": { + "id": "HP:0002721", + "label": "Immunodeficiency" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0007421", + "label": "Telangiectases of the cheeks" + } + }, + { + "type": { + "id": "HP:0000272", + "label": "Malar flattening" + } + }, + { + "type": { + "id": "HP:0004482", + "label": "Relative macrocephaly" + } + }, + { + "type": { + "id": "HP:0002788", + "label": "Recurrent upper respiratory tract infections" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615139", + "label": "Facial dysmorphism, immunodeficiency, livedo, and short stature" + } + } + ], + "metaData": { + "created": "2024-06-11T22:23:57.809543Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Facial_dysmorphism_lens_dislocation_anterior_segment_abnormalities_and_spontaneous_filtering_blebs_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "facial_dysmorphism,_lens_dislocation,_anterior_segment_abnormalities,_and_spontaneous_filtering_blebs", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001083", + "label": "Ectopia lentis" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0011003", + "label": "High myopia" + } + }, + { + "type": { + "id": "HP:0034375", + "label": "Spherophakia" + } + }, + { + "type": { + "id": "HP:0000278", + "label": "Retrognathia" + } + }, + { + "type": { + "id": "HP:0000445", + "label": "Wide nose" + } + }, + { + "type": { + "id": "HP:0200006", + "label": "Slanting of the palpebral fissure" + } + }, + { + "type": { + "id": 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{ + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0010628", + "label": "Facial palsy" + } + }, + { + "type": { + "id": "HP:0002015", + "label": "Dysphagia" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0001611", + "label": "Hypernasal speech" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617732", + "label": "Facial palsy, congenital, with ptosis and velopharyngeal dysfunction" + } + } + ], + "metaData": { + "created": "2024-06-11T20:56:33.972970Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Facial_palsy_familial_recurrent_peripheral_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Facial_palsy_familial_recurrent_peripheral_patient_1.json new file mode 100644 index 000000000..8523bbda0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Facial_palsy_familial_recurrent_peripheral_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "facial_palsy,_familial_recurrent_peripheral", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010628", + "label": "Facial palsy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:134200", + "label": "Facial palsy, familial recurrent peripheral" + } + } + ], + "metaData": { + "created": "2024-06-11T19:52:38.249999Z", + "createdBy": 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"facial_paresis,_hereditary_congenital,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008000", + "label": "Decreased corneal reflex" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601471", + "label": "Facial paresis, hereditary congenital, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:15:45.520326Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Facial_paresis_hereditary_congenital_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Facial_paresis_hereditary_congenital_2_patient_1.json new file mode 100644 index 000000000..9400f8537 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Facial_paresis_hereditary_congenital_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "facial_paresis,_hereditary_congenital,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604185", + "label": "Facial paresis, hereditary congenital, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:31:58.023134Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Facial_paresis_hereditary_congenital_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Facial_paresis_hereditary_congenital_3_patient_1.json new file mode 100644 index 000000000..d76a5ccb1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Facial_paresis_hereditary_congenital_3_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "facial_paresis,_hereditary_congenital,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000337", + "label": "Broad forehead" + } + }, + { + "type": { + "id": "HP:0000358", + "label": "Posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0002058", + "label": "Myopathic facies" + } + }, + { + "type": { + "id": "HP:0000565", + "label": "Esotropia" + } + }, + { + "type": { + "id": "HP:0005216", + "label": "Impaired mastication" + } + }, + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0007687", + "label": "Unilateral ptosis" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0008615", + "label": "Adult onset sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0000319", + "label": "Smooth philtrum" + } + }, + { + "type": { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Facial_spasm_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Facial_spasm_patient_1.json new file mode 100644 index 000000000..b32f83ba5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Facial_spasm_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "facial_spasm", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001265", + "label": "Hyporeflexia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:134300", + "label": "Facial spasm" + } + } + ], + "metaData": { + "created": "2024-06-11T17:52:13.018387Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance 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"https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Faciocardiomelic_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Faciocardiomelic_syndrome_patient_1.json new file mode 100644 index 000000000..d922e1d06 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Faciocardiomelic_syndrome_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "faciocardiomelic_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200000", + "label": "Dysharmonic skeletal maturation" + } + }, + { + "type": { + "id": "HP:0000577", + "label": "Exotropia" + } + }, + { + "type": { + "id": "HP:0004634", + "label": "Cuboid-shaped vertebral bodies" + } + }, + { + "type": { + "id": "HP:0000506", + "label": "Telecanthus" + } + }, + { + "type": { + "id": "HP:0001520", + "label": "Large for gestational age" + } + }, + { + "type": { + "id": "HP:0008839", + "label": "Hypoplastic pelvis" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0002753", + "label": "Thin bony cortex" + } + }, + { + "type": { + "id": "HP:0000154", + "label": "Wide mouth" + } + }, + { + "type": { + "id": "HP:0011565", + "label": "Common atrium" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + } + }, + { + "type": { + "id": "HP:0007911", + "label": "Congenital bilateral ptosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612731", + "label": "Faciocardiomelic syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:46:44.770636Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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"label": "High palate" + } + }, + { + "type": { + "id": "HP:0008551", + "label": "Microtia" + } + }, + { + "type": { + "id": "HP:0000211", + "label": "Trismus" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0200021", + "label": "Down-sloping shoulders" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0000689", + "label": "Dental malocclusion" + } + }, + { + "type": { + "id": "HP:0000915", + "label": "Pectus excavatum of inferior sternum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:227330", + "label": "Faciodigitogenital syndrome, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T23:22:46.134918Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"id": "HP:0003763", + "label": "Bruxism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606840", + "label": "Faciomandibular myoclonus, nocturnal" + } + } + ], + "metaData": { + "created": "2024-06-11T18:15:44.399363Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Facioscapulohumeral_muscular_dystrophy_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Facioscapulohumeral_muscular_dystrophy_1_patient_1.json new file mode 100644 index 000000000..b667e0a7b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Facioscapulohumeral_muscular_dystrophy_1_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "facioscapulohumeral_muscular_dystrophy_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003236", + "label": "Elevated circulating creatine kinase concentration" + } + }, + { + "type": { + "id": "HP:0030664", + "label": "Beevor's sign" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0008970", + "label": "Scapulohumeral muscular dystrophy" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0002091", + "label": "Restrictive ventilatory defect" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Facioscapulohumeral_muscular_dystrophy_2_patient_1.json new file mode 100644 index 000000000..783162007 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Facioscapulohumeral_muscular_dystrophy_2_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "facioscapulohumeral_muscular_dystrophy_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009027", + "label": "Foot dorsiflexor weakness" + } + }, + { + "type": { + "id": "HP:0003560", + "label": "Muscular dystrophy" + } + }, + { + "type": { + "id": "HP:0003691", + "label": "Scapular winging" + } + }, + { + "type": { + "id": "HP:0009023", + "label": "Abdominal wall muscle weakness" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:158901", + "label": "Facioscapulohumeral muscular dystrophy 2" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Facioscapulohumeral_muscular_dystrophy_3_digenic_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "facioscapulohumeral_muscular_dystrophy_3,_digenic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003691", + "label": "Scapular winging" + } + }, + { + "type": { + "id": "HP:0011952", + "label": "Acute aspiration pneumonia" + } + }, + { + "type": { + "id": "HP:0012507", + "label": "Weakness of orbicularis oculi muscle" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619477", + "label": "Facioscapulohumeral muscular dystrophy 3, digenic" + } + } + ], + "metaData": { + "created": "2024-06-11T22:14:06.515040Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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"id": "HP:0030319", + "label": "Weakness of facial musculature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619478", + "label": "Facioscapulohumeral muscular dystrophy 4, digenic" + } + } + ], + "metaData": { + "created": "2024-06-11T19:44:23.043470Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_IX_and_factor_XI_combined_deficiency_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_IX_and_factor_XI_combined_deficiency_of_patient_1.json new file mode 100644 index 000000000..bec7db5c0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_IX_and_factor_XI_combined_deficiency_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "factor_ix_and_factor_xi,_combined_deficiency_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011858", + "label": "Reduced factor IX activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:134540", + "label": "Factor IX and factor XI, combined deficiency of" + } + } + ], + "metaData": { + "created": "2024-06-11T22:35:12.019659Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_VIII_and_factor_IX_combined_deficiency_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_VIII_and_factor_IX_combined_deficiency_of_patient_1.json new file mode 100644 index 000000000..aa5a01c09 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_VIII_and_factor_IX_combined_deficiency_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "factor_viii_and_factor_ix,_combined_deficiency_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003125", + "label": "Reduced factor VIII activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:134510", + "label": "Factor VIII and factor IX, combined deficiency of" + } + } + ], + "metaData": { + "created": "2024-06-11T18:25:46.766565Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_VIII_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_VIII_deficiency_patient_1.json new file mode 100644 index 000000000..d837aa13f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_VIII_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "factor_viii_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003125", + "label": "Reduced factor VIII activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:134500", + "label": "Factor VIII deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T18:37:33.764209Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_VII_and_factor_VIII_combined_deficiency_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_VII_and_factor_VIII_combined_deficiency_of_patient_1.json new file mode 100644 index 000000000..9fcc1f7b8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_VII_and_factor_VIII_combined_deficiency_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "factor_vii_and_factor_viii,_combined_deficiency_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003125", + "label": "Reduced factor VIII activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:134430", + "label": "Factor VII and factor VIII, combined deficiency of" + } + } + ], + "metaData": { + "created": "2024-06-11T21:10:49.057220Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_VII_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_VII_deficiency_patient_1.json new file mode 100644 index 000000000..ab6fac368 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_VII_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "factor_vii_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008169", + "label": "Reduced factor VII activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:227500", + "label": "Factor VII deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T18:04:39.755329Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_V_and_factor_VIII_combined_deficiency_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_V_and_factor_VIII_combined_deficiency_of_patient_1.json new file mode 100644 index 000000000..1c6f2f1d7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_V_and_factor_VIII_combined_deficiency_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "factor_v_and_factor_viii,_combined_deficiency_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003225", + "label": "Reduced coagulation factor V activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:227300", + "label": "Factor V and factor VIII, combined deficiency of" + } + } + ], + "metaData": { + "created": "2024-06-11T18:50:17.945676Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_V_and_factor_VIII_combined_deficiency_of_patient_2.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_V_and_factor_VIII_combined_deficiency_of_patient_2.json new file mode 100644 index 000000000..fed7ea4a4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_V_and_factor_VIII_combined_deficiency_of_patient_2.json @@ -0,0 +1,57 @@ +{ + "id": "factor_v_and_factor_viii,_combined_deficiency_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031899", + "label": "Abnormal coagulation factor V activity" + } + }, + { + "type": { + "id": "HP:0030976", + "label": "Abnormal factor VIII activity" + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613625", + "label": "Factor V and factor VIII, combined deficiency of" + } + } + ], + "metaData": { + "created": "2024-06-11T19:47:06.365415Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_V_and_factor_VIII_combined_deficiency_of_with_normal_proteinc_and_protein_C_inhibitor_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_V_and_factor_VIII_combined_deficiency_of_with_normal_proteinc_and_protein_C_inhibitor_patient_1.json new file mode 100644 index 000000000..a1ef712bf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_V_and_factor_VIII_combined_deficiency_of_with_normal_proteinc_and_protein_C_inhibitor_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "factor_v_and_factor_viii,_combined_deficiency_of,_with_normal_proteinc_and_protein_c_inhibitor", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003225", + "label": "Reduced coagulation factor V activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:227310", + "label": "Factor V and factor VIII, combined deficiency of, with normal proteinc and protein C inhibitor" + } + } + ], + "metaData": { + "created": "2024-06-11T18:14:34.358063Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_V_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_V_deficiency_patient_1.json new file mode 100644 index 000000000..017041041 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_V_deficiency_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "factor_v_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000421", + "label": "Epistaxis" + } + }, + { + "type": { + "id": "HP:0031899", + "label": "Abnormal coagulation factor V activity" + } + }, + { + "type": { + "id": "HP:0003010", + "label": "Prolonged bleeding time" + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:227400", + "label": "Factor V deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T20:06:26.447680Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_V_excess_with_spontaneous_thrombosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_V_excess_with_spontaneous_thrombosis_patient_1.json new file mode 100644 index 000000000..227c39a90 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_V_excess_with_spontaneous_thrombosis_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "factor_v_excess_with_spontaneous_thrombosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004950", + "label": "Peripheral arterial stenosis" + } + }, + { + "type": { + "id": "HP:0011996", + "label": "Elevated coagulation factor V activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:134400", + "label": "Factor V excess with spontaneous thrombosis" + } + } + ], + "metaData": { + "created": "2024-06-11T20:48:15.549062Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_XIIIB_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_XIIIB_deficiency_patient_1.json new file mode 100644 index 000000000..7b819db35 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_XIIIB_deficiency_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "factor_xiiib_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040234", + "label": "Factor XIII subunit B deficiency" + } + }, + { + "type": { + "id": "HP:0004846", + "label": "Prolonged bleeding after surgery" + } + }, + { + "type": { + "id": "HP:0008357", + "label": "Reduced factor XIII activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613235", + "label": "Factor XIIIB deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T19:54:06.558748Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_XIII_A_subunit_deficiency_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_XIII_A_subunit_deficiency_of_patient_1.json new file mode 100644 index 000000000..8b003f40c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_XIII_A_subunit_deficiency_of_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "factor_xiii,_a_subunit,_deficiency_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000225", + "label": "Gingival bleeding" + } + }, + { + "type": { + "id": "HP:0000421", + "label": "Epistaxis" + } + }, + { + "type": { + "id": "HP:0031364", + "label": "Ecchymosis" + } + }, + { + "type": { + "id": "HP:0040233", + "label": "Factor XIII subunit A deficiency" + } + }, + { + "type": { + "id": "HP:0000978", + "label": "Bruising susceptibility" + } + }, + { + "type": { + "id": "HP:0011884", + "label": "Abnormal umbilical stump bleeding" + } + }, + { + "type": { + "id": "HP:0011276", + "label": "Vascular skin abnormality" + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613225", + "label": "Factor XIII, A subunit, deficiency of" + } + } + ], + "metaData": { + "created": "2024-06-11T20:33:47.766737Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_XII_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_XII_deficiency_patient_1.json new file mode 100644 index 000000000..9cbc58a7c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_XII_deficiency_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "factor_xii_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003645", + "label": "Prolonged partial thromboplastin time" + } + }, + { + "type": { + "id": "HP:0005542", + "label": "Prolonged whole-blood clotting time" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:234000", + "label": "Factor XII deficiency" + } + } + ], + "metaData": { + "created": "2024-06-12T02:24:21.413301Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_XI_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_XI_deficiency_patient_1.json new file mode 100644 index 000000000..0e14b5bce --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_XI_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "factor_xi_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001929", + "label": "Reduced factor XI activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612416", + "label": "Factor XI deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T19:08:49.396811Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_X_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_X_deficiency_patient_1.json new file mode 100644 index 000000000..c2c82a5ec --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Factor_X_deficiency_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "factor_x_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008151", + "label": "Prolonged prothrombin time" + } + }, + { + "type": { + "id": "HP:0000132", + "label": "Menorrhagia" + } + }, + { + "type": { + "id": "HP:0008321", + "label": "Reduced factor X activity" + } + }, + { + "type": { + "id": "HP:0003645", + "label": "Prolonged partial thromboplastin time" + } + }, + { + "type": { + "id": "HP:0011890", + "label": "Prolonged bleeding following procedure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:227600", + "label": "Factor X deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T19:33:39.360082Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fallot_complex_with_severe_mental_and_growth_retardation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fallot_complex_with_severe_mental_and_growth_retardation_patient_1.json new file mode 100644 index 000000000..17a03f402 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fallot_complex_with_severe_mental_and_growth_retardation_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "fallot_complex_with_severe_mental_and_growth_retardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012516", + "label": "Tetralogy of Fallot with pulmonary atresia" + } + }, + { + "type": { + "id": "HP:0034349", + "label": "Supravalvar pulmonary stenosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601127", + "label": "Fallot complex with severe mental and growth retardation" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:45.554471Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Familial_adenomatous_polyposis_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "familial_adenomatous_polyposis_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:6000102", + "label": "Breast intraductal papilloma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617100", + "label": "Familial adenomatous polyposis 4" + } + } + ], + "metaData": { + "created": "2024-06-11T22:20:27.348363Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Familial_apolipoprotein_gene_cluster_deletion_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Familial_apolipoprotein_gene_cluster_deletion_syndrome_patient_1.json new file mode 100644 index 000000000..7b381d905 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Familial_apolipoprotein_gene_cluster_deletion_syndrome_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "familial_apolipoprotein_gene_cluster_deletion_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012153", + "label": "Hypotriglyceridemia" + } + }, + { + "type": { + "id": "HP:0031799", + "label": "Decreased circulating apolipoprotein A-I concentration" + } + }, + { + "type": { + "id": "HP:0001084", + "label": "Corneal arcus" + } + }, + { + "type": { + "id": "HP:0025015", + "label": 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"type": { + "id": "HP:0000989", + "label": "Pruritus" + }, + "modifiers": [ + { + "id": "HP:0025206", + "label": "Triggered by cold" + } + ] + }, + { + "type": { + "id": "HP:0012393", + "label": "Allergy" + } + }, + { + "type": { + "id": "HP:0031972", + "label": "Presyncope" + }, + "modifiers": [ + { + "id": "HP:0025206", + "label": "Triggered by cold" + } + ] + }, + { + "type": { + "id": "HP:0000872", + "label": "Hashimoto thyroiditis" + } + }, + { + "type": { + "id": "HP:0410135", + "label": "Cold urticaria" + }, + "modifiers": [ + { + "id": "HP:0025206", + "label": "Triggered by cold" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614468", + "label": "Familial cold autoinflammatory syndrome 3" + } + } + ], + "metaData": { + "created": "2024-06-11T23:52:18.121356Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Familial_cold_autoinflammatory_syndrome_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Familial_cold_autoinflammatory_syndrome_4_patient_1.json new file mode 100644 index 000000000..7d5cef342 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Familial_cold_autoinflammatory_syndrome_4_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "familial_cold_autoinflammatory_syndrome_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002829", + "label": "Arthralgia" + }, + "modifiers": [ + { + "id": "HP:0025206", + "label": "Triggered by cold" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616115", + "label": "Familial cold autoinflammatory syndrome 4" + } + } + ], + "metaData": { + "created": "2024-06-11T18:42:21.506049Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Familial_cold_inflammatory_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Familial_cold_inflammatory_syndrome_1_patient_1.json new file mode 100644 index 000000000..768e99ae7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Familial_cold_inflammatory_syndrome_1_patient_1.json @@ -0,0 +1,128 @@ +{ + "id": "familial_cold_inflammatory_syndrome_1", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P64Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001369", + "label": "Arthritis" + }, + "modifiers": [ + { + "id": "HP:0025206", + "label": "Triggered by cold" + } + ] + }, + { + "type": { + "id": "HP:0025143", + "label": "Chills" + }, + "modifiers": [ + { + "id": "HP:0025206", + "label": "Triggered by cold" + } + ] + }, + { + "type": { + "id": "HP:0002829", + "label": "Arthralgia" + }, + "modifiers": [ + { + "id": "HP:0025206;HP:0025206", + "label": "Triggered by cold" + } + ] + }, + { + "type": { + "id": "HP:0001954", + "label": "Recurrent fever" + }, + "modifiers": [ + { + "id": "HP:0025206", + "label": "Triggered by cold" + } + ] + }, + { + "type": { + "id": "HP:0000554", + "label": "Uveitis" + }, + "modifiers": [ + { + "id": "HP:0025206", + "label": "Triggered by cold" + } + ] + }, + { + "type": { + "id": "HP:0000509", + "label": "Conjunctivitis" + }, + "modifiers": [ + { + "id": "HP:0025206;HP:0025206", + "label": "Triggered by cold" + } + ] + }, + { + "type": { + "id": "HP:0001945", + "label": "Fever" + }, + "modifiers": [ + { + "id": "HP:0025206", + "label": "Triggered by cold" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:120100", + "label": "Familial cold inflammatory syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:34:13.486702Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Familial_dysalbuminemic_hyperthyroxinemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Familial_dysalbuminemic_hyperthyroxinemia_patient_1.json new file mode 100644 index 000000000..be6060409 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Familial_dysalbuminemic_hyperthyroxinemia_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "familial_dysalbuminemic_hyperthyroxinemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008247", + "label": "Euthyroid hyperthyroxinemia" + } + }, + { + "type": { + "id": "HP:0003117", + "label": "Abnormal circulating hormone concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615999", + "label": "Familial dysalbuminemic hyperthyroxinemia" + } + } + ], + "metaData": { + "created": "2024-06-11T19:00:03.165221Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Familial_expansile_osteolysis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Familial_expansile_osteolysis_patient_1.json new file mode 100644 index 000000000..4855ee54e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Familial_expansile_osteolysis_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "familial_expansile_osteolysis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000405", + "label": "Conductive hearing impairment" + } + }, + { + "type": { + "id": "HP:0006487", + "label": "Bowing of the long bones" + } + }, + { + "type": { + "id": "HP:0002653", + "label": "Bone pain" + } + }, + { + "type": { + "id": "HP:0002756", + "label": "Pathologic fracture" + } + }, + { + "type": { + "id": "HP:0025124", + "label": "Fragile teeth" + } + }, + { + "type": { + "id": "HP:0003155", + "label": "Elevated circulating alkaline phosphatase concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:174810", + "label": "Familial expansile osteolysis" + } + } + ], + "metaData": { + "created": "2024-06-11T20:58:37.658719Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Familial_idiopathic_steroid_resistant_nephrotic_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Familial_idiopathic_steroid_resistant_nephrotic_syndrome_patient_1.json new file mode 100644 index 000000000..5938aeb7a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Familial_idiopathic_steroid_resistant_nephrotic_syndrome_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "familial_idiopathic_steroid-resistant_nephrotic_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012579", + "label": "Minimal change glomerulonephritis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615861", + "label": "Familial idiopathic steroid-resistant nephrotic syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:38:06.020262Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Familial_scaphocephaly_syndrome_Mcgillivray_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Familial_scaphocephaly_syndrome_Mcgillivray_type_patient_1.json new file mode 100644 index 000000000..3da87789a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Familial_scaphocephaly_syndrome_Mcgillivray_type_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "familial_scaphocephaly_syndrome,_mcgillivray_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000268", + "label": "Dolichocephaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609579", + "label": "Familial scaphocephaly syndrome, Mcgillivray type" + } + } + ], + "metaData": { + "created": "2024-06-11T18:39:19.850939Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_Bickel_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_Bickel_syndrome_patient_1.json new file mode 100644 index 000000000..a5329ac52 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_Bickel_syndrome_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "fanconi-bickel_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001941", + "label": "Acidosis" + } + }, + { + "type": { + "id": "HP:0001531", + "label": "Failure to thrive in infancy" + } + }, + { + "type": { + "id": "HP:0003109", + "label": "Hyperphosphaturia" + } + }, + { + "type": { + "id": "HP:0033354", + "label": "Abnormal urine metabolite level" + } + }, + { + "type": { + "id": "HP:0033354", + "label": "Abnormal urine metabolite level" + } + }, + { + "type": { + "id": "HP:0100529", + "label": "Abnormal blood phosphate concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:227810", + "label": "Fanconi-Bickel syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:29.351189Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_Like_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_Like_syndrome_patient_1.json new file mode 100644 index 000000000..9570c4c6e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_Like_syndrome_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "fanconi-like_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005010", + "label": "Osteomyelitis leading to amputation due to slow healing fractures" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0002664", + "label": "Neoplasm" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:227850", + "label": "Fanconi-Like syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T17:54:47.072671Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_anemia_complementation_group_B_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_anemia_complementation_group_B_patient_1.json new file mode 100644 index 000000000..a10ab3790 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_anemia_complementation_group_B_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "fanconi_anemia,_complementation_group_b", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003220", + "label": "Abnormality of chromosome stability" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0009777", + "label": "Absent thumb" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + }, + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + } + }, + { + "type": { + "id": "HP:0004977", + "label": "Bilateral radial aplasia" + } + }, + { + "type": { + "id": "HP:0001680", + "label": "Coarctation of aorta" + } + }, + { + "type": { + "id": "HP:0008373", + "label": "Puberty and gonadal disorders" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300514", + "label": "Fanconi anemia, complementation group B" + } + } + ], + "metaData": { + "created": "2024-06-11T22:02:15.557752Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_anemia_complementation_group_C_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_anemia_complementation_group_C_patient_1.json new file mode 100644 index 000000000..543ba325c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_anemia_complementation_group_C_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "fanconi_anemia,_complementation_group_c", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000957", + "label": "Cafe-au-lait spot" + } + }, + { + "type": { + "id": "HP:0000104", + "label": "Renal agenesis" + } + }, + { + "type": { + "id": "HP:0000286", + "label": "Epicanthus" + } + }, + { + "type": { + "id": "HP:0008373", + "label": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_anemia_complementation_group_L_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_anemia_complementation_group_L_patient_1.json new file mode 100644 index 000000000..e2878339a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_anemia_complementation_group_L_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "fanconi_anemia,_complementation_group_l", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000465", + "label": "Webbed neck" + } + }, + { + "type": { + "id": "HP:0000054", + "label": "Micropenis" + } + }, + { + "type": { + "id": "HP:0009777", + "label": "Absent thumb" + } + }, + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + 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No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_anemia_complementation_group_O_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_anemia_complementation_group_O_patient_1.json new file mode 100644 index 000000000..0f7573e0a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_anemia_complementation_group_O_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "fanconi_anemia,_complementation_group_o", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040012", + "label": "Chromosome breakage" + } + }, + { + "type": { + "id": "HP:0025023", + "label": "Rectal atresia" + } + }, + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000126", + "label": "Hydronephrosis" + } + }, + { + "type": { + "id": "HP:0000032", + "label": "Abnormal male external genitalia morphology" + } + }, + { + "type": { + "id": "HP:0002023", + "label": "Anal atresia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613390", + "label": "Fanconi anemia, complementation group O" + } + } + ], + "metaData": { + "created": "2024-06-11T20:44:30.440623Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_anemia_complementation_group_P_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_anemia_complementation_group_P_patient_1.json new file mode 100644 index 000000000..be5e8e275 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_anemia_complementation_group_P_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "fanconi_anemia,_complementation_group_p", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001876", + "label": "Pancytopenia" + } + }, + { + "type": { + "id": "HP:0005510", + "label": "Transient erythroblastopenia" + } + }, + { + "type": { + "id": "HP:0040012", + "label": "Chromosome breakage" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613951", + "label": "Fanconi anemia, complementation group P" + } + } + ], + "metaData": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_anemia_complementation_group_Q_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "fanconi_anemia,_complementation_group_q", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005528", + "label": "Bone marrow hypocellularity" + } + }, + { + "type": { + "id": "HP:0040012", + "label": "Chromosome breakage" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615272", + "label": "Fanconi anemia, complementation group Q" + } + } + ], + "metaData": { + "created": "2024-06-11T22:39:54.012549Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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100644 index 000000000..5e289ac7c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_anemia_complementation_group_T_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "fanconi_anemia,_complementation_group_t", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004808", + "label": "Acute myeloid leukemia" + } + }, + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0009778", + "label": "Short thumb" + } + }, + { + "type": { + "id": "HP:0009942", + "label": "Duplication of thumb phalanx" + } + }, + { + "type": { + "id": "HP:0003221", + "label": "Chromosomal breakage induced by crosslinking agents" + } + }, + { + "type": { + "id": "HP:0011875", + "label": "Abnormal platelet morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616435", + "label": "Fanconi anemia, complementation group T" + } + } + ], + "metaData": { + "created": "2024-06-11T21:08:31.165987Z", + 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"https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_anemia_complementation_group_W_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_anemia_complementation_group_W_patient_1.json new file mode 100644 index 000000000..efa24f51a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_anemia_complementation_group_W_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "fanconi_anemia,_complementation_group_w", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009777", + "label": "Absent thumb" + } + }, + { + "type": { + "id": "HP:0000824", + "label": "Decreased response to growth hormone stimulation test" + } + }, + { + "type": { + "id": "HP:0001748", + "label": "Polysplenia" + } + }, + { + "type": { + "id": "HP:0002247", + "label": "Duodenal atresia" + } + }, + { + "type": { + "id": "HP:0000309", + "label": "Abnormal midface morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617784", + "label": "Fanconi anemia, complementation group W" + } + } + ], + "metaData": { + "created": "2024-06-11T18:40:12.705143Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_anemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_anemia_patient_1.json new file mode 100644 index 000000000..6e9c1f8b2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_anemia_patient_1.json @@ -0,0 +1,171 @@ +{ + "id": "fanconi_anemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003214", + "label": "Prolonged G2 phase of cell cycle" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0000104", + "label": "Renal agenesis" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0001875", + "label": "Neutropenia" + } + }, + { + "type": { + "id": "HP:0000086", + "label": "Ectopic kidney" + } + }, + { + "type": { + "id": "HP:0001017", + "label": "Anemic pallor" + } + }, + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0009777", + "label": "Absent thumb" + } + }, + { + "type": { + "id": "HP:0011480", + "label": "Unilateral microphthalmos" + } + }, + { + "type": { + "id": "HP:0009608", + "label": "Complete duplication of proximal phalanx of the thumb" + } + }, + { + "type": { + "id": "HP:0005602", + "label": "Progressive vitiligo" + } + }, + { + "type": { + "id": "HP:0003221", + "label": "Chromosomal breakage induced by crosslinking agents" + } + }, + { + "type": { + "id": "HP:0001034", + "label": "Hypermelanotic macule" + } + }, + { + "type": { + "id": "HP:0009638", + "label": "Short proximal phalanx of thumb" + } + }, + { + "type": { + "id": "HP:0025313", + "label": "Exophoria" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0001915", + "label": "Aplastic anemia" + } + }, + { + "type": { + "id": "HP:6000145", + "label": "Boot-shaped cardiac silhouette" + } + }, + { + "type": { + "id": "HP:0011873", + "label": "Abnormal platelet count" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:227650", + "label": "Fanconi anemia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:39:29.998805Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_renotubular_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_renotubular_syndrome_1_patient_1.json new file mode 100644 index 000000000..20e03a282 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_renotubular_syndrome_1_patient_1.json @@ -0,0 +1,116 @@ +{ + "id": "fanconi_renotubular_syndrome_1", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P36Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003355", + "label": "Aminoaciduria" + } + }, + { + "type": { + "id": "HP:0001942", + "label": "Metabolic acidosis" + } + }, + { + "type": { + "id": "HP:0003126", + "label": "Low-molecular-weight proteinuria" + } + }, + { + "type": { + "id": "HP:0000124", + "label": "Renal tubular dysfunction" + } + }, + { + "type": { + "id": "HP:0034359", + "label": "Impaired renal tubular reabsorption of phosphate" + } + }, + { + "type": { + "id": "HP:0003155", + "label": "Elevated circulating alkaline phosphatase concentration" + } + }, + { + "type": { + "id": "HP:0003076", + "label": "Glycosuria" + } + }, + { + "type": { + "id": "HP:0002148", + "label": "Hypophosphatemia" + } + }, + { + "type": { + "id": "HP:0003109", + "label": "Hyperphosphaturia" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0001324", + "label": "Muscle weakness" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:134600", + "label": "Fanconi renotubular syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:28:30.706330Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": 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}, + { + "type": { + "id": "HP:0000117", + "label": "Renal phosphate wasting" + } + }, + { + "type": { + "id": "HP:0000083", + "label": "Renal insufficiency" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + }, + { + "type": { + "id": "HP:0002150", + "label": "Hypercalciuria" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0000938", + "label": "Osteopenia" + } + }, + { + "type": { + "id": "HP:0031415", + "label": "High serum calcitriol" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613388", + "label": "Fanconi renotubular syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:06:14.276184Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", 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"type": { + "id": "HP:0010502", + "label": "Fibular bowing" + } + }, + { + "type": { + "id": "HP:0033354", + "label": "Abnormal urine metabolite level" + } + }, + { + "type": { + "id": "HP:0003109", + "label": "Hyperphosphaturia" + } + }, + { + "type": { + "id": "HP:0004349", + "label": "Reduced bone mineral density" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615605", + "label": "Fanconi renotubular syndrome 3" + } + } + ], + "metaData": { + "created": "2024-06-11T22:48:48.259667Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_renotubular_syndrome_4_with_maturity_onset_diabetes_of_the_young_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_renotubular_syndrome_4_with_maturity_onset_diabetes_of_the_young_patient_1.json new file mode 100644 index 000000000..b3739cd57 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_renotubular_syndrome_4_with_maturity_onset_diabetes_of_the_young_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "fanconi_renotubular_syndrome_4_with_maturity-onset_diabetes_of_the_young", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003076", + "label": "Glycosuria" + } + }, + { + "type": { + "id": "HP:0003126", + "label": "Low-molecular-weight proteinuria" + } + }, + { + "type": { + "id": "HP:0003537", + "label": "Hypouricemia" + } + }, + { + "type": { + "id": "HP:0010679", + "label": "Elevated tissue non-specific alkaline phosphatase" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616026", + "label": "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young" + } + } + ], + "metaData": { + "created": "2024-06-11T21:27:20.163431Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_renotubular_syndrome_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_renotubular_syndrome_5_patient_1.json new file mode 100644 index 000000000..3bcc767ce --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fanconi_renotubular_syndrome_5_patient_1.json @@ -0,0 +1,98 @@ +{ + "id": "fanconi_renotubular_syndrome_5", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P26Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002148", + "label": "Hypophosphatemia" + } + }, + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + } + }, + { + "type": { + "id": "HP:0005576", + "label": "Tubulointerstitial fibrosis" + } + }, + { + "type": { + "id": "HP:0004912", + "label": "Hypophosphatemic rickets" + } + }, + { + "type": { + "id": "HP:0002857", + "label": "Genu valgum" + } + }, + { + "type": { + "id": "HP:0004918", + "label": "Hyperchloremic metabolic acidosis" + } + }, + { + "type": { + "id": "HP:0000093", + "label": "Proteinuria" + } + }, + { + "type": { + "id": "HP:0002097", + "label": "Emphysema" + } + }, + { + "type": { + "id": "HP:0045051", + "label": "Decreased DLCO" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618913", + "label": "Fanconi renotubular syndrome 5" + } + } + ], + "metaData": { + "created": "2024-06-12T00:13:49.394958Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Farber_lipogranulomatosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Farber_lipogranulomatosis_patient_1.json new file mode 100644 index 000000000..685cee4ec --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Farber_lipogranulomatosis_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "farber_lipogranulomatosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0001482", + "label": "Subcutaneous nodule" + } + }, + { + "type": { + "id": "HP:0001187", + "label": "Hyperextensibility of the finger joints" + } + }, + { + "type": { + "id": "HP:0006234", + "label": "Osteolysis involving tarsal bones" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0001609", + "label": "Hoarse voice" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:228000", + "label": "Farber lipogranulomatosis" + } + } + ], + "metaData": { + "created": "2024-06-11T22:59:59.987097Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fascial_dystrophy_congenital_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fascial_dystrophy_congenital_patient_1.json new file mode 100644 index 000000000..03a097631 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fascial_dystrophy_congenital_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "fascial_dystrophy,_congenital", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000951", + "label": "Abnormality of the skin" + } + }, + { + "type": { + "id": "HP:0001376", + "label": "Limitation of joint mobility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:228020", + "label": "Fascial dystrophy, congenital" + } + } + ], + "metaData": { + "created": "2024-06-11T17:50:32.970027Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fatal_familial_insomnia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fatal_familial_insomnia_patient_1.json new file mode 100644 index 000000000..1904b7a20 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fatal_familial_insomnia_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "fatal_familial_insomnia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001336", + "label": "Myoclonus" + } + }, + { + "type": { + "id": "HP:0002104", + "label": "Apnea" + } + }, + { + "type": { + "id": "HP:0002015", + "label": "Dysphagia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600072", + "label": "Fatal familial insomnia" + } + } + ], + "metaData": { + "created": "2024-06-11T20:25:45.560743Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fatty_liver_disease_nonalcoholic_susceptibility_to_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fatty_liver_disease_nonalcoholic_susceptibility_to_1_patient_1.json new file mode 100644 index 000000000..0660260eb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fatty_liver_disease_nonalcoholic_susceptibility_to_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "fatty_liver_disease,_nonalcoholic,_susceptibility_to,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001397", + "label": "Hepatic steatosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613282", + "label": "Fatty liver disease, nonalcoholic, susceptibility to, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T17:52:11.051171Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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+ } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613387", + "label": "Fatty liver disease, nonalcoholic, susceptibility to, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:20:39.539215Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Faundes_Banka_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Faundes_Banka_syndrome_patient_1.json new file mode 100644 index 000000000..750999680 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Faundes_Banka_syndrome_patient_1.json @@ -0,0 +1,231 @@ +{ + "id": "faundes-banka_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0001763", + "label": "Pes planus" + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + }, + { + "type": { + "id": "HP:0000414", + "label": "Bulbous nose" + } + }, + { + "type": { + "id": "HP:0010314", + "label": "Premature thelarche" + } + }, + { + "type": { + "id": "HP:0002020", + "label": "Gastroesophageal reflux" + } + }, + { + "type": { + "id": "HP:0005830", + "label": "Flexion contracture of toe" + } + }, + { + "type": { + "id": "HP:0004768", + "label": "Sparse anterior scalp hair" + } + }, + { + "type": { + "id": "HP:0410005", + "label": "Cleft hard palate" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0000490", + "label": "Deeply set eye" + } + }, + { + "type": { + "id": "HP:0000492", + "label": "Abnormal eyelid morphology" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0000032", + "label": "Abnormal male external genitalia morphology" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0001791", + "label": "Fetal ascites" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0011470", + "label": "Nasogastric tube feeding in infancy" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0012389", + "label": "Appendicular hypotonia" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + }, + { + "type": { + "id": "HP:0000364", + "label": "Hearing abnormality" + } + }, + { + "type": { + "id": "HP:0011937", + "label": "Hypoplastic fifth 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index 000000000..fb72a0037 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Febrile_convulsions_familial_9_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "febrile_convulsions,_familial,_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002121", + "label": "Generalized non-motor (absence) seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611634", + "label": "Febrile convulsions, familial, 9" + } + } + ], + "metaData": { + "created": "2024-06-11T19:57:44.958909Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": 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} +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Febrile_seizures_familial_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Febrile_seizures_familial_2_patient_1.json new file mode 100644 index 000000000..609492311 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Febrile_seizures_familial_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "febrile_seizures,_familial,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010818", + "label": "Generalized tonic seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602477", + "label": "Febrile seizures, familial, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:06:29.521598Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Febrile_seizures_familial_5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "febrile_seizures,_familial,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010819", + "label": "Atonic seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609255", + "label": "Febrile seizures, familial, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T20:33:37.880946Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Febrile_seizures_familial_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Febrile_seizures_familial_6_patient_1.json new file mode 100644 index 000000000..08ee8b284 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Febrile_seizures_familial_6_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "febrile_seizures,_familial,_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002373", + "label": "Febrile seizure (within the age range of 3 months to 6 years)" + } + }, + { + "type": { + "id": "HP:0020219", + "label": "Motor seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609253", + "label": "Febrile seizures, familial, 6" + } + } + ], + "metaData": { + "created": "2024-06-11T19:39:18.657711Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0002373", + "label": "Febrile seizure (within the age range of 3 months to 6 years)" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607681", + "label": "Febrile seizures, familial, 8" + } + } + ], + "metaData": { + "created": "2024-06-11T20:41:41.695409Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Feingold_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Feingold_syndrome_1_patient_1.json new file mode 100644 index 000000000..21a4cbbc9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Feingold_syndrome_1_patient_1.json @@ -0,0 +1,237 @@ +{ + "id": "feingold_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0045025", + "label": "Narrow palpebral fissure" + } + }, + { + "type": { + "id": "HP:0000437", + "label": "Depressed nasal tip" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0000325", + "label": "Triangular face" + } + }, + { + "type": { + "id": "HP:0001991", + "label": "Aplasia/Hypoplasia of toe" + } + }, + { + "type": { + "id": "HP:0000159", + "label": "Abnormal lip morphology" + } + }, + { + "type": { + "id": "HP:0025033", + "label": "Abnormal digestive system morphology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0025408", + "label": "Abnormal spleen morphology" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0001167", + "label": "Abnormal finger morphology" + } + }, + { + "type": { + "id": "HP:0000237", + "label": "Small anterior fontanelle" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0001734", + "label": "Annular pancreas" + } + }, + { + "type": { + "id": "HP:0002705", + "label": "High, narrow palate" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0200007", + "label": "Abnormal size of the palpebral fissures" + } + }, + { + "type": { + "id": "HP:0011100", + "label": "Intestinal atresia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0031801", + "label": "Vocal cord dysfunction" + } + }, + { + "type": { + "id": "HP:0002683", + "label": "Abnormal calvaria morphology" + } + }, + { + "type": { + "id": "HP:0002031", + "label": "Abnormal esophagus morphology" + } + }, + { + "type": { + "id": "HP:0025611", + "label": "Epicanthus superciliaris" + } + }, + { + "type": { + "id": "HP:6000503", + "label": "4-5 toe cutaneous syndactyly" + } + }, + { + "type": { + "id": "HP:0025408", + "label": "Abnormal spleen morphology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0009799", + "label": "Supernumerary spleens" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:164280", + "label": "Feingold syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:39:13.339170Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Feingold_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Feingold_syndrome_2_patient_1.json new file mode 100644 index 000000000..70e925c77 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Feingold_syndrome_2_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "feingold_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004691", + "label": "2-3 toe syndactyly" + } + }, + { + "type": { + "id": "HP:0009779", + "label": "3-4 toe syndactyly" + } + }, + { + "type": { + "id": "HP:0004220", + "label": "Short middle phalanx of the 5th finger" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614326", + "label": "Feingold syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:51:23.545203Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Felty_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Felty_syndrome_patient_1.json new file mode 100644 index 000000000..f76c162c8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Felty_syndrome_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "felty_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0410254", + "label": "Cyclic neutropenia in myeloid maturation arrest in bone marrow" + } + }, + { + "type": { + "id": "HP:0001438", + "label": "Abnormal abdomen morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:134750", + "label": "Felty syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:47:44.550385Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Femoral_facial_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Femoral_facial_syndrome_patient_1.json new file mode 100644 index 000000000..2db4cb592 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Femoral_facial_syndrome_patient_1.json @@ -0,0 +1,261 @@ +{ + "id": "femoral-facial_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003097", + "label": "Short femur" + } + }, + { + "type": { + "id": "HP:0000059", + "label": "Hypoplastic labia majora" + } + }, + { + "type": { + "id": "HP:0005792", + "label": "Short humerus" + } + }, + { + "type": { + "id": "HP:0000430", + "label": "Underdeveloped nasal alae" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0004742", + "label": "Abnormal renal collecting system morphology" + } + }, + { + "type": { + "id": "HP:0009800", + "label": "Maternal diabetes" + } + }, + { + "type": { + "id": "HP:0008465", + "label": "Absent vertebra" + } + }, + { + "type": { + "id": "HP:0001660", + "label": "Truncus arteriosus" + } + }, + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0001177", + "label": "Preaxial hand polydactyly" + } + }, + { + "type": { + "id": "HP:0002020", + "label": "Gastroesophageal reflux" + } + }, + { + "type": { + "id": "HP:0003041", + "label": "Humeroradial synostosis" + } + }, + { + "type": { + "id": "HP:0001376", + "label": "Limitation of joint mobility" + } + }, + { + "type": { + "id": "HP:0005107", + "label": "Abnormal sacrum morphology" + } + }, + { + "type": { + "id": "HP:0000113", + "label": "Polycystic kidney dysplasia" + } + }, + { + "type": { + "id": "HP:0009121", + "label": "Abnormal axial skeleton morphology" + } + }, + { + "type": { + "id": "HP:0005267", + "label": "Premature delivery because of cervical insufficiency or membrane fragility" + } + }, + { + "type": { + "id": "HP:0004689", + "label": "Short fourth metatarsal" + } + }, + { + "type": { + "id": "HP:0009121", + "label": "Abnormal axial skeleton morphology" + } + }, + { + "type": { + "id": "HP:0000032", + "label": "Abnormal male external genitalia morphology" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0030300", + "label": "10 pairs of ribs" + } + }, + { + "type": { + "id": "HP:0003561", + "label": "Birth length less than 3rd percentile" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0012744", + "label": "Femoral aplasia" + } + }, + { + "type": { + "id": "HP:0001780", + "label": "Abnormal toe morphology" + } + }, + { + "type": { + "id": "HP:0005873", + "label": "Polysyndactyly of hallux" + } + }, + { + "type": { + "id": "HP:0000319", + "label": "Smooth philtrum" + } + }, + { + "type": { + "id": "HP:0003170", + "label": "Abnormal acetabulum morphology" + } + }, + { + "type": { + "id": "HP:0004686", + "label": "Short third metatarsal" + } + }, + { + "type": { + "id": "HP:0000174", + "label": "Abnormal palate morphology" + } + }, + { + "type": { + "id": "HP:0000054", + "label": "Micropenis" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0001377", + "label": "Limited elbow extension" + } + }, + { + "type": { + "id": "HP:0006956", + "label": "Lateral ventricle dilatation" + } + }, + { + "type": { + "id": "HP:0010692", + "label": "2-5 finger syndactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:134780", + "label": "Femoral-facial syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:15:40.396540Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Femur_unilateral_bifid_with_monodactylous_ectrodactyly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Femur_unilateral_bifid_with_monodactylous_ectrodactyly_patient_1.json new file mode 100644 index 000000000..b56ae8bdc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Femur_unilateral_bifid_with_monodactylous_ectrodactyly_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "femur,_unilateral_bifid,_with_monodactylous_ectrodactyly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001171", + "label": "Split hand" + } + }, + { + "type": { + "id": "HP:0200054", + "label": "Foot monodactyly" + } + }, + { + "type": { + "id": "HP:0010443", + "label": "Bifid femur" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:228250", + "label": "Femur, unilateral bifid, with monodactylous ectrodactyly" + } + } + ], + "metaData": { + "created": "2024-06-11T20:49:04.538572Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ferguson_Bonni_neurodevelopmental_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ferguson_Bonni_neurodevelopmental_syndrome_patient_1.json new file mode 100644 index 000000000..6fa78fd85 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ferguson_Bonni_neurodevelopmental_syndrome_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "ferguson-bonni_neurodevelopmental_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619699", + "label": "Ferguson-Bonni neurodevelopmental syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:07:05.367364Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_akinesia_deformation_sequence_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_akinesia_deformation_sequence_2_patient_1.json new file mode 100644 index 000000000..093d591a7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_akinesia_deformation_sequence_2_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "fetal_akinesia_deformation_sequence_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002093", + "label": "Respiratory insufficiency" + } + }, + { + "type": { + "id": "HP:0000475", + "label": "Broad neck" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0001371", + "label": "Flexion contracture" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + }, + { + "type": { + "id": "HP:0001558", + "label": "Decreased fetal movement" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + }, + { + "type": { + "id": "HP:0008872", + "label": "Feeding difficulties in infancy" + } + }, + { + "type": { + "id": "HP:0010804", + "label": "Tented upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0000032", + "label": "Abnormal male external genitalia morphology" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0007628", + "label": "Mandibular condyle hypoplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618388", + "label": "Fetal akinesia deformation sequence 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:31:00.395365Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_akinesia_deformation_sequence_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_akinesia_deformation_sequence_3_patient_1.json new file mode 100644 index 000000000..ce403a5e5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_akinesia_deformation_sequence_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "fetal_akinesia_deformation_sequence_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001838", + "label": "Rocker bottom foot" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618389", + "label": "Fetal akinesia deformation sequence 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:38:15.053250Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_akinesia_deformation_sequence_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_akinesia_deformation_sequence_4_patient_1.json new file mode 100644 index 000000000..2e4a81547 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_akinesia_deformation_sequence_4_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "fetal_akinesia_deformation_sequence_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000278", + "label": "Retrognathia" + } + }, + { + "type": { + "id": "HP:0000475", + "label": "Broad neck" + } + }, + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" + } + }, + { + "type": { + "id": "HP:0000358", + "label": "Posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0000878", + "label": "11 pairs of ribs" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618393", + "label": "Fetal akinesia deformation sequence 4" + } + } + ], + "metaData": { + "created": "2024-06-11T21:59:02.767403Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_akinesia_deformation_sequence_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_akinesia_deformation_sequence_patient_1.json new file mode 100644 index 000000000..99f68283c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_akinesia_deformation_sequence_patient_1.json @@ -0,0 +1,183 @@ +{ + "id": "fetal_akinesia_deformation_sequence", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0001193", + "label": "Ulnar deviation of the hand or of fingers of the hand" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0010880", + "label": "Increased nuchal translucency" + } + }, + { + "type": { + "id": "HP:0001239", + "label": "Wrist flexion contracture" + } + }, + { + "type": { + "id": "HP:0000437", + "label": "Depressed nasal tip" + } + }, + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0002803", + "label": "Congenital contracture" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0002089", + "label": "Pulmonary hypoplasia" + } + }, + { + "type": { + "id": "HP:0006266", + "label": "Small placenta" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0034391", + "label": "Elbow contracture" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0002804", + "label": "Arthrogryposis multiplex congenita" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0000160", + "label": "Narrow mouth" + } + }, + { + "type": { + "id": "HP:0012443", + "label": "Abnormal brain morphology" + } + }, + { + "type": { + "id": "HP:0003121", + "label": "Limb joint contracture" + } + }, + { + "type": { + "id": "HP:0008365", + "label": "Abnormal talus morphology" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + }, + { + "type": { + "id": "HP:0001989", + "label": "Fetal akinesia sequence" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:208150", + "label": "Fetal akinesia deformation sequence" + } + } + ], + "metaData": { + "created": "2024-06-11T20:00:29.978301Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_akinesia_respiratory_insufficiency_microcephaly_polymicrogyria_and_dysmorphic_facies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_akinesia_respiratory_insufficiency_microcephaly_polymicrogyria_and_dysmorphic_facies_patient_1.json new file mode 100644 index 000000000..f92d47b25 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_akinesia_respiratory_insufficiency_microcephaly_polymicrogyria_and_dysmorphic_facies_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "fetal_akinesia,_respiratory_insufficiency,_microcephaly,_polymicrogyria,_and_dysmorphic_facies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007363", + "label": "Aplasia/Hypoplasia of the pyramidal tract" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0002126", + "label": "Polymicrogyria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619602", + "label": "Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies" + } + } + ], + "metaData": { + "created": "2024-06-11T23:51:22.962633Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_akinesia_syndrome_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_akinesia_syndrome_X_linked_patient_1.json new file mode 100644 index 000000000..2c86c3f7e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_akinesia_syndrome_X_linked_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "fetal_akinesia_syndrome,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200007", + "label": "Abnormal size of the palpebral fissures" + } + }, + { + "type": { + "id": "HP:0001338", + "label": "Partial agenesis of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0000506", + "label": "Telecanthus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300073", + "label": "Fetal akinesia syndrome, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T22:32:05.114736Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_encasement_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_encasement_syndrome_patient_1.json new file mode 100644 index 000000000..d230ae7c9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_encasement_syndrome_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "fetal_encasement_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009816", + "label": "Lower limb undergrowth" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + }, + { + "type": { + "id": "HP:0000963", + "label": "Thin skin" + } + }, + { + "type": { + "id": "HP:0001558", + "label": "Decreased fetal movement" + } + }, + { + "type": { + "id": "HP:0009824", + "label": "Upper limb undergrowth" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + }, + { + "type": { + "id": "HP:0001539", + "label": "Omphalocele" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613630", + "label": "Fetal encasement syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:11:33.246152Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_hemoglobin_quantitative_trait_locus_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_hemoglobin_quantitative_trait_locus_1_patient_1.json new file mode 100644 index 000000000..2774c4a5c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_hemoglobin_quantitative_trait_locus_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "fetal_hemoglobin_quantitative_trait_locus_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011904", + "label": "Persistence of hemoglobin F" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:141749", + "label": "Fetal hemoglobin quantitative trait locus 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:00:52.071872Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_iodine_deficiency_disorder_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_iodine_deficiency_disorder_patient_1.json new file mode 100644 index 000000000..af8029c21 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fetal_iodine_deficiency_disorder_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "fetal_iodine_deficiency_disorder", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001939", + "label": "Abnormality of metabolism/homeostasis" + } + }, + { + "type": { + "id": "HP:0000821", + "label": "Hypothyroidism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:228355", + "label": "Fetal iodine deficiency disorder" + } + } + ], + "metaData": { + "created": "2024-06-11T18:09:49.734143Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fg_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fg_syndrome_2_patient_1.json new file mode 100644 index 000000000..9d4ac3c19 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fg_syndrome_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "fg_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008111", + "label": "Broad distal hallux" + } + }, + { + "type": { + "id": "HP:0001595", + "label": "Abnormal hair morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300321", + "label": "Fg syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:43:23.492854Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fg_syndrome_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fg_syndrome_4_patient_1.json new file mode 100644 index 000000000..eb1f2ddfb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fg_syndrome_4_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "fg_syndrome_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008935", + "label": "Generalized neonatal hypotonia" + } + }, + { + "type": { + "id": "HP:0011344", + "label": "Severe global developmental delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300422", + "label": "Fg syndrome 4" + } + } + ], + "metaData": { + "created": "2024-06-11T18:53:58.658489Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fibrinolytic_defect_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fibrinolytic_defect_patient_1.json new file mode 100644 index 000000000..13063f397 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fibrinolytic_defect_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "fibrinolytic_defect", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000974", + "label": "Hyperextensible skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:134900", + "label": "Fibrinolytic defect" + } + } + ], + "metaData": { + "created": "2024-06-11T23:29:16.322900Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fibrochondrogenesis_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fibrochondrogenesis_1_patient_1.json new file mode 100644 index 000000000..d55518515 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fibrochondrogenesis_1_patient_1.json @@ -0,0 +1,219 @@ +{ + "id": "fibrochondrogenesis_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004209", + "label": "Clinodactyly of the 5th finger" + } + }, + { + "type": { + "id": "HP:0005257", + "label": "Thoracic hypoplasia" + } + }, + { + "type": { + "id": "HP:0000160", + "label": "Narrow mouth" + } + }, + { + "type": { + "id": "HP:0009473", + "label": "Joint contracture of the hand" + } + }, + { + "type": { + "id": "HP:0005476", + "label": "Widely patent sagittal suture" + } + }, + { + "type": { + "id": "HP:0000926", + "label": "Platyspondyly" + } + }, + { + "type": { + "id": "HP:0000947", + "label": "Dumbbell-shaped long bone" + } + }, + { + "type": { + "id": "HP:0000883", + "label": "Thin ribs" + } + }, + { + "type": { + "id": "HP:0012385", + "label": "Camptodactyly" + } + }, + { + "type": { + "id": "HP:0012368", + "label": "Flat face" + } + }, + { + "type": { + "id": "HP:0000922", + "label": "Posterior rib cupping" + } + }, + { + "type": { + "id": "HP:0000260", + "label": "Wide anterior fontanel" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0003026", + "label": "Short long bone" + } + }, + { + "type": { + "id": "HP:0004279", + "label": "Short palm" + } + }, + { + "type": { + "id": "HP:0003375", + "label": "Narrow 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newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fibrosis_neurodegeneration_and_cerebral_angiomatosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fibrosis_neurodegeneration_and_cerebral_angiomatosis_patient_1.json new file mode 100644 index 000000000..c929cfb40 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fibrosis_neurodegeneration_and_cerebral_angiomatosis_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "fibrosis,_neurodegeneration,_and_cerebral_angiomatosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012444", + "label": "Brain atrophy" + } + }, + { + "type": { + "id": "HP:0032101", + "label": "Unusual infection" + } + }, + { + "type": { + "id": "HP:0031951", + "label": "Nocturnal seizures" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0100828", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fibrosis_of_extraocular_muscles_congenital_1_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "fibrosis_of_extraocular_muscles,_congenital,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012242", + "label": "Superior rectus atrophy" + } + }, + { + "type": { + "id": "HP:0031723", + "label": "Secondary esotropia" + } + }, + { + "type": { + "id": "HP:0031705", + "label": "Compensatory head posture" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:135700", + "label": "Fibrosis of extraocular muscles, congenital, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:59:06.583171Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fibrosis_of_extraocular_muscles_congenital_3A_with_or_without_extraocularinvolvement_patient_1.json new file mode 100644 index 000000000..aa12de54f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fibrosis_of_extraocular_muscles_congenital_3A_with_or_without_extraocularinvolvement_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "fibrosis_of_extraocular_muscles,_congenital,_3a,_with_or_without_extraocularinvolvement", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001491", + "label": "Congenital fibrosis of extraocular muscles" + } + }, + { + "type": { + "id": "HP:0100490", + "label": "Camptodactyly of finger" + } + }, + { + "type": { + "id": "HP:0030303", + "label": "Hypoplastic anterior commissure" + } + }, + { + "type": { + "id": "HP:0001328", + "label": "Specific learning disability" + } + }, + { + "type": { + "id": "HP:0001274", + "label": "Agenesis of corpus 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fibrosis_of_extraocular_muscles_congenital_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fibrosis_of_extraocular_muscles_congenital_5_patient_1.json new file mode 100644 index 000000000..66fafeae9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fibrosis_of_extraocular_muscles_congenital_5_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "fibrosis_of_extraocular_muscles,_congenital,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616219", + "label": "Fibrosis of extraocular muscles, congenital, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T21:45:15.664126Z", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fibrosis_of_extraocular_muscles_congenital_with_synergistic_divergence_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "fibrosis_of_extraocular_muscles,_congenital,_with_synergistic_divergence", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000577", + "label": "Exotropia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609612", + "label": "Fibrosis of extraocular muscles, congenital, with synergistic divergence" + } + } + ], + "metaData": { + "created": "2024-06-11T23:31:22.335784Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Filaminopathy_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Filaminopathy_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..db4306456 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Filaminopathy_autosomal_dominant_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "filaminopathy,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100303", + "label": "Muscle fiber cytoplasmatic inclusion bodies" + } + }, + { + "type": { + "id": "HP:0003555", + "label": "Muscle fiber splitting" + } + }, + { + "type": { + "id": "HP:0002643", + "label": "Neonatal respiratory distress" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609524", + "label": "Filaminopathy, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T20:55:27.073056Z", + "createdBy": "phenotype2phenopacket", 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Finger_locking_recurrent_with_intrauterine_growth_retardation_andproportionate_short_stature_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "finger_locking,_recurrent,_with_intrauterine_growth_retardation_andproportionate_short_stature", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:135950", + "label": "Finger locking, recurrent, with intrauterine growth retardation andproportionate short stature" + } + } + ], + "metaData": { + "created": "2024-06-11T23:36:47.723951Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fingerprint_body_myopathy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fingerprint_body_myopathy_patient_1.json new file mode 100644 index 000000000..5cb5f79ac --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fingerprint_body_myopathy_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "fingerprint_body_myopathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003198", + "label": "Myopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:305550", + "label": "Fingerprint body myopathy" + } + } + ], + "metaData": { + "created": "2024-06-12T02:23:13.372113Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fingerprints_absence_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fingerprints_absence_of_patient_1.json new file mode 100644 index 000000000..aeba76fec --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fingerprints_absence_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "fingerprints,_absence_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001217", + "label": "Clubbing" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:136000", + "label": "Fingerprints, absence of" + } + } + ], + "metaData": { + "created": "2024-06-11T20:52:54.647394Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fish_Eye_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fish_Eye_disease_patient_1.json new file mode 100644 index 000000000..79cb23178 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fish_Eye_disease_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "fish-eye_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003233", + "label": "Decreased HDL cholesterol concentration" + } + }, + { + "type": { + "id": "HP:0007759", + "label": "Opacification of the corneal stroma" + } + }, + { + "type": { + "id": "HP:0003362", + "label": "Increased VLDL cholesterol concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:136120", + "label": "Fish-Eye disease" + } + } + ], + "metaData": { + "created": "2024-06-11T23:31:26.103394Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Flaujeac_factor_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Flaujeac_factor_deficiency_patient_1.json new file mode 100644 index 000000000..b2c7be215 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Flaujeac_factor_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "flaujeac_factor_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003645", + "label": "Prolonged partial thromboplastin time" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:228960", + "label": "Flaujeac factor deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T18:00:04.296958Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fleck_retina_familial_benign_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fleck_retina_familial_benign_patient_1.json new file mode 100644 index 000000000..8bc245d3c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fleck_retina_familial_benign_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "fleck_retina,_familial_benign", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012045", + "label": "Retinal flecks" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:228980", + "label": "Fleck retina, familial benign" + } + } + ], + "metaData": { + "created": "2024-06-11T23:12:44.147492Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fliedner_Zweier_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fliedner_Zweier_syndrome_patient_1.json new file mode 100644 index 000000000..459d6a6bf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fliedner_Zweier_syndrome_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "fliedner-zweier_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0020045", + "label": "Esodeviation" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0002761", + "label": "Generalized joint hypermobility" + } + }, + { + "type": { + "id": "HP:0031117", + "label": "Purely bicuspid aortic valve" + } + }, + { + "type": { + "id": "HP:0000915", + "label": "Pectus excavatum of inferior sternum" + } + }, + { + "type": { + "id": "HP:0032649", + "label": "Skewfoot" + } + }, + { + "type": { + "id": "HP:0000414", + "label": "Bulbous nose" + } + }, + { + "type": { + "id": "HP:0006889", + "label": "Intellectual disability, borderline" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620511", + "label": "Fliedner-Zweier syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:54:03.863528Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Floating_Harbor_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Floating_Harbor_syndrome_patient_1.json new file mode 100644 index 000000000..1361dbe46 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Floating_Harbor_syndrome_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "floating-harbor_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000448", + "label": "Prominent nose" + } + }, + { + "type": { + "id": "HP:0000154", + "label": "Wide mouth" + } + }, + { + "type": { + "id": "HP:0002162", + "label": "Low posterior hairline" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0011123", + "label": "Inflammatory abnormality of the skin" + } + }, + { + "type": { + "id": "HP:0011297", + "label": "Abnormal digit morphology" + } + }, + { + "type": { + "id": "HP:0000414", + "label": "Bulbous nose" + } + }, + { + "type": { + "id": "HP:0005487", + "label": "Prominent metopic ridge" + } + }, + { + "type": { + "id": "HP:0001595", + "label": "Abnormal hair morphology" + } + }, + { + "type": { + "id": "HP:0000670", + "label": "Carious teeth" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0100790", + "label": "Hernia" + } + }, + { + "type": { + "id": "HP:0005872", + "label": "Brachytelomesophalangy" + } + }, + { + "type": { + "id": "HP:0000430", + "label": "Underdeveloped nasal alae" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:136140", + "label": "Floating-Harbor syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:18:16.998638Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Flynn_Aird_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Flynn_Aird_syndrome_patient_1.json new file mode 100644 index 000000000..33d01e3d6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Flynn_Aird_syndrome_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "flynn-aird_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0000408", + "label": "Progressive sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + }, + { + "type": { + "id": "HP:0002381", + "label": "Aphasia" + } + }, + { + "type": { + "id": "HP:0005700", + "label": "Increased bone density with cystic changes" + } + }, + { + "type": { + "id": "HP:0011368", + "label": "Epidermal thickening" + } + }, + { + "type": { + "id": "HP:0001271", + "label": "Polyneuropathy" + } + }, + { + "type": { + "id": "HP:0004349", + "label": "Reduced bone mineral density" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:136300", + "label": "Flynn-Aird syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:01:38.943474Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Focal_cortical_dysplasia_of_taylor_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Focal_cortical_dysplasia_of_taylor_patient_1.json new file mode 100644 index 000000000..81085fad9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Focal_cortical_dysplasia_of_taylor_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "focal_cortical_dysplasia_of_taylor", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007206", + "label": "Hemimegalencephaly" + } + }, + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607341", + "label": "Focal cortical dysplasia of taylor" + } + } + ], + "metaData": { + "created": "2024-06-11T18:05:02.278199Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Focal_dermal_hypoplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Focal_dermal_hypoplasia_patient_1.json new file mode 100644 index 000000000..6ec6f7dc9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Focal_dermal_hypoplasia_patient_1.json @@ -0,0 +1,339 @@ +{ + "id": "focal_dermal_hypoplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002558", + "label": "Supernumerary nipple" + } + }, + { + "type": { + "id": "HP:0000126", + "label": "Hydronephrosis" + } + }, + { + "type": { + "id": "HP:0002475", + "label": "Myelomeningocele" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0001162", + "label": "Postaxial hand polydactyly" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0001010", + "label": "Hypopigmentation of the skin" + }, + "modifiers": [ + { + "id": "HP:0025293", + "label": "Distributed along Blaschko lines" + } + ] + }, + { + "type": { + "id": "HP:0003191", + "label": "Cleft ala nasi" + } + }, + { + "type": { + "id": "HP:0001545", + "label": "Anteriorly placed anus" + } + }, + { + "type": { + "id": "HP:0002557", + "label": "Hypoplastic nipples" + } + }, + { + "type": { + "id": "HP:0001839", + "label": "Split foot" + } + }, + { + "type": { + "id": "HP:0200054", + "label": "Foot monodactyly" + } + }, + { + "type": { + "id": "HP:0008386", + "label": "Aplasia/Hypoplasia of the nails" + } + }, + { + "type": { + "id": "HP:0012718", + "label": "Abnormal gastrointestinal tract morphology" + } + }, + { + "type": { + "id": "HP:0100257", + "label": "Ectrodactyly" + } + }, + { + "type": { + "id": "HP:0006097", + "label": "3-4 finger syndactyly" + } + }, + { + "type": { + "id": "HP:0011478", + "label": "True anophthalmia" + } + }, + { + "type": { + "id": "HP:0005831", + "label": "Type B brachydactyly" + } + }, + { + "type": { + "id": "HP:0008065", + "label": "Aplasia/Hypoplasia of the skin" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0010740", + "label": "Osteopathia striata" + } + }, + { + "type": { + "id": "HP:0004529", + "label": "Atrophic, patchy alopecia" + } + }, + { + "type": { + "id": "HP:0000889", + "label": "Abnormal clavicle morphology" + } + }, + { + "type": { + "id": "HP:0000055", + "label": "Abnormal female external genitalia morphology" + } + }, + { + "type": { + "id": "HP:0001075", + "label": "Atrophic scars" + } + }, + { + "type": { + "id": "HP:0000307", + "label": "Pointed chin" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0001537", + "label": "Umbilical hernia" + } + }, + { + "type": { + "id": "HP:0001338", + "label": "Partial agenesis of the 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file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Focal_segmental_glomerulosclerosis_4_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Focal_segmental_glomerulosclerosis_4_susceptibility_to_patient_1.json new file mode 100644 index 000000000..ce480952f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Focal_segmental_glomerulosclerosis_4_susceptibility_to_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "focal_segmental_glomerulosclerosis_4,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612551", + "label": "Focal segmental glomerulosclerosis 4, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:07.577187Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Focal_segmental_glomerulosclerosis_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Focal_segmental_glomerulosclerosis_7_patient_1.json new file mode 100644 index 000000000..3143736c7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Focal_segmental_glomerulosclerosis_7_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "focal_segmental_glomerulosclerosis_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000097", + "label": "Focal segmental glomerulosclerosis" + } + }, + { + "type": { + "id": "HP:0000100", + "label": "Nephrotic syndrome" + } + }, + { + "type": { + "id": "HP:0000093", + "label": "Proteinuria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616002", + "label": "Focal segmental glomerulosclerosis 7" + } + } + ], + "metaData": { + "created": "2024-06-11T20:14:07.233726Z", + "createdBy": 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"HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fourth_cranial_nerve_palsy_familial_congenital_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fourth_cranial_nerve_palsy_familial_congenital_patient_1.json new file mode 100644 index 000000000..3db97906a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fourth_cranial_nerve_palsy_familial_congenital_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "fourth_cranial_nerve_palsy,_familial_congenital", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000542", + "label": "Impaired ocular adduction" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:136480", + "label": "Fourth cranial nerve palsy, familial congenital" + } + } + ], + "metaData": { + "created": "2024-06-11T23:01:57.856372Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Foveal_hypoplasia_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Foveal_hypoplasia_2_patient_1.json new file mode 100644 index 000000000..bec366298 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Foveal_hypoplasia_2_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "foveal_hypoplasia_2", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007750", + "label": "Hypoplasia of the fovea" + } + }, + { + "type": { + "id": "HP:0000483", + "label": "Astigmatism" + } + }, + { + "type": { + "id": "HP:0008001", + "label": "Foveal hyperpigmentation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609218", + "label": "Foveal hypoplasia 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:00:52.479265Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Foveal_hypoplasia_and_presenile_cataract_syndromefoveal_hypoplasia_isolated_included_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Foveal_hypoplasia_and_presenile_cataract_syndromefoveal_hypoplasia_isolated_included_patient_1.json new file mode 100644 index 000000000..73a7ab619 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Foveal_hypoplasia_and_presenile_cataract_syndromefoveal_hypoplasia_isolated_included_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "foveal_hypoplasia_and_presenile_cataract_syndromefoveal_hypoplasia,_isolated,_included", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007819", + "label": "Presenile cataracts" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:136520", + "label": "Foveal hypoplasia and presenile cataract syndromefoveal hypoplasia, isolated, included" + } + } + ], + "metaData": { + "created": "2024-06-11T23:21:18.525144Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fragile_X_mental_retardation_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fragile_X_mental_retardation_syndrome_patient_1.json new file mode 100644 index 000000000..ccbf950e5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fragile_X_mental_retardation_syndrome_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "fragile_x_mental_retardation_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002457", + "label": "Abnormal head movements" + } + }, + { + "type": { + "id": "HP:0008640", + "label": "Congenital macroorchidism" + } + }, + { + "type": { + "id": "HP:0000817", + "label": "Reduced eye contact" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0000400", + "label": "Macrotia" + } + }, + { + "type": { + "id": "HP:0000276", + "label": "Long face" + } + }, + { + "type": { + "id": "HP:0002342", + "label": "Intellectual disability, moderate" + } + }, + { + "type": { + "id": "HP:0001763", + "label": "Pes planus" + } + }, + { + "type": { + "id": "HP:0000717", + "label": "Autism" + } + }, + { + "type": { + "id": "HP:0001634", + "label": "Mitral valve prolapse" + } + }, + { + "type": { + "id": "HP:0007165", + "label": "Periventricular heterotopia" + } + }, + { + "type": { + "id": "HP:5200241", + "label": "Recurrent maladaptive behavior" + } + }, + { + "type": { + "id": "HP:0002050", + "label": "Macroorchidism, postpubertal" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300624", + "label": "Fragile X mental retardation syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:12:50.458233Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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"type": { + "id": "HP:0001272", + "label": "Cerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0012392", + "label": "Jaw hyporeflexia" + } + }, + { + "type": { + "id": "HP:0007024", + "label": "Pseudobulbar paralysis" + } + }, + { + "type": { + "id": "HP:0001152", + "label": "Saccadic smooth pursuit" + } + }, + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0000298", + "label": "Mask-like facies" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300623", + "label": "Fragile X tremor/ataxia syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:59.372463Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fragile_site_16q22_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fragile_site_16q22_patient_1.json new file mode 100644 index 000000000..19498e4e6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fragile_site_16q22_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "fragile_site_16q22", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008222", + "label": "Female infertility" + } + }, + { + "type": { + "id": "HP:0002916", + "label": "Abnormality of chromosome segregation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:136580", + "label": "Fragile site 16q22" + } + } + ], + "metaData": { + "created": "2024-06-11T21:41:50.007984Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Frank_ter_Haar_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Frank_ter_Haar_syndrome_patient_1.json new file mode 100644 index 000000000..e537cd9d7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Frank_ter_Haar_syndrome_patient_1.json @@ -0,0 +1,249 @@ +{ + "id": "frank-ter_haar_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0000520", + "label": "Proptosis" + } + }, + { + "type": { + "id": "HP:0000689", + "label": "Dental malocclusion" + } + }, + { + "type": { + "id": "HP:0001776", + "label": "Bilateral talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0000557", + "label": "Buphthalmos" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0001385", + "label": "Hip dysplasia" + } + }, + { + "type": { + "id": "HP:0000455", + "label": "Broad nasal tip" + } + }, + { + "type": { + "id": "HP:0020206", + "label": "Simple ear" + } + }, + { + "type": { + "id": "HP:0000485", + "label": "Megalocornea" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fraser_Like_syndrome_patient_1.json new file mode 100644 index 000000000..ae40ebbb1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fraser_Like_syndrome_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "fraser-like_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001607", + "label": "Subglottic stenosis" + } + }, + { + "type": { + "id": "HP:0001167", + "label": "Abnormal finger morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:229230", + "label": "Fraser-Like syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:36:21.235860Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": 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"HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0002023", + "label": "Anal atresia" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617666", + "label": "Fraser syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:20:40.766236Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Fraser_syndrome_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fraser_syndrome_3_patient_1.json new file mode 100644 index 000000000..d9facf025 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Fraser_syndrome_3_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "fraser_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005343", + "label": "Hypoplasia of the bladder" + } + }, + { + "type": { + "id": "HP:0000445", + "label": "Wide nose" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0001991", + "label": "Aplasia/Hypoplasia of toe" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0001438", + "label": "Abnormal abdomen 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Friedreich_ataxia_1_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "friedreich_ataxia_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003209", + "label": "Decreased pyruvate carboxylase activity" + } + }, + { + "type": { + "id": "HP:0003390", + "label": "Sensory axonal neuropathy" + } + }, + { + "type": { + "id": "HP:0001722", + "label": "High-output congestive heart failure" + } + }, + { + "type": { + "id": "HP:0007286", + "label": "Horizontal jerk nystagmus" + } + }, + { + "type": { + "id": "HP:0002403", + "label": "Positive Romberg sign" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0007958", + "label": "Optic atrophy from cranial nerve compression" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0006844", + "label": "Absent patellar reflexes" + } + }, + { + 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end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Friedreich_ataxia_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Friedreich_ataxia_2_patient_1.json new file mode 100644 index 000000000..ff4f423e3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Friedreich_ataxia_2_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "friedreich_ataxia_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0003133", + "label": "Abnormality of the spinocerebellar tracts" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0031599", + "label": "P mitrale" + } + }, + { + "type": { + "id": "HP:0003232", + "label": "Mitochondrial malic enzyme reduced" + } + }, + { + "type": { + "id": "HP:0008453", + "label": "Congenital kyphoscoliosis" + } + }, + { + "type": { + "id": 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"namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Friedreich_ataxia_so_called_with_optic_atrophy_and_sensorineuraldeafness_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Friedreich_ataxia_so_called_with_optic_atrophy_and_sensorineuraldeafness_patient_1.json new file mode 100644 index 000000000..7ced13dbc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Friedreich_ataxia_so_called_with_optic_atrophy_and_sensorineuraldeafness_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "friedreich_ataxia,_so-called,_with_optic_atrophy_and_sensorineuraldeafness", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:136600", + "label": "Friedreich ataxia, so-called, 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Frontofacionasal_dysplasia_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "frontofacionasal_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004122", + "label": "Midline defect of the nose" + } + }, + { + "type": { + "id": "HP:0005466", + "label": "Hypoplasia of the frontal bone" + } + }, + { + "type": { + "id": "HP:0011803", + "label": "Bifid nose" + } + }, + { + "type": { + "id": "HP:0007708", + "label": "Absent inner eyelashes" + } + }, + { + "type": { + "id": "HP:0007541", + "label": "Frontal cutaneous lipoma" + } + }, + { + "type": { + "id": "HP:0000612", + "label": "Iris coloboma" + } + }, + { + "type": { + "id": "HP:0007835", + "label": "S-shaped palpebral fissures" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/GAPO_syndrome_patient_1.json new file mode 100644 index 000000000..92a455671 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/GAPO_syndrome_patient_1.json @@ -0,0 +1,177 @@ +{ + "id": "gapo_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005576", + "label": "Tubulointerstitial fibrosis" + } + }, + { + "type": { + "id": "HP:0008070", + "label": "Sparse hair" + } + }, + { + "type": { + "id": "HP:0000653", + "label": "Sparse eyelashes" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0000337", + "label": "Broad forehead" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0000485", + "label": "Megalocornea" + } + }, + { + "type": { + "id": "HP:0000706", + "label": "Eruption failure" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0000594", + "label": "Shallow anterior chamber" + } + }, + { + "type": { + "id": "HP:0003196", + "label": "Short nose" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0031093", + "label": "Abnormal breast morphology" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0002557", + "label": "Hypoplastic nipples" + } + }, + { + "type": { + "id": "HP:0004474", + "label": "Persistent open anterior fontanelle" + } + }, + { + "type": { + "id": "HP:0001591", + "label": "Bell-shaped thorax" + } + }, + { + "type": { + "id": "HP:0002353", + "label": "EEG abnormality" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0031770", + "label": "Epicanthus palpebralis" + } + }, + { + "type": { + "id": "HP:0100790", + "label": "Hernia" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:230740", + "label": "GAPO syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:59:07.714076Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/GENOCHONDROMATOSIS_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/GENOCHONDROMATOSIS_patient_1.json new file mode 100644 index 000000000..639aee81f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/GENOCHONDROMATOSIS_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "genochondromatosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030295", + "label": "Metaphyseal chondromatosis of femur" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:137360", + "label": "GENOCHONDROMATOSIS" + } + } + ], + "metaData": { + "created": "2024-06-12T01:41:12.221183Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/GM1_gangliosidosis_type_III_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "gm1-gangliosidosis,_type_iii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0033206", + "label": "Hyperactive Achilles reflex" + } + }, + { + "type": { + "id": "HP:0032582", + "label": "Renal interstitial foam cells" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0007164", + "label": "Slowed slurred speech" + } + }, + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0034434", + "label": "Abnormal communication" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0008166", + "label": "Decreased beta-galactosidase activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:230650", + "label": "GM1-gangliosidosis, type III" + } + } + ], + "metaData": { + "created": "2024-06-11T18:14:04.189591Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/GM1_gangliosidosis_type_II_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/GM1_gangliosidosis_type_II_patient_1.json new file mode 100644 index 000000000..77a44ea1b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/GM1_gangliosidosis_type_II_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "gm1-gangliosidosis,_type_ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000212", + "label": "Gingival overgrowth" + } + }, + { + "type": { + "id": "HP:0000280", + "label": "Coarse facial features" + } + }, + { + "type": { + "id": "HP:0000943", + "label": "Dysostosis multiplex" + } + }, + { + "type": { + "id": "HP:0010808", + "label": "Protruding tongue" + } + }, + { + "type": { + "id": "HP:0005619", + "label": "Thoracolumbar kyphosis" + } + }, + { + "type": { + "id": "HP:0002123", + "label": "Generalized myoclonic seizure" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0002510", + "label": "Spastic tetraplegia" + } + }, + { + "type": { + "id": "HP:0001622", + "label": "Premature birth" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0002015", + "label": "Dysphagia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:230600", + "label": "GM1-gangliosidosis, type II" + } + } + ], + "metaData": { + "created": "2024-06-11T22:23:57.613527Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/GM2_gangliosidosis_AB_variant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/GM2_gangliosidosis_AB_variant_patient_1.json new file mode 100644 index 000000000..6c0da11b8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/GM2_gangliosidosis_AB_variant_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "gm2-gangliosidosis,_ab_variant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002476", + "label": "Primitive reflex" + } + }, + { + "type": { + "id": "HP:0002059", + 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"http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/GONADOBLASTOMA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/GONADOBLASTOMA_patient_1.json new file mode 100644 index 000000000..8073476ae --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/GONADOBLASTOMA_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "gonadoblastoma", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001939", + "label": "Abnormality of metabolism/homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:424500", + "label": "GONADOBLASTOMA" + } + } + ], + "metaData": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Galactokinase_deficiency_patient_1.json new file mode 100644 index 000000000..4eee7a02b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Galactokinase_deficiency_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "galactokinase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + }, + { + "type": { + "id": "HP:0006579", + "label": "Prolonged neonatal jaundice" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:230200", + "label": "Galactokinase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T21:26:21.738223Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Galactosemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Galactosemia_patient_1.json new file mode 100644 index 000000000..3f6740b87 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Galactosemia_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "galactosemia", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031964", + "label": "Elevated circulating alanine aminotransferase concentration" + } + }, + { + "type": { + "id": "HP:0031066", + "label": "Abnormal ovarian physiology" + } + }, + { + "type": { + "id": "HP:0410061", + "label": "Increased level of galactitol in plasma" + } + }, + { + "type": { + "id": "HP:0002254", + "label": "Intermittent diarrhea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:230400", + "label": "Galactosemia" + } + } + ], + "metaData": 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gallbladder_agenesis_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "gallbladder,_agenesis_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001438", + "label": "Abnormal abdomen morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:137040", + "label": "Gallbladder, agenesis of" + } + } + ], + "metaData": { + "created": "2024-06-11T20:57:32.569150Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Gallbladder_disease_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gallbladder_disease_1_patient_1.json new file mode 100644 index 000000000..f4fe15341 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gallbladder_disease_1_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "gallbladder_disease_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001081", + "label": "Cholelithiasis" + } + }, + { + "type": { + "id": "HP:0011980", + "label": "Cholesterol gallstones" + } + }, + { + "type": { + "id": "HP:0410042", + "label": "Abnormal liver morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600803", + "label": "Gallbladder disease 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:43:46.585416Z", + "createdBy": "phenotype2phenopacket", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Galloway_Mowat_syndrome_4_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "galloway-mowat_syndrome_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0002126", + "label": "Polymicrogyria" + } + }, + { + "type": { + "id": "HP:0001321", + "label": "Cerebellar hypoplasia" + } + }, + { + "type": { + "id": "HP:0001357", + "label": "Plagiocephaly" + } + }, + { + "type": { + "id": "HP:0000411", + "label": "Protruding ear" + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0008677", + "label": "Congenital nephrotic syndrome" + } + }, + { 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Galloway_Mowat_syndrome_6_patient_1.json new file mode 100644 index 000000000..cf4fb88ca --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Galloway_Mowat_syndrome_6_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "galloway-mowat_syndrome_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000691", + "label": "Microdontia" + } + }, + { + "type": { + "id": "HP:0000749", + "label": "Paroxysmal bursts of laughter" + } + }, + { + "type": { + "id": "HP:0002750", + "label": "Delayed skeletal maturation" + } + }, + { + "type": { + "id": "HP:0000093", + "label": "Proteinuria" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:0012758", + "label": "Neurodevelopmental delay" + } + }, + { + "type": { + "id": "HP:0000629", + "label": "Periorbital fullness" + } + }, + { + "type": { + "id": "HP:0002360", + "label": "Sleep abnormality" + } + }, + { + "type": { + "id": "HP:0006855", + "label": "Cerebellar vermis atrophy" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0025648", + "label": "Steroid-sensitive nephrotic syndrome with infrequent relapses" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618347", + "label": "Galloway-Mowat syndrome 6" + } + } + ], + "metaData": { + "created": "2024-06-11T22:22:58.327916Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Galloway_Mowat_syndrome_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Galloway_Mowat_syndrome_7_patient_1.json new file mode 100644 index 000000000..c5831edef --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Galloway_Mowat_syndrome_7_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "galloway-mowat_syndrome_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003124", + "label": "Hypercholesterolemia" + } + }, + { + "type": { + "id": "HP:0001166", + "label": "Arachnodactyly" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0000340", + "label": "Sloping forehead" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0011351", + "label": "Moderate receptive language delay" + } + }, + { + "type": { + "id": "HP:0004485", + "label": "Cessation of head growth" + } + }, + { + "type": { + "id": "HP:0000319", + "label": "Smooth philtrum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618348", + "label": "Galloway-Mowat syndrome 7" + } + } + ], + "metaData": { + "created": "2024-06-11T19:53:49.804951Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Galloway_Mowat_syndrome_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Galloway_Mowat_syndrome_8_patient_1.json new file mode 100644 index 000000000..f11e146d1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Galloway_Mowat_syndrome_8_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "galloway-mowat_syndrome_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002120", + "label": "Cerebral cortical atrophy" + } + }, + { + "type": { + "id": "HP:0012211", + "label": "Abnormal renal physiology" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0031263", + "label": "Abnormal renal corpuscle morphology" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0002538", + "label": "Abnormal cerebral cortex morphology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0000549", + "label": "Abnormal conjugate eye movement" + } + }, + { + "type": { + "id": "HP:0006913", + "label": "Frontal cortical atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618349", + "label": "Galloway-Mowat syndrome 8" + } + } + ], + "metaData": { + "created": "2024-06-11T20:06:39.148906Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Galloway_Mowat_syndrome_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Galloway_Mowat_syndrome_9_patient_1.json new file mode 100644 index 000000000..4b785e3cd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Galloway_Mowat_syndrome_9_patient_1.json @@ -0,0 +1,74 @@ +{ + "id": "galloway-mowat_syndrome_9", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001272", + "label": "Cerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + } + }, + { + "type": { + "id": "HP:0033725", + "label": "Thin corpus callosum" + } + }, + { + "type": { + "id": "HP:0100547", + "label": "Abnormal forebrain morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619603", + "label": "Galloway-Mowat syndrome 9" + } + } + ], + "metaData": { + "created": "2024-06-11T23:32:58.109371Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Gamma_A_Globulin_defect_in_assembly_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gamma_A_Globulin_defect_in_assembly_of_patient_1.json new file mode 100644 index 000000000..68867d01e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gamma_A_Globulin_defect_in_assembly_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "gamma-a-globulin,_defect_in_assembly_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002205", + "label": "Recurrent respiratory infections" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:137050", + "label": "Gamma-A-Globulin, defect in assembly of" + } + } + ], + "metaData": { + "created": "2024-06-11T19:27:04.139617Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Garg_Mishra_progeroid_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Garg_Mishra_progeroid_syndrome_patient_1.json new file mode 100644 index 000000000..f090bd608 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Garg_Mishra_progeroid_syndrome_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "garg-mishra_progeroid_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0008897", + "label": "Postnatal growth retardation" + } + }, + { + "type": { + "id": "HP:0004474", + "label": "Persistent open anterior fontanelle" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0006236", + "label": "Slender metacarpals" + } + }, + { + "type": { + "id": "HP:0000414", + "label": "Bulbous nose" + } + }, + { + "type": { + "id": "HP:0004768", + "label": "Sparse anterior scalp hair" + } + }, + { + "type": { + "id": "HP:0003309", + "label": "Ovoid thoracolumbar vertebrae" + } + }, + { + "type": { + "id": "HP:0007633", + "label": "Bilateral microphthalmos" + } + }, + { + "type": { + "id": "HP:0000678", + "label": "Dental crowding" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620601", + "label": "Garg-Mishra progeroid syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:05:35.668955Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastric_adenocarcinoma_and_proximal_polyposis_of_the_stomach_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastric_adenocarcinoma_and_proximal_polyposis_of_the_stomach_patient_1.json new file mode 100644 index 000000000..d6922c119 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastric_adenocarcinoma_and_proximal_polyposis_of_the_stomach_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "gastric_adenocarcinoma_and_proximal_polyposis_of_the_stomach", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006753", + "label": "Neoplasm of the stomach" + } + }, + { + "type": { + "id": "HP:0410281", + "label": "Dyspepsia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619182", + "label": "Gastric adenocarcinoma and proximal polyposis of the stomach" + } + } + ], + "metaData": { + "created": "2024-06-11T18:12:54.039519Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": 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"id": "OMIM:137215", + "label": "Gastric cancer, hereditary diffuse" + } + } + ], + "metaData": { + "created": "2024-06-11T23:57:41.271902Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastric_cancer_somatic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastric_cancer_somatic_patient_1.json new file mode 100644 index 000000000..a8f518e68 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastric_cancer_somatic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "gastric_cancer,_somatic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0410067", + "label": "Increased level of L-fucose in urine" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613659", + "label": "Gastric cancer, somatic" + } + } + ], + "metaData": { + "created": "2024-06-11T23:06:41.850854Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastric_lymphoma_primary_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastric_lymphoma_primary_patient_1.json new file mode 100644 index 000000000..76dfd7c06 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastric_lymphoma_primary_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "gastric_lymphoma,_primary", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0045038", + "label": "Gastric lymphoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:137245", + "label": "Gastric lymphoma, primary" + } + } + ], + "metaData": { + "created": "2024-06-11T19:47:21.947900Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastritis_familial_giant_hypertrophic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastritis_familial_giant_hypertrophic_patient_1.json new file mode 100644 index 000000000..a57543cfb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastritis_familial_giant_hypertrophic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "gastritis,_familial_giant_hypertrophic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002617", + "label": "Vascular dilatation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:137280", + "label": "Gastritis, familial giant hypertrophic" + } + } + ], + "metaData": { + "created": "2024-06-11T20:41:09.892253Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastrocutaneous_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastrocutaneous_syndrome_patient_1.json new file mode 100644 index 000000000..cce690fe3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastrocutaneous_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "gastrocutaneous_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004398", + "label": "Peptic ulcer" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:137270", + "label": "Gastrocutaneous syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:29:17.057101Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastroesophageal_reflux_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastroesophageal_reflux_patient_1.json new file mode 100644 index 000000000..341827c0e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastroesophageal_reflux_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "gastroesophageal_reflux", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100580", + "label": "Barrett esophagus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:109350", + "label": "Gastroesophageal reflux" + } + } + ], + "metaData": { + "created": "2024-06-11T20:39:26.035471Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + 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+ } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastrointestinal_defects_and_immunodeficiency_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastrointestinal_defects_and_immunodeficiency_syndrome_patient_1.json new file mode 100644 index 000000000..ac9fff7e4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastrointestinal_defects_and_immunodeficiency_syndrome_patient_1.json @@ -0,0 +1,147 @@ +{ + "id": "gastrointestinal_defects_and_immunodeficiency_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011100", + "label": "Intestinal atresia" + } + }, + { + "type": { + "id": "HP:0032220", + "label": "Interface hepatitis" + } + }, + { + "type": { + "id": "HP:0002566", + "label": "Intestinal malrotation" + } + }, + { + "type": { + "id": "HP:0003765", + "label": "Psoriasiform dermatitis" 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastrointestinal_stromal_tumor_GIST_plus_syndrome_somatic_or_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastrointestinal_stromal_tumor_GIST_plus_syndrome_somatic_or_familial_patient_1.json new file mode 100644 index 000000000..2a05e2a31 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastrointestinal_stromal_tumor_GIST_plus_syndrome_somatic_or_familial_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "gastrointestinal_stromal_tumor/gist-plus_syndrome,_somatic_or_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200008", + "label": "Intestinal polyposis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:175510", + "label": "Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial" + } + } + ], + "metaData": { + "created": "2024-06-11T19:40:41.671595Z", + "createdBy": "phenotype2phenopacket", + 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"iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastrointestinal_ulceration_recurrent_with_dysfunctional_platelets_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastrointestinal_ulceration_recurrent_with_dysfunctional_platelets_patient_1.json new file mode 100644 index 000000000..bdc969db8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastrointestinal_ulceration_recurrent_with_dysfunctional_platelets_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "gastrointestinal_ulceration,_recurrent,_with_dysfunctional_platelets", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004791", + "label": "Esophageal ulceration" + } + }, + { + "type": { + "id": "HP:0012718", + "label": "Abnormal gastrointestinal tract morphology" + } + }, + { + "type": { + "id": "HP:0031127", + "label": "Impaired convulxin-induced platelet aggregation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618372", + "label": "Gastrointestinal ulceration, recurrent, with dysfunctional platelets" + } + } + ], + "metaData": { + "created": "2024-06-11T20:46:05.743515Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastroschisisabdominal_wall_defects_included_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastroschisisabdominal_wall_defects_included_patient_1.json new file mode 100644 index 000000000..875b1aceb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gastroschisisabdominal_wall_defects_included_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "gastroschisisabdominal_wall_defects,_included", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010866", + "label": "Abdominal wall defect" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:230750", + "label": "Gastroschisisabdominal wall defects, included" + } + } + ], + "metaData": { + "created": "2024-06-11T19:26:06.662364Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gaucher_disease_perinatal_lethal_patient_1.json new file mode 100644 index 000000000..491dfd270 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gaucher_disease_perinatal_lethal_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "gaucher_disease,_perinatal_lethal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0002089", + "label": "Pulmonary hypoplasia" + } + }, + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0001433", + "label": "Hepatosplenomegaly" + } + }, + { + "type": { + "id": "HP:0031365", + "label": "Macular 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000000000..a78a7383a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gaze_palsy_familial_horizontal_with_progressive_scoliosis_2_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "gaze_palsy,_familial_horizontal,_with_progressive_scoliosis,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033646", + "label": "Absent hippocampal commissure" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001335", + "label": "Bimanual synkinesia" + } + }, + { + "type": { + "id": "HP:0006850", + "label": "Hypoplasia of the ventral pons" + } + }, + { + "type": { + "id": "HP:0033645", + "label": "Midline brainstem cleft" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617542", + "label": "Gaze palsy, familial horizontal, with progressive scoliosis, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T17:58:39.542715Z", + "createdBy": 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"HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0012252", + "label": "Abnormal respiratory system morphology" + } + }, + { + "type": { + "id": "HP:0002878", + "label": "Respiratory failure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617809", + "label": "Geleophysic dysplasia 3" + } + } + ], + "metaData": { + "created": "2024-06-11T23:33:23.690086Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Generalized_epilepsy_with_febrile_seizures_plus_type_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Generalized_epilepsy_with_febrile_seizures_plus_type_10_patient_1.json new file mode 100644 index 000000000..ad604be38 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Generalized_epilepsy_with_febrile_seizures_plus_type_10_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "generalized_epilepsy_with_febrile_seizures_plus,_type_10", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { 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+} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Generalized_epilepsy_with_febrile_seizures_plus_type_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Generalized_epilepsy_with_febrile_seizures_plus_type_1_patient_1.json new file mode 100644 index 000000000..763032dac --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Generalized_epilepsy_with_febrile_seizures_plus_type_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "generalized_epilepsy_with_febrile_seizures_plus,_type_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002121", + "label": "Generalized non-motor (absence) seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604233", + "label": "Generalized epilepsy with febrile seizures plus, type 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:12:29.543531Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + 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"generalized_epilepsy_with_febrile_seizures_plus,_type_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002121", + "label": "Generalized non-motor (absence) seizure" + } + }, + { + "type": { + "id": "HP:0006813", + "label": "Focal hemiclonic seizure" + } + }, + { + "type": { + "id": "HP:0002373", + "label": "Febrile seizure (within the age range of 3 months to 6 years)" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604403", + "label": "Generalized epilepsy with febrile seizures plus, type 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:46:35.562497Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Generalized_epilepsy_with_febrile_seizures_plus_type_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Generalized_epilepsy_with_febrile_seizures_plus_type_4_patient_1.json new file mode 100644 index 000000000..c7cd89baf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Generalized_epilepsy_with_febrile_seizures_plus_type_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "generalized_epilepsy_with_febrile_seizures_plus,_type_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002069", + "label": "Bilateral tonic-clonic seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609800", + "label": "Generalized epilepsy with febrile seizures plus, type 4" + } + } + ], + "metaData": { + "created": "2024-06-11T18:34:16.246583Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Generalized_epilepsy_with_febrile_seizures_plus_type_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Generalized_epilepsy_with_febrile_seizures_plus_type_7_patient_1.json new file mode 100644 index 000000000..c6a5c3725 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Generalized_epilepsy_with_febrile_seizures_plus_type_7_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "generalized_epilepsy_with_febrile_seizures_plus,_type_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002121", + "label": "Generalized non-motor (absence) seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613863", + "label": "Generalized epilepsy with febrile seizures plus, type 7" + } + } + ], + "metaData": { + "created": "2024-06-11T18:07:07.274912Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Generalized_epilepsy_with_febrile_seizures_plus_type_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Generalized_epilepsy_with_febrile_seizures_plus_type_9_patient_1.json new file mode 100644 index 000000000..3ec57b091 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Generalized_epilepsy_with_febrile_seizures_plus_type_9_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "generalized_epilepsy_with_febrile_seizures_plus,_type_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032792", + "label": 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index 000000000..1884254d3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Geniospasm_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "geniospasm_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000739", + "label": "Anxiety" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:190100", + "label": "Geniospasm 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:06:37.819666Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Genitopalatocardiac_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Genitopalatocardiac_syndrome_patient_1.json new file mode 100644 index 000000000..dfec6d449 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Genitopalatocardiac_syndrome_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "genitopalatocardiac_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000047", + "label": "Hypospadias" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0001719", + "label": "Double outlet right ventricle" + } + }, + { + "type": { + "id": "HP:0000204", + "label": "Cleft upper lip" + } + }, + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0012020", + "label": "Right aortic arch" + } + }, + { + "type": { + "id": "HP:0001669", + "label": "Transposition of the great arteries" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:231060", + "label": "Genitopalatocardiac syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:02:33.997431Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Genitopatellar_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Genitopatellar_syndrome_patient_1.json new file mode 100644 index 000000000..51451da5d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Genitopatellar_syndrome_patient_1.json @@ -0,0 +1,225 @@ +{ + "id": "genitopatellar_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000280", + "label": "Coarse facial features" + } + }, + { + "type": { + "id": "HP:0002209", + "label": "Sparse scalp hair" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0000684", + "label": "Delayed eruption of teeth" + } + }, + { + "type": { + "id": "HP:0000448", + "label": "Prominent nose" + } + }, + { + "type": { + "id": "HP:0000445", + "label": "Wide nose" + } + }, + { + "type": { + "id": "HP:0033725", + "label": "Thin corpus callosum" + } + }, + { + "type": { + "id": "HP:0002089", + "label": "Pulmonary hypoplasia" + } + }, + { + "type": { + "id": "HP:0000126", + "label": "Hydronephrosis" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0011314", + "label": "Abnormal long bone morphology" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0005001", + "label": "Recurrent patellar dislocation" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0000253", + "label": "Progressive microcephaly" + } + }, + { + "type": { + "id": "HP:0012243", + "label": "Abnormal reproductive system morphology" + } + }, + { + "type": { + "id": "HP:0011297", + "label": "Abnormal digit morphology" + } + }, + { + "type": { + "id": "HP:0000056", + "label": "Abnormal clitoris morphology" + } + }, + { + "type": { + "id": "HP:0012243", + "label": "Abnormal reproductive system morphology" + } + }, + { + "type": { + "id": "HP:0012815", + "label": "Hypoplastic female external genitalia" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0200006", + "label": "Slanting of the palpebral fissure" + } + }, + { + "type": { + "id": "HP:0030048", + "label": "Colpocephaly" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0003121", + "label": "Limb joint contracture" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606170", + "label": "Genitopatellar syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:47:03.189212Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Genitourinary_and_or_brain_malformation_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Genitourinary_and_or_brain_malformation_syndrome_patient_1.json new file mode 100644 index 000000000..c94bb10a8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Genitourinary_and_or_brain_malformation_syndrome_patient_1.json @@ -0,0 +1,165 @@ +{ + "id": "genitourinary_and/or/brain_malformation_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000047", + "label": "Hypospadias" + } + }, + { + "type": { + "id": "HP:0000286", + "label": "Epicanthus" + } + }, + { + "type": { + "id": "HP:0010941", + "label": "Aplasia of the nasal bone" + } + }, + { + "type": { + "id": "HP:0008665", + "label": "Clitoral hypertrophy" + } + }, + { + "type": { + "id": "HP:0000537", + "label": "Epicanthus inversus" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0000054", + "label": "Micropenis" + } + }, + { + "type": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Genitourinary_tract_anomalies_patient_1.json new file mode 100644 index 000000000..831e1cc0e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Genitourinary_tract_anomalies_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "genitourinary_tract_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000119", + "label": "Abnormality of the genitourinary system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:305690", + "label": "Genitourinary tract anomalies" + } + } + ], + "metaData": { + "created": "2024-06-11T21:56:51.015388Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Giacheti_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Giacheti_syndrome_patient_1.json new file mode 100644 index 000000000..b7dde08ca --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Giacheti_syndrome_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "giacheti_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000276", + "label": "Long face" + } + }, + { + "type": { + "id": "HP:0000348", + "label": "High forehead" + } + }, + { + "type": { + "id": "HP:0001548", + "label": "Overgrowth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612917", + "label": "Giacheti syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:33:36.782243Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Giant_neutrophil_leukocytes_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Giant_neutrophil_leukocytes_patient_1.json new file mode 100644 index 000000000..f1f73b754 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Giant_neutrophil_leukocytes_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "giant_neutrophil_leukocytes", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001871", + "label": "Abnormality of blood and blood-forming tissues" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:137500", + "label": "Giant neutrophil leukocytes" + } + } + ], + "metaData": { + "created": "2024-06-11T21:23:47.550950Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0006298", + "label": "Prolonged bleeding after dental extraction" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:137560", + "label": "Giant platelet syndrome with thrombocytopenia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:28:20.284334Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Gigantiform_cementoma_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gigantiform_cementoma_familial_patient_1.json new file mode 100644 index 000000000..4782d8eca --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gigantiform_cementoma_familial_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "gigantiform_cementoma,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012328", + "label": "Cementoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:137575", + "label": "Gigantiform cementoma, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:57.118596Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Gilbert_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gilbert_syndrome_patient_1.json new file mode 100644 index 000000000..9b56e6b90 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gilbert_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "gilbert_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008282", + "label": "Unconjugated hyperbilirubinemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:143500", + "label": "Gilbert syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:01:26.033809Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Gilles_de_la_tourette_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gilles_de_la_tourette_syndrome_patient_1.json new file mode 100644 index 000000000..191b853e6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gilles_de_la_tourette_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "gilles_de_la_tourette_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100035", + "label": "Phonic tics" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:137580", + "label": "Gilles de la tourette syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T17:42:56.341093Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Gillespie_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gillespie_syndrome_patient_1.json new file mode 100644 index 000000000..e8cb1694b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gillespie_syndrome_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "gillespie_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0007676", + "label": "Hypoplasia of the iris" + } + }, + { + "type": { + "id": "HP:0000526", + "label": "Aniridia" + } + }, + { + "type": { + "id": "HP:0006955", + "label": "Olivopontocerebellar hypoplasia" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0012758", + "label": "Neurodevelopmental delay" + } + }, + { + "type": { + "id": "HP:0007164", + "label": "Slowed slurred speech" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:206700", + "label": "Gillespie syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:53:47.146986Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Gillessen_Kaesbach_Nishimura_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gillessen_Kaesbach_Nishimura_syndrome_patient_1.json new file mode 100644 index 000000000..76239d0fa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gillessen_Kaesbach_Nishimura_syndrome_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "gillessen-kaesbach-nishimura_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000813", + "label": "Bicornuate uterus" + } + }, + { + "type": { + "id": "HP:0000474", + "label": "Thickened nuchal skin fold" + } + }, + { + "type": { + "id": "HP:0004331", + "label": "Decreased skull ossification" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0001405", + "label": "Periportal fibrosis" + } + }, + { + "type": { + "id": "HP:0006055", + "label": "Ulnar deviated club hands" + } + }, + { + "type": { + "id": "HP:0005028", + "label": "Widened proximal tibial metaphyses" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:263210", + "label": "Gillessen-Kaesbach-Nishimura syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:36:42.124989Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Gitelman_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gitelman_syndrome_patient_1.json new file mode 100644 index 000000000..beaec0d76 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gitelman_syndrome_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "gitelman_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0002615", + "label": "Hypotension" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0004756", + "label": "Ventricular tachycardia" + } + }, + { + "type": { + "id": "HP:0003470", + "label": "Paralysis" + } + }, + { + "type": { + "id": "HP:0003324", + "label": "Generalized muscle weakness" + } + }, + { + "type": { + "id": "HP:0000103", + "label": "Polyuria" + } + }, + { + "type": { + "id": "HP:0001949", + "label": "Hypokalemic alkalosis" + } + }, + { + "type": { + "id": "HP:0000622", + "label": "Blurred vision" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0002917", + "label": "Hypomagnesemia" + } + }, + { + "type": { + "id": "HP:0000009", + "label": "Functional abnormality of the bladder" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:263800", + "label": "Gitelman syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T17:43:42.282622Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glanzmann_thrombasthenia_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glanzmann_thrombasthenia_2_patient_1.json new file mode 100644 index 000000000..c8e242855 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glanzmann_thrombasthenia_2_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "glanzmann_thrombasthenia_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008320", + "label": "Impaired collagen-induced platelet aggregation" + } + }, + { + "type": { + "id": "HP:0030402", + "label": "Abnormal platelet aggregation" + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619267", + "label": "Glanzmann thrombasthenia 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:26:47.957407Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glanzmann_thrombasthenia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glanzmann_thrombasthenia_patient_1.json new file mode 100644 index 000000000..888dfce3a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glanzmann_thrombasthenia_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "glanzmann_thrombasthenia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001975", + "label": "Decreased platelet glycoprotein IIb-IIIa" + } + }, + { + "type": { + "id": "HP:0000978", + "label": "Bruising susceptibility" + } + }, + { + "type": { + "id": "HP:0003540", + "label": "Impaired platelet aggregation" + } + }, + { + "type": { + "id": "HP:0011869", + "label": "Abnormal platelet function" + } + }, + { + "type": { + "id": "HP:0031365", + "label": "Macular purpura" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:273800", + "label": "Glanzmann thrombasthenia" + } + } + ], + "metaData": { + "created": "2024-06-11T19:02:30.464783Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glass_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glass_syndrome_patient_1.json new file mode 100644 index 000000000..af127a5de --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glass_syndrome_patient_1.json @@ -0,0 +1,128 @@ +{ + "id": "glass_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P25Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0002104", + "label": "Apnea" + } + }, + { + "type": { + "id": "HP:0000718", + "label": "Aggressive behavior" + } + }, + { + "type": { + "id": "HP:0000963", + "label": "Thin skin" + } + }, + { + "type": { + "id": "HP:0000348", + "label": "High forehead" + } + }, + { + "type": { + "id": "HP:0000678", + "label": "Dental crowding" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0008070", + "label": "Sparse hair" + } + }, + { + "type": { + "id": "HP:0000460", + "label": "Narrow nose" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0000297", + "label": "Facial hypotonia" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0000677", + "label": "Oligodontia" + } + }, + { + "type": { + "id": "HP:0000358", + "label": "Posteriorly rotated ears" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612313", + "label": "Glass syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:50:16.653665Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_1_open_angle_A_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_1_open_angle_A_patient_1.json new file mode 100644 index 000000000..6e6ef15a9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_1_open_angle_A_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "glaucoma_1,_open_angle,_a", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000501", + "label": "Glaucoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:137750", + "label": "Glaucoma 1, open angle, A" + } + } + ], + "metaData": { + "created": "2024-06-11T19:02:00.708069Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_1_open_angle_F_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_1_open_angle_F_patient_1.json new file mode 100644 index 000000000..01c824552 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_1_open_angle_F_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "glaucoma_1,_open_angle,_f", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012108", + "label": "Open angle glaucoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603383", + "label": "Glaucoma 1, open angle, F" + } + } + ], + "metaData": { + "created": "2024-06-11T20:37:45.038560Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_1_open_angle_G_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_1_open_angle_G_patient_1.json new file mode 100644 index 000000000..d6a8bf078 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_1_open_angle_G_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "glaucoma_1,_open_angle,_g", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012108", + "label": "Open angle glaucoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609887", + "label": "Glaucoma 1, open angle, G" + } + } + ], + "metaData": { + "created": "2024-06-11T21:03:39.490200Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_1_open_angle_M_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_1_open_angle_M_patient_1.json new file mode 100644 index 000000000..6d5c3772c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_1_open_angle_M_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "glaucoma_1,_open_angle,_m", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012108", + "label": "Open angle glaucoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610535", + "label": "Glaucoma 1, open angle, M" + } + } + ], + "metaData": { + "created": "2024-06-11T21:17:14.514506Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_1_open_angle_O_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_1_open_angle_O_patient_1.json new file mode 100644 index 000000000..5abe3b093 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_1_open_angle_O_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "glaucoma_1,_open_angle,_o", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012108", + "label": "Open angle glaucoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613100", + "label": "Glaucoma 1, open angle, O" + } + } + ], + "metaData": { + "created": "2024-06-11T23:29:01.591548Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_1_open_angle_P_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_1_open_angle_P_patient_1.json new file mode 100644 index 000000000..ca9eeda3e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_1_open_angle_P_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "glaucoma_1,_open_angle,_p", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012796", + "label": "Increased cup-to-disc ratio" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:177700", + "label": "Glaucoma 1, open angle, P" + } + } + ], + "metaData": { + "created": "2024-06-11T20:01:24.768166Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_1_primary_open_angle_C_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_1_primary_open_angle_C_patient_1.json new file mode 100644 index 000000000..968cbf358 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_1_primary_open_angle_C_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "glaucoma_1,_primary_open_angle,_c", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000501", + "label": "Glaucoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601682", + "label": "Glaucoma 1, primary open angle, C" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:03.275751Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_3_primary_congenital_A_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_3_primary_congenital_A_patient_1.json new file mode 100644 index 000000000..b4ebc696a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_3_primary_congenital_A_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "glaucoma_3,_primary_congenital,_a", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000557", + "label": "Buphthalmos" + } + }, + { + "type": { + "id": "HP:0007906", + "label": "Ocular hypertension" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:231300", + "label": "Glaucoma 3, primary congenital, A" + } + } + ], + "metaData": { + "created": "2024-06-11T19:26:41.881548Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_3_primary_congenital_D_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_3_primary_congenital_D_patient_1.json new file mode 100644 index 000000000..760d952ae --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_3_primary_congenital_D_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "glaucoma_3,_primary_congenital,_d", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + }, + { + "type": { + "id": "HP:0000481", + "label": "Abnormal cornea morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613086", + "label": "Glaucoma 3, primary congenital, D" + } + } + ], + "metaData": { + "created": "2024-06-11T18:43:26.198180Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_3_primary_congenital_E_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_3_primary_congenital_E_patient_1.json new file mode 100644 index 000000000..4f167e381 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_3_primary_congenital_E_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "glaucoma_3,_primary_congenital,_e", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012040", + "label": "Corneal stromal edema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617272", + "label": "Glaucoma 3, primary congenital, E" + } + } + ], + "metaData": { + "created": "2024-06-11T21:16:12.207779Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_3_primary_infantile_B_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_3_primary_infantile_B_patient_1.json new file mode 100644 index 000000000..5dd2521f7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_3_primary_infantile_B_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "glaucoma_3,_primary_infantile,_b", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008007", + "label": "Primary congenital glaucoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600975", + "label": "Glaucoma 3, primary infantile, B" + } + } + ], + "metaData": { + "created": "2024-06-11T23:18:34.038014Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_Related_pigment_dispersion_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_Related_pigment_dispersion_syndrome_patient_1.json new file mode 100644 index 000000000..8f6a44038 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_Related_pigment_dispersion_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "glaucoma-related_pigment_dispersion_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600510", + "label": "Glaucoma-Related pigment dispersion syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:29:36.729059Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_primary_closed_angle_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_primary_closed_angle_patient_1.json new file mode 100644 index 000000000..626a4443e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_primary_closed_angle_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "glaucoma,_primary_closed-angle", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012109", + "label": "Angle closure glaucoma" + } + }, + { + "type": { + "id": "HP:0007906", + "label": "Ocular hypertension" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618880", + "label": "Glaucoma, primary closed-angle" + } + } + ], + "metaData": { + "created": "2024-06-11T17:53:04.793026Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_primary_open_angle_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_primary_open_angle_patient_1.json new file mode 100644 index 000000000..0bd19a83d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_primary_open_angle_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "glaucoma,_primary_open_angle", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012108", + "label": "Open angle glaucoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:137760", + "label": "Glaucoma, primary open angle" + } + } + ], + "metaData": { + "created": "2024-06-11T22:46:05.476675Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_sleep_apnea_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_sleep_apnea_patient_1.json new file mode 100644 index 000000000..4f4946538 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glaucoma_sleep_apnea_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "glaucoma_-_sleep_apnea", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010535", + "label": "Sleep apnea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:137763", + "label": "Glaucoma - sleep apnea" + } + } + ], + "metaData": { + "created": "2024-06-11T23:11:04.615814Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glioma_susceptibility_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glioma_susceptibility_1_patient_1.json new file mode 100644 index 000000000..b19eb2c29 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glioma_susceptibility_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "glioma_susceptibility_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009592", + "label": "Astrocytoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:137800", + "label": "Glioma susceptibility 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:39:26.112730Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glioma_susceptibility_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glioma_susceptibility_2_patient_1.json new file mode 100644 index 000000000..00dd2ea75 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glioma_susceptibility_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "glioma_susceptibility_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033681", + "label": "Oligodendroglioma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613028", + "label": "Glioma susceptibility 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:16:55.215104Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glioma_susceptibility_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glioma_susceptibility_3_patient_1.json new file mode 100644 index 000000000..0f32562fb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glioma_susceptibility_3_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "glioma_susceptibility_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009592", + "label": "Astrocytoma" + } + }, + { + "type": { + "id": "HP:0004812", + "label": "B Acute Lymphoblastic Leukemia" + } + }, + { + "type": { + "id": "HP:0012174", + "label": "Glioblastoma multiforme" + } + }, + { + "type": { + "id": "HP:0007129", + "label": "Cerebellar medulloblastoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613029", + "label": "Glioma susceptibility 3" + } + } + ], + "metaData": { + "created": "2024-06-11T21:12:15.037028Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Global_developmental_delay_absent_or_hypoplastic_corpus_callosum_and_dysmorphic_facies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Global_developmental_delay_absent_or_hypoplastic_corpus_callosum_and_dysmorphic_facies_patient_1.json new file mode 100644 index 000000000..2ed7dd7db --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Global_developmental_delay_absent_or_hypoplastic_corpus_callosum_and_dysmorphic_facies_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "global_developmental_delay,_absent_or_hypoplastic_corpus_callosum,_and_dysmorphic_facies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001319", + "label": "Neonatal hypotonia" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0006610", + "label": "Wide intermamillary distance" + } + }, + { + "type": { + "id": "HP:0010851", + "label": "EEG with burst suppression" + } + }, + { + "type": { + "id": "HP:0002079", + "label": "Hypoplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0000540", + "label": "Hypermetropia" + } + }, + { + "type": { + "id": "HP:0002465", + "label": "Poor speech" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617260", + "label": "Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies" + } + } + ], + "metaData": { + "created": "2024-06-11T22:05:27.698077Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Global_developmental_delay_lung_cysts_overgrowth_and_wilms_tumor_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Global_developmental_delay_lung_cysts_overgrowth_and_wilms_tumor_patient_1.json new file mode 100644 index 000000000..aa77c8d12 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Global_developmental_delay_lung_cysts_overgrowth_and_wilms_tumor_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "global_developmental_delay,_lung_cysts,_overgrowth,_and_wilms_tumor", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032445", + "label": "Pulmonary cyst" + } + }, + { + "type": { + "id": "HP:0001520", + "label": "Large for gestational age" + } + }, + { + "type": { + "id": "HP:0000105", + "label": "Enlarged kidney" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0001548", + "label": "Overgrowth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618272", + "label": "Global developmental delay, lung cysts, overgrowth, and wilms tumor" + } + } + ], + "metaData": { + "created": "2024-06-11T18:35:26.677680Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Global_developmental_delay_progressive_ataxia_and_elevated_glutamine_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Global_developmental_delay_progressive_ataxia_and_elevated_glutamine_patient_1.json new file mode 100644 index 000000000..157a787d0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Global_developmental_delay_progressive_ataxia_and_elevated_glutamine_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "global_developmental_delay,_progressive_ataxia,_and_elevated_glutamine", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002073", + "label": "Progressive cerebellar ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618412", + "label": "Global developmental delay, progressive ataxia, and elevated glutamine" + } + } + ], + "metaData": { + "created": "2024-06-11T19:54:24.766962Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Global_developmental_delay_with_or_without_impaired_intellectual_development_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Global_developmental_delay_with_or_without_impaired_intellectual_development_patient_1.json new file mode 100644 index 000000000..7a2dd5129 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Global_developmental_delay_with_or_without_impaired_intellectual_development_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "global_developmental_delay_with_or_without_impaired_intellectual_development", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012704", + "label": "Widened subarachnoid space" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0032988", + "label": "Persistent head lag" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001671", + "label": "Abnormal cardiac septum morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618330", + "label": "Global developmental delay with or without impaired intellectual development" + } + } + ], + "metaData": { + "created": "2024-06-12T00:31:50.173100Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Globulin_anomaly_involving_beta_2a_globulin_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Globulin_anomaly_involving_beta_2a_globulin_patient_1.json new file mode 100644 index 000000000..c4125f6ea --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Globulin_anomaly_involving_beta_2a_globulin_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "globulin_anomaly_involving_beta_(2a)-globulin", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002715", + "label": "Abnormality of the immune system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:137900", + "label": "Globulin anomaly involving beta (2a)-globulin" + } + } + ], + "metaData": { + "created": "2024-06-11T20:42:36.347334Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": 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+ "id": "glomerulocystic_kidney_disease_with_hyperuricemia_and_isosthenuria", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000091", + "label": "Abnormal renal tubule morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609886", + "label": "Glomerulocystic kidney disease with hyperuricemia and isosthenuria" + } + } + ], + "metaData": { + "created": "2024-06-11T21:24:52.630460Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glomerulopathy_with_fibronectin_deposits_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glomerulopathy_with_fibronectin_deposits_1_patient_1.json new file mode 100644 index 000000000..34075b462 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glomerulopathy_with_fibronectin_deposits_1_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "glomerulopathy_with_fibronectin_deposits_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000822", + "label": "Hypertension" + } + }, + { + "type": { + "id": "HP:0012211", + "label": "Abnormal renal physiology" + } + }, + { + "type": { + "id": "HP:0012595", + "label": "Mild proteinuria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:137950", + "label": "Glomerulopathy with fibronectin deposits 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:10:57.204308Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glomerulopathy_with_fibronectin_deposits_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glomerulopathy_with_fibronectin_deposits_2_patient_1.json new file mode 100644 index 000000000..84cef9d43 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glomerulopathy_with_fibronectin_deposits_2_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "glomerulopathy_with_fibronectin_deposits_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000822", + "label": "Hypertension" + } + }, + { + "type": { + "id": "HP:0030162", + "label": "Glomerulomegaly" + } + }, + { + "type": { + "id": "HP:0002907", + "label": "Microscopic hematuria" + } + }, + { + "type": { + "id": "HP:0000093", + "label": "Proteinuria" + } + }, + { + "type": { + "id": "HP:0000100", + "label": "Nephrotic syndrome" + } + }, + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601894", + "label": "Glomerulopathy with fibronectin deposits 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:47:42.931154Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glomerulosclerosis_focal_segmental_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glomerulosclerosis_focal_segmental_5_patient_1.json new file mode 100644 index 000000000..5d4f45d3b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glomerulosclerosis_focal_segmental_5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "glomerulosclerosis,_focal_segmental,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000822", + "label": "Hypertension" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613237", + "label": "Glomerulosclerosis, focal segmental, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T19:38:24.353958Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glomuvenous_malformations_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glomuvenous_malformations_patient_1.json new file mode 100644 index 000000000..1d1fb796b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glomuvenous_malformations_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "glomuvenous_malformations", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001939", + "label": "Abnormality of metabolism/homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:138000", + "label": "Glomuvenous malformations" + } + } + ], + "metaData": { + "created": "2024-06-11T19:35:43.407115Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glucocorticoid_deficiency_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glucocorticoid_deficiency_1_patient_1.json new file mode 100644 index 000000000..7a59c9d55 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glucocorticoid_deficiency_1_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "glucocorticoid_deficiency_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001259", + "label": "Coma" + } + }, + { + "type": { + "id": "HP:0008163", + "label": "Decreased circulating cortisol level" + } + }, + { + "type": { + "id": "HP:0031074", + "label": "Abnormal response to ACTH stimulation test" + } + }, + { + "type": { + "id": "HP:0000953", + "label": "Hyperpigmentation of the skin" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0012337", + "label": "Abnormal homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:202200", + "label": "Glucocorticoid deficiency 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:54:00.282922Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glucocorticoid_deficiency_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glucocorticoid_deficiency_2_patient_1.json new file mode 100644 index 000000000..aeff3a003 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glucocorticoid_deficiency_2_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "glucocorticoid_deficiency_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011344", + "label": "Severe global developmental delay" + } + }, + { + "type": { + "id": "HP:0032794", + "label": "Myoclonic seizure" + } + }, + { + "type": { + "id": "HP:0008163", + "label": "Decreased circulating cortisol level" + } + }, + { + "type": { + "id": "HP:0006532", + "label": "Recurrent pneumonia" + } + }, + { + "type": { + "id": "HP:0033725", + "label": "Thin corpus callosum" + } + }, + { + "type": { + "id": "HP:0001988", + "label": "Recurrent hypoglycemia" + } + }, + { + "type": { + "id": "HP:0040195", + "label": "Decreased head circumference" + } + }, + { + "type": { + "id": "HP:0001998", + "label": "Neonatal hypoglycemia" + } + }, + { + "type": { + "id": "HP:0008689", + "label": "Bilateral cryptorchidism" + } + }, + { + "type": { + "id": "HP:0000953", + "label": "Hyperpigmentation of the skin" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607398", + "label": "Glucocorticoid deficiency 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:35:59.976188Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glucocorticoid_deficiency_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glucocorticoid_deficiency_3_patient_1.json new file mode 100644 index 000000000..68cfa83a1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glucocorticoid_deficiency_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "glucocorticoid_deficiency_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003154", + "label": "Increased circulating ACTH level" + } + }, + { + "type": { + "id": "HP:0001943", + "label": "Hypoglycemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609197", + "label": "Glucocorticoid deficiency 3" + } + } + ], + "metaData": { + "created": "2024-06-11T18:53:41.754092Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glucocorticoid_deficiency_4_with_or_without_mineralocorticoid_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glucocorticoid_deficiency_4_with_or_without_mineralocorticoid_deficiency_patient_1.json new file mode 100644 index 000000000..2fd46b206 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glucocorticoid_deficiency_4_with_or_without_mineralocorticoid_deficiency_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "glucocorticoid_deficiency_4_with_or_without_mineralocorticoid_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001943", + "label": "Hypoglycemia" + } + }, + { + "type": { + "id": "HP:0003154", + "label": "Increased circulating ACTH level" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0008163", + "label": "Decreased circulating cortisol level" + } + }, + { + "type": { + "id": "HP:0008204", + "label": "Precocious puberty with Sertoli cell tumor" + } + }, + { + "type": { + "id": "HP:0012591", + "label": "Abnormal urinary electrolyte concentration" + } + }, + { + "type": { + "id": "HP:0008689", + "label": "Bilateral cryptorchidism" + } + }, + { + "type": { + "id": "HP:0001531", + "label": "Failure to thrive in infancy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614736", + "label": "Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T23:43:34.699208Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glucocorticoid_deficiency_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glucocorticoid_deficiency_5_patient_1.json new file mode 100644 index 000000000..e22660326 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glucocorticoid_deficiency_5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "glucocorticoid_deficiency_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000953", + "label": "Hyperpigmentation of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617825", + "label": "Glucocorticoid deficiency 5" + } + } + ], + "metaData": { + "created": "2024-06-11T23:25:05.200203Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glucocorticoid_resistance_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glucocorticoid_resistance_patient_1.json new file mode 100644 index 000000000..6d12854a1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glucocorticoid_resistance_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "glucocorticoid_resistance", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011744", + "label": "Secondary hypercortisolism" + } + }, + { + "type": { + "id": "HP:0030347", + "label": "Abnormal circulating androgen level" + } + }, + { + "type": { + "id": "HP:0009747", + "label": "Lumbosacral hirsutism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615962", + "label": "Glucocorticoid resistance" + } + } + ], + "metaData": { + "created": "2024-06-11T18:03:12.701382Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glucose_galactose_malabsorption_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glucose_galactose_malabsorption_patient_1.json new file mode 100644 index 000000000..db0b06c1e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glucose_galactose_malabsorption_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "glucose/galactose_malabsorption", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003076", + "label": "Glycosuria" + } + }, + { + "type": { + "id": "HP:0030143", + "label": "Hyperactive bowel sounds" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606824", + "label": "Glucose/galactose malabsorption" + } + } + ], + "metaData": { + "created": "2024-06-11T20:54:59.820459Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glut1_deficiency_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glut1_deficiency_syndrome_2_patient_1.json new file mode 100644 index 000000000..2c7706f56 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glut1_deficiency_syndrome_2_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "glut1_deficiency_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001878", + "label": "Hemolytic anemia" + } + }, + { + "type": { + "id": "HP:0100660", + "label": "Dyskinesia" + }, + "modifiers": [ + { + "id": "HP:0025377", + "label": "Triggered by exertion" + } + ] + }, + { + "type": { + "id": "HP:0011972", + "label": "Hypoglycorrhachia" + } + }, + { + "type": { + "id": "HP:0002490", + "label": "Increased CSF lactate" + } + }, + { + "type": { + "id": "HP:0001337", + "label": "Tremor" + } + }, + { + "type": { + "id": "HP:0001266", + "label": "Choreoathetosis" + } + }, + { + "type": { + "id": "HP:0001923", + "label": "Reticulocytosis" + } + }, + { + "type": { + "id": "HP:0020181", + "label": "Reduced haptoglobin level" + } + }, + { + "type": { + "id": "HP:0001433", + "label": "Hepatosplenomegaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612126", + "label": "Glut1 deficiency syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:07:09.177331Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycine_encephalopathy_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "glycine_encephalopathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0001315", + "label": "Reduced tendon reflexes" + } + }, + { + "type": { + "id": "HP:0033354", + "label": "Abnormal urine metabolite level" + } + }, + { + "type": { + "id": "HP:0031473", + "label": "Hostility" + } + }, + { + "type": { + "id": "HP:0100247", + "label": "Recurrent singultus" + } + }, + { + "type": { + "id": "HP:0006887", + "label": "Intellectual disability, progressive" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605899", + "label": "Glycine encephalopathy" + } + } + ], + "metaData": { + "created": "2024-06-11T19:57:59.212547Z", + "createdBy": "phenotype2phenopacket", + 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"glycine_encephalopathy_with_normal_serum_glycine", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0002804", + "label": "Arthrogryposis multiplex congenita" + } + }, + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + } + }, + { + "type": { + "id": "HP:0002987", + "label": "Elbow flexion contracture" + } + }, + { + "type": { + "id": "HP:0011442", + "label": "Abnormal central motor function" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617301", + "label": "Glycine encephalopathy with normal serum glycine" + } + } + ], + "metaData": { + "created": "2024-06-11T21:50:52.435545Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycinuria_with_or_without_oxalate_urolithiasis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycinuria_with_or_without_oxalate_urolithiasis_patient_1.json new file mode 100644 index 000000000..9484b295e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycinuria_with_or_without_oxalate_urolithiasis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "glycinuria_with_or_without_oxalate_urolithiasis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008672", + "label": "Calcium oxalate nephrolithiasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:138500", + "label": "Glycinuria with or without oxalate urolithiasis" + } + } + ], + "metaData": { + "created": "2024-06-11T18:40:23.893833Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_0_liver_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_0_liver_patient_1.json new file mode 100644 index 000000000..cc4cdc7cd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_0_liver_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "glycogen_storage_disease_0,_liver", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001998", + "label": "Neonatal hypoglycemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:240600", + "label": "Glycogen storage disease 0, liver" + } + } + ], + "metaData": { + "created": "2024-06-11T18:44:26.951096Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_0_muscle_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_0_muscle_patient_1.json new file mode 100644 index 000000000..5572c8770 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_0_muscle_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "glycogen_storage_disease_0,_muscle", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001638", + "label": "Cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0031295", + "label": "Left atrial enlargement" + } + }, + { + "type": { + "id": "HP:0003546", + "label": "Exercise intolerance" + } + }, + { + "type": { + "id": "HP:0001713", + "label": "Abnormal cardiac ventricle morphology" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611556", + "label": "Glycogen storage disease 0, muscle" + } + } + ], + "metaData": { + "created": "2024-06-11T19:49:55.305577Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_III_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_III_patient_1.json new file mode 100644 index 000000000..714dafb98 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_III_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "glycogen_storage_disease_iii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000490", + "label": "Deeply set eye" + } + }, + { + "type": { + "id": "HP:0003077", + "label": "Hyperlipidemia" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0034684", + "label": "Abnormal enzyme concentration or activity" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:232400", + "label": "Glycogen storage disease III" + } + } + ], + "metaData": { + "created": "2024-06-11T21:49:51.885801Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_II_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_II_patient_1.json new file mode 100644 index 000000000..fcd7e29eb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_II_patient_1.json @@ -0,0 +1,195 @@ +{ + "id": "glycogen_storage_disease_ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031056", + "label": "Fusiform cerebral aneurysm" + } + }, + { + "type": { + "id": "HP:0002138", + "label": "Subarachnoid hemorrhage" + } + }, + { + "type": { + "id": "HP:0005425", + "label": "Recurrent sinopulmonary infections" + } + }, + { + "type": { + "id": "HP:0030973", + "label": "Postexertional symptom exacerbation" + } + }, + { + "type": { + "id": "HP:0030235", + "label": "Extremely elevated creatine kinase" + } + }, + { + "type": { + "id": "HP:0040182", + "label": "Inappropriate sinus tachycardia" + } + }, + { + "type": { + "id": "HP:0002103", + "label": "Abnormal 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"phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_IXc_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_IXc_patient_1.json new file mode 100644 index 000000000..8cb280dde --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_IXc_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "glycogen_storage_disease_ixc", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0410042", + "label": "Abnormal liver morphology" + } + }, + { + "type": { + "id": "HP:0006568", + "label": "Increased hepatic glycogen content" + } + }, + { + "type": { + "id": "HP:0012337", + "label": "Abnormal homeostasis" + } + }, + { + "type": { + "id": "HP:0006268", + "label": "Fluctuating splenomegaly" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0012337", + "label": "Abnormal homeostasis" + } + }, + { + "type": { + "id": "HP:0031964", + "label": "Elevated circulating alanine aminotransferase concentration" + } + }, + { + "type": { + "id": "HP:0032988", + "label": "Persistent head lag" + } + }, + { + "type": { + "id": "HP:0001438", + "label": "Abnormal abdomen morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613027", + "label": "Glycogen storage disease IXc" + } + } + ], + "metaData": { + "created": "2024-06-11T20:30:12.166158Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_Ia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_Ia_patient_1.json new file mode 100644 index 000000000..b86b15e15 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_Ia_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "glycogen_storage_disease_ia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001733", + "label": "Pancreatitis" + } + }, + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0001114", + "label": "Xanthelasma" + } + }, + { + "type": { + "id": "HP:0000097", + "label": "Focal segmental glomerulosclerosis" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0001369", + "label": "Arthritis" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0001943", + "label": "Hypoglycemia" + } + }, + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + }, + { + "type": { + "id": "HP:0004897", + "label": "Stress/infection-induced lactic acidosis" + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + }, + { + "type": { + "id": "HP:0000295", + "label": "Doll-like facies" + } + }, + { + "type": { + "id": "HP:0003508", + "label": "Proportionate short stature" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:232200", + "label": "Glycogen storage disease Ia" + } + } + ], + "metaData": { + "created": "2024-06-11T22:30:47.241368Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_Ib_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_Ib_patient_1.json new file mode 100644 index 000000000..52fa6fb24 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_Ib_patient_1.json @@ -0,0 +1,98 @@ +{ + "id": "glycogen_storage_disease_ib", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P6Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0006564", + "label": "Fluctuating hepatomegaly" + } + }, + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_XII_patient_1.json new file mode 100644 index 000000000..170cca23e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_XII_patient_1.json @@ -0,0 +1,158 @@ +{ + "id": "glycogen_storage_disease_xii", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0002904", + "label": "Hyperbilirubinemia" + } + }, + { + "type": { + "id": "HP:0001895", + "label": "Normochromic anemia" + } + }, + { + "type": { + "id": "HP:6000555", + "label": "Decreased erythrocyte fructose-1,6-bisphosphate aldolase activity" + } + }, + { + "type": { + "id": "HP:0025435", + "label": "Increased circulating lactate dehydrogenase concentration" + } + }, + { + "type": { + "id": "HP:0003236", + "label": "Elevated 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diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_XI_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_XI_patient_1.json new file mode 100644 index 000000000..d3d74ba61 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycogen_storage_disease_XI_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "glycogen_storage_disease_xi", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003236", + "label": "Elevated circulating creatine kinase concentration" + } + }, + { + "type": { + "id": "HP:0002151", + "label": "Increased circulating lactate concentration" + } + }, + { + "type": { + "id": "HP:0003326", + "label": "Myalgia" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612933", + "label": "Glycogen storage disease XI" + } + } + ], + "metaData": { + 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} + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycosylphosphatidylinositol_biosynthesis_defect_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycosylphosphatidylinositol_biosynthesis_defect_11_patient_1.json new file mode 100644 index 000000000..d99a540f6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycosylphosphatidylinositol_biosynthesis_defect_11_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "glycosylphosphatidylinositol_biosynthesis_defect_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012736", + "label": "Profound global developmental delay" + } + }, + { + "type": { + "id": "HP:0010804", + "label": "Tented upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0008318", + "label": "Elevated leukocyte alkaline phosphatase" + } + }, + { + "type": { + "id": "HP:0011344", + "label": 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycosylphosphatidylinositol_biosynthesis_defect_16_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycosylphosphatidylinositol_biosynthesis_defect_16_patient_1.json new file mode 100644 index 000000000..04819bb3a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Glycosylphosphatidylinositol_biosynthesis_defect_16_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "glycosylphosphatidylinositol_biosynthesis_defect_16", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031936", + "label": "Delayed ability to walk" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0032662", + "label": "Focal-onset seizure evolving into bilateral 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Gray_platelet_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gray_platelet_syndrome_patient_1.json new file mode 100644 index 000000000..358ae499c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Gray_platelet_syndrome_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "gray_platelet_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008320", + "label": "Impaired collagen-induced platelet aggregation" + } + }, + { + "type": { + "id": "HP:0012147", + "label": "Reduced quantity of Von Willebrand factor" + } + }, + { + "type": { + "id": "HP:0011872", + "label": "Impaired thrombin-induced platelet aggregation" + } + }, + { + "type": { + "id": "HP:0011974", + "label": "Myelofibrosis" + } + }, + { + "type": { + "id": "HP:0012528", + "label": "Abnormal number of alpha granules" + } + }, + { + "type": { + "id": "HP:0008330", + "label": 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+} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Greenberg_skeletal_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Greenberg_skeletal_dysplasia_patient_1.json new file mode 100644 index 000000000..2d0fa236e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Greenberg_skeletal_dysplasia_patient_1.json @@ -0,0 +1,351 @@ +{ + "id": "greenberg_skeletal_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002694", + "label": "Sclerosis of skull base" + } + }, + { + "type": { + "id": "HP:0000476", + "label": "Cystic hygroma" + } + }, + { + "type": { + "id": "HP:0009487", + "label": "Ulnar deviation of the hand" + } + }, + { + "type": { + "id": "HP:0005257", + "label": "Thoracic hypoplasia" + } + }, + { + "type": { + "id": "HP:0005528", + "label": "Bone marrow hypocellularity" + } + }, + { + "type": { + "id": "HP:0000878", + "label": "11 pairs of ribs" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0001790", + "label": "Nonimmune hydrops fetalis" + } + }, + { + "type": { + "id": "HP:0004599", + "label": "Absent or minimally ossified vertebral bodies" + } + }, + { + "type": { + "id": "HP:0030721", + "label": "Tetraphocomelia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + }, + { + "type": { + "id": "HP:0008890", + "label": "Severe short-limb dwarfism" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0000773", + "label": "Short ribs" + } + }, + { + "type": { + "id": "HP:0010880", + "label": "Increased nuchal translucency" + } + }, + { + "type": { + "id": "HP:0000336", + "label": "Prominent supraorbital ridges" + } + }, + { + "type": { + "id": "HP:0001552", + "label": "Barrel-shaped chest" + } + }, + { + "type": { + "id": "HP:0009381", + 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"label": "Greenberg skeletal dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T22:54:15.670472Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Greig_cephalopolysyndactyly_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Greig_cephalopolysyndactyly_syndrome_patient_1.json new file mode 100644 index 000000000..d49221f01 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Greig_cephalopolysyndactyly_syndrome_patient_1.json @@ -0,0 +1,213 @@ +{ + "id": "greig_cephalopolysyndactyly_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001162", + "label": "Postaxial hand polydactyly" + } + }, + { + "type": { + "id": "HP:0001537", + "label": "Umbilical hernia" + } + }, + { + "type": { + "id": "HP:0000348", + "label": "High forehead" + } + }, + { + "type": { + "id": "HP:0000270", + "label": "Delayed cranial suture closure" + } + }, + { + "type": { + "id": "HP:0000268", + "label": "Dolichocephaly" + } + }, + { + "type": { + "id": "HP:0001222", + "label": "Spatulate thumbs" + } + }, + { + "type": { + "id": "HP:0009373", + "label": "Type C brachydactyly" + } + }, + { + "type": { + "id": "HP:0003200", + "label": "Ragged-red muscle fibers" + } + }, + { + "type": { + "id": "HP:0011297", + "label": "Abnormal digit morphology" + } + }, + { + "type": { + "id": 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newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Griscelli_syndrome_type_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Griscelli_syndrome_type_2_patient_1.json new file mode 100644 index 000000000..dc45807c4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Griscelli_syndrome_type_2_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "griscelli_syndrome,_type_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001945", + "label": "Fever" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0002220", + "label": "Melanin pigment aggregation in hair shafts" + } + }, + { + "type": { + "id": "HP:0002218", + "label": "Silver-gray hair" + } + }, + { + "type": { + "id": "HP:0001433", + "label": "Hepatosplenomegaly" + } + }, + { + "type": { + "id": "HP:0001010", + "label": "Hypopigmentation of the skin" + } + }, + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Growth_hormone_deficiency_isolated_type_IA_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "growth_hormone_deficiency,_isolated,_type_ia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001943", + "label": "Hypoglycemia" + } + }, + { + "type": { + "id": "HP:0000457", + "label": "Depressed nasal ridge" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:262400", + "label": "Growth hormone deficiency, isolated, type IA" + } + } + ], + "metaData": { + "created": "2024-06-11T20:25:16.554536Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Growth_hormone_deficiency_isolated_type_IV_patient_1.json new file mode 100644 index 000000000..fc21fb21b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Growth_hormone_deficiency_isolated_type_IV_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "growth_hormone_deficiency,_isolated,_type_iv", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002750", + "label": "Delayed skeletal maturation" + } + }, + { + "type": { + "id": "HP:0030353", + "label": "Decreased serum insulin-like growth factor 1" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618157", + "label": "Growth hormone deficiency, isolated, type IV" + } + } + ], + "metaData": { + "created": "2024-06-11T21:37:45.172776Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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"term": { + "id": "OMIM:604091", + "label": "HDL deficiency, familial, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:49:45.626958Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/HMG_CoA_synthase_2_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/HMG_CoA_synthase_2_deficiency_patient_1.json new file mode 100644 index 000000000..ab7a4c79f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/HMG_CoA_synthase_2_deficiency_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "hmg-coa_synthase-2_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030781", + "label": "Increased circulating free fatty acid level" + } + }, + { + "type": { + "id": "HP:0002013", + "label": "Vomiting" + } + }, + { + "type": { + "id": "HP:0002148", + "label": "Hypophosphatemia" + } + }, + { + "type": { + "id": "HP:0001397", + "label": "Hepatic steatosis" + } + }, + { + "type": { + "id": "HP:0012337", + "label": "Abnormal homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605911", + "label": "HMG-CoA synthase-2 deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T19:24:33.994799Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/HOMOCARNOSINOSIS_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/HOMOCARNOSINOSIS_patient_1.json new file mode 100644 index 000000000..c6e5f34d1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/HOMOCARNOSINOSIS_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "homocarnosinosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001258", + "label": "Spastic paraplegia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:236130", + "label": "HOMOCARNOSINOSIS" + } + } + ], + "metaData": { + "created": "2024-06-11T20:38:36.158276Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/HSD10_mitochondrial_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/HSD10_mitochondrial_disease_patient_1.json new file mode 100644 index 000000000..b17253e39 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/HSD10_mitochondrial_disease_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "hsd10_mitochondrial_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001639", + "label": "Hypertrophic cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0007272", + "label": "Progressive psychomotor deterioration" + } + }, + { + "type": { + "id": "HP:0004354", + "label": "Abnormal circulating carboxylic acid concentration" + } + }, + { + "type": { + "id": "HP:0001941", + "label": "Acidosis" + } + }, + { + "type": { + "id": "HP:0006863", + "label": "Severe expressive language delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300438", + "label": "HSD10 mitochondrial disease" + } + } + ], + "metaData": { + "created": "2024-06-11T22:43:12.307344Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/HYDROXYPROLINEMIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/HYDROXYPROLINEMIA_patient_1.json new file mode 100644 index 000000000..bce372822 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/HYDROXYPROLINEMIA_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hydroxyprolinemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:237000", + "label": "HYDROXYPROLINEMIA" + } + } + ], + "metaData": { + "created": "2024-06-11T19:50:03.562746Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/HYPERHEPARINEMIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/HYPERHEPARINEMIA_patient_1.json new file mode 100644 index 000000000..447e3748f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/HYPERHEPARINEMIA_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hyperheparinemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:144050", + "label": "HYPERHEPARINEMIA" + } + } + ], + "metaData": { + "created": "2024-06-11T20:42:44.571723Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/HYPERLEUCINE_ISOLEUCINEMIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/HYPERLEUCINE_ISOLEUCINEMIA_patient_1.json new file mode 100644 index 000000000..2e0f72fc4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/HYPERLEUCINE_ISOLEUCINEMIA_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "hyperleucine-isoleucinemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001939", + "label": "Abnormality of metabolism/homeostasis" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:238340", + "label": "HYPERLEUCINE-ISOLEUCINEMIA" + } + } + ], + "metaData": { + "created": "2024-06-11T18:53:07.657723Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/HYPERLEXIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/HYPERLEXIA_patient_1.json new file mode 100644 index 000000000..9acd62343 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/HYPERLEXIA_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hyperlexia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000717", + "label": "Autism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:238350", + "label": "HYPERLEXIA" + } + } + ], + "metaData": { + "created": "2024-06-11T18:12:33.339218Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/HYPOASCORBEMIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/HYPOASCORBEMIA_patient_1.json new file mode 100644 index 000000000..1309c7c27 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/HYPOASCORBEMIA_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hypoascorbemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001939", + "label": "Abnormality of metabolism/homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:240400", + "label": "HYPOASCORBEMIA" + } + } + ], + "metaData": { + "created": "2024-06-11T19:06:28.318378Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/HYPOGLOSSIA_HYPODACTYLIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/HYPOGLOSSIA_HYPODACTYLIA_patient_1.json new file mode 100644 index 000000000..72617c737 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/HYPOGLOSSIA_HYPODACTYLIA_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hypoglossia-hypodactylia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001171", + "label": "Split hand" + } + }, + { + "type": { + "id": "HP:0031770", + "label": "Epicanthus palpebralis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:103300", + "label": "HYPOGLOSSIA-HYPODACTYLIA" + } + } + ], + "metaData": { + "created": "2024-06-11T21:29:59.740814Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hadziselimovic_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hadziselimovic_syndrome_patient_1.json new file mode 100644 index 000000000..f89772b91 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hadziselimovic_syndrome_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "hadziselimovic_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0000286", + "label": "Epicanthus" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0001620", + "label": "High pitched voice" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0010938", + "label": "Abnormal external nose morphology" + } + }, + { + "type": { + "id": "HP:0001667", + "label": "Right ventricular hypertrophy" + } + }, + { + "type": { + "id": "HP:0003808", + "label": "Abnormal muscle tone" + } + }, + { + "type": { + "id": "HP:0005832", + "label": "Dysharmonic delayed bone age" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612946", + "label": "Hadziselimovic syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:17:32.095243Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Haim_Munk_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Haim_Munk_syndrome_patient_1.json new file mode 100644 index 000000000..442572566 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Haim_Munk_syndrome_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "haim-munk_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009771", + "label": "Osteolytic defects of the phalanges of the hand" + } + }, + { + "type": { + "id": "HP:0006224", + "label": "Tapering pointed ends of distal finger phalanges" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:245010", + "label": "Haim-Munk syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:53:14.137763Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hair_defect_with_photosensitivity_and_mental_retardation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hair_defect_with_photosensitivity_and_mental_retardation_patient_1.json new file mode 100644 index 000000000..0947f316c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hair_defect_with_photosensitivity_and_mental_retardation_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "hair_defect_with_photosensitivity_and_mental_retardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + }, + { + "type": { + "id": "HP:0002208", + "label": "Coarse hair" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0040050", + "label": "Sparse upper eyelashes" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:234030", + "label": "Hair defect with photosensitivity and mental retardation" + } + } + ], + "metaData": { + "created": "2024-06-11T18:08:14.663796Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hairy_elbows_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hairy_elbows_patient_1.json new file mode 100644 index 000000000..cd4b4f9c1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hairy_elbows_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hairy_elbows", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004780", + "label": "Elbow hypertrichosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:139600", + "label": "Hairy elbows" + } + } + ], + "metaData": { + "created": "2024-06-12T00:50:33.877567Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hairy_nose_tip_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hairy_nose_tip_patient_1.json new file mode 100644 index 000000000..002a8a314 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hairy_nose_tip_patient_1.json @@ 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hairy_palms_and_soles_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hairy_palms_and_soles_patient_1.json new file mode 100644 index 000000000..ff2399681 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hairy_palms_and_soles_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hairy_palms_and_soles", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001034", + "label": "Hypermelanotic macule" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:139650", + "label": "Hairy palms and soles" + } + } + ], + "metaData": { + "created": "2024-06-11T19:55:55.282101Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hallermann_Streiff_syndrome_patient_1.json @@ -0,0 +1,321 @@ +{ + "id": "hallermann-streiff_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002705", + "label": "High, narrow palate" + } + }, + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + } + }, + { + "type": { + "id": "HP:0002779", + "label": "Tracheomalacia" + } + }, + { + "type": { + "id": "HP:0010539", + "label": "Thin calvarium" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0002870", + "label": "Obstructive sleep apnea" + } + }, + { + "type": { + "id": "HP:0000233", + "label": "Thin vermilion border" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0003307", + "label": "Hyperlordosis" + } + }, + { + "type": { + "id": "HP:0000189", + "label": "Narrow palate" + } + }, 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hallux_varus_and_preaxial_polysyndactyly_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hallux_varus_and_preaxial_polysyndactyly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001159", + "label": "Syndactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:234280", + "label": "Hallux varus and preaxial polysyndactyly" + } + } + ], + "metaData": { + "created": "2024-06-11T20:34:51.713950Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hashimoto_thyroiditis_patient_1.json new file mode 100644 index 000000000..106f463b1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hashimoto_thyroiditis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hashimoto_thyroiditis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030057", + "label": "Autoimmune antibody positivity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:140300", + "label": "Hashimoto thyroiditis" + } + } + ], + "metaData": { + "created": "2024-06-12T00:31:53.367107Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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"HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0001047", + "label": "Atopic dermatitis" + } + }, + { + "type": { + "id": "HP:0003508", + "label": "Proportionate short stature" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0005353", + "label": "Recurrent herpes" + } + }, + { + "type": { + "id": "HP:0002719", + "label": "Recurrent infections" + } + }, + { + "type": { + "id": "HP:0000967", + "label": "Petechiae" + } + }, + { + "type": { + "id": "HP:0002937", + "label": "Hemivertebrae" + } + }, + { + "type": { + "id": "HP:0001328", + "label": "Specific learning disability" + } + }, + { + "type": { + "id": "HP:0002837", + "label": "Recurrent bronchitis" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + }, + { + "type": { + "id": "HP:0032231", + "label": "Hypochromia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620331", + "label": "Hatipoglu immunodeficiency syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:52:31.327137Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hawkinsinuria_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hawkinsinuria_patient_1.json new file mode 100644 index 000000000..d820ae0b4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hawkinsinuria_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "hawkinsinuria", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034457", + "label": "Hawkinsinuria" + } + }, + { + "type": { + "id": "HP:0003607", + "label": "4-hydroxyphenylacetic aciduria" + } + }, + { + "type": { + "id": "HP:0008070", + "label": "Sparse hair" + } + }, + { + "type": { + "id": "HP:0003161", + "label": "4-Hydroxyphenylpyruvic aciduria" + } + }, + { + "type": { + "id": "HP:0012452", + "label": "Restless legs" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:140350", + "label": "Hawkinsinuria" + } + } + ], + "metaData": { + "created": "2024-06-11T19:54:27.434135Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hay_Wells_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hay_Wells_syndrome_patient_1.json new file mode 100644 index 000000000..7524e9eb8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hay_Wells_syndrome_patient_1.json @@ -0,0 +1,189 @@ +{ + "id": "hay-wells_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000653", + "label": "Sparse eyelashes" + } + }, + { + "type": { + "id": "HP:0008404", + "label": "Nail dystrophy" + } + }, + { + "type": { + "id": "HP:0000668", + "label": "Hypodontia" + } + }, + { + "type": { + "id": "HP:0011065", + "label": "Conical incisor" + } + }, + { + "type": { + "id": "HP:0011055", + "label": "Agenesis of permanent molar" + } + }, + { + "type": { + "id": "HP:0000707", + "label": "Abnormality of the nervous system" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0100337", + "label": "Bilateral cleft palate" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + }, + { + "type": { + "id": "HP:0200138", + "label": "Bilateral choanal atresia/stenosis" + } + }, + { + "type": { + "id": "HP:0000962", + "label": "Hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0011968", + "label": 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"HP:0410218", + "label": "Hypoplasia of maxilla relative to mandible" + } + }, + { + "type": { + "id": "HP:0007717", + "label": "Chronic irritative conjunctivitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:106260", + "label": "Hay-Wells syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:18:04.802995Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Heart_and_brain_malformation_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heart_and_brain_malformation_syndrome_patient_1.json new file mode 100644 index 000000000..0f65c03a7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heart_and_brain_malformation_syndrome_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "heart_and_brain_malformation_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008936", + "label": "Axial hypotonia" + } + }, + { + "type": { + "id": "HP:0005487", + "label": "Prominent metopic ridge" + } + }, + { + "type": { + "id": "HP:0001188", + "label": "Hand clenching" + } + }, + { + "type": { + "id": "HP:0000179", + "label": "Thick lower lip vermilion" + } + }, + { + "type": { + "id": "HP:0002705", + "label": "High, narrow palate" + } + }, + { + "type": { + "id": "HP:0001305", + "label": "Dandy-Walker 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"heart-hand_syndrome,_slovenian_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001644", + "label": "Dilated cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0040019", + "label": "Finger clinodactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610140", + "label": "Heart-hand syndrome, Slovenian type" + } + } + ], + "metaData": { + "created": "2024-06-11T23:51:12.521362Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Heart_hand_syndrome_Spanish_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heart_hand_syndrome_Spanish_type_patient_1.json new file mode 100644 index 000000000..36d5da474 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heart_hand_syndrome_Spanish_type_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "heart-hand_syndrome,_spanish_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + }, + { + "type": { + "id": "HP:0011297", + "label": "Abnormal digit morphology" + } + }, + { + "type": { + "id": "HP:0011704", + "label": "Sick sinus syndrome" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:140450", + "label": "Heart-hand syndrome, Spanish type" + } + } + ], + "metaData": { + "created": "2024-06-11T18:39:26.108505Z", + "createdBy": 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"patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004383", + "label": "Hypoplastic left heart" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:140500", + "label": "Heart, malformation of" + } + } + ], + "metaData": { + "created": "2024-06-11T23:10:55.614204Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Heimler_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heimler_syndrome_1_patient_1.json new file mode 100644 index 000000000..15207a778 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heimler_syndrome_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "heimler_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006297", + "label": "Enamel hypoplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:234580", + "label": "Heimler syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:26:15.285258Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Heimler_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heimler_syndrome_2_patient_1.json new file mode 100644 index 000000000..e323ce729 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heimler_syndrome_2_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "heimler_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0041093", + "label": "Beau's lines" + } + }, + { + "type": { + "id": "HP:0000682", + "label": "Abnormal dental enamel morphology" + } + }, + { + "type": { + "id": "HP:0008610", + "label": "Infantile sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0001820", + "label": "Leukonychia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616617", + "label": "Heimler syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:37:11.940642Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Heinz_body_anemias_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heinz_body_anemias_patient_1.json new file mode 100644 index 000000000..956989ab0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heinz_body_anemias_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "heinz_body_anemias", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001930", + "label": "Nonspherocytic hemolytic anemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:140700", + "label": "Heinz body anemias" + } + } + ], + "metaData": { + "created": "2024-06-11T23:06:07.158811Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Helicobacter_pylori_infection_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Helicobacter_pylori_infection_susceptibility_to_patient_1.json new file mode 100644 index 000000000..2812f6781 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Helicobacter_pylori_infection_susceptibility_to_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "helicobacter_pylori_infection,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005202", + "label": "Helicobacter pylori infection" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600263", + "label": "Helicobacter pylori infection, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T19:39:50.797678Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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[ + { + "type": { + "id": "HP:0001959", + "label": "Polydipsia" + } + }, + { + "type": { + "id": "HP:0002918", + "label": "Hypermagnesemia" + } + }, + { + "type": { + "id": "HP:0000217", + "label": "Xerostomia" + } + }, + { + "type": { + "id": "HP:0011770", + "label": "Tertiary hyperparathyroidism" + } + }, + { + "type": { + "id": "HP:0002046", + "label": "Heat intolerance" + } + }, + { + "type": { + "id": "HP:0034012", + "label": "Palmoplantar hypohidrosis" + } + }, + { + "type": { + "id": "HP:0012726", + "label": "Episodic hypokalemia" + } + }, + { + "type": { + "id": "HP:0000970", + "label": "Anhidrosis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000103", + "label": "Polyuria" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + } + ], + "diseases": [ + { + "term": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Helsmoortel_van_der_Aa_syndrome_patient_1.json @@ -0,0 +1,339 @@ +{ + "id": "helsmoortel-van_der_aa_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0000687", + "label": "Widely spaced teeth" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0000358", + "label": "Posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0000717", + "label": "Autism" + } + }, + { + "type": { + "id": "HP:0000179", + "label": "Thick lower lip vermilion" + } + }, + { + "type": { + "id": "HP:0002857", + "label": "Genu valgum" + } + }, + { + "type": { + "id": "HP:0002020", + "label": "Gastroesophageal reflux" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0000463", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemangioma_capillary_infantile_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hemangioma,_capillary_infantile", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005306", + "label": "Capillary hemangioma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602089", + "label": "Hemangioma, capillary infantile" + } + } + ], + "metaData": { + "created": "2024-06-11T20:38:09.776393Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemangiomas_cavernous_of_face_and_supraumbilical_midline_raphe_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemangiomas_cavernous_of_face_and_supraumbilical_midline_raphe_patient_1.json new file mode 100644 index 000000000..d5791021d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemangiomas_cavernous_of_face_and_supraumbilical_midline_raphe_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hemangiomas,_cavernous,_of_face_and_supraumbilical_midline_raphe", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010309", + "label": "Bifid sternum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:140850", + "label": "Hemangiomas, cavernous, of face and supraumbilical midline raphe" + } + } + ], + "metaData": { + "created": "2024-06-11T23:19:35.300544Z", + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemangiopericytoma_malignant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemangiopericytoma_malignant_patient_1.json new file mode 100644 index 000000000..4f8e694c1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemangiopericytoma_malignant_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hemangiopericytoma,_malignant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001626", + "label": "Abnormality of the cardiovascular system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:234820", + "label": "Hemangiopericytoma, malignant" + } + } + ], + "metaData": { + "created": "2024-06-12T01:24:20.222059Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hematuria_benign_familial_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hematuria_benign_familial_2_patient_1.json new file mode 100644 index 000000000..b45b0a33f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hematuria_benign_familial_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hematuria,_benign_familial,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002907", + "label": "Microscopic hematuria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620320", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hematuria_benign_familial_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hematuria,_benign_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000790", + "label": "Hematuria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:141200", + "label": "Hematuria, benign familial" + } + } + ], + "metaData": { + "created": "2024-06-11T19:13:52.881642Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Heme_oxygenase_1_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heme_oxygenase_1_deficiency_patient_1.json new file mode 100644 index 000000000..fd617e061 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heme_oxygenase_1_deficiency_patient_1.json @@ -0,0 +1,98 @@ +{ + "id": "heme_oxygenase-1_deficiency", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000421", + "label": "Epistaxis" + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + }, + { + "type": { + "id": "HP:0006564", + "label": "Fluctuating hepatomegaly" + } + }, + { + "type": { + "id": "HP:0100735", + "label": "Hypertensive crisis" + } + }, + { + "type": { + "id": "HP:0012375", + "label": "Chemosis" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0002733", + "label": "Abnormal lymph node morphology" + } + }, + { + "type": { + "id": "HP:0005525", + "label": "Spontaneous hemolytic crises" + } + }, + { + "type": { + "id": "HP:0100806", + "label": "Sepsis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614034", + "label": "Heme oxygenase-1 deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T21:11:40.974588Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemifacial_atrophy_progressive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemifacial_atrophy_progressive_patient_1.json new file mode 100644 index 000000000..9a247e4e5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemifacial_atrophy_progressive_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "hemifacial_atrophy,_progressive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011331", + "label": "Hemifacial atrophy" + } + }, + { + "type": { + "id": "HP:0002290", + "label": "Poliosis" + } + }, + { + "type": { + "id": "HP:0002808", + "label": "Kyphosis" + } + }, + { + "type": { + "id": "HP:0012473", + "label": "Tongue atrophy" + } + }, + { + "type": { + "id": "HP:0020035", + "label": "Lower limb dysmetria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:141300", + "label": "Hemifacial atrophy, progressive" + } + } + ], + "metaData": { + "created": "2024-06-11T20:38:27.133909Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemifacial_hyperplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemifacial_hyperplasia_patient_1.json new file mode 100644 index 000000000..a03870bbe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemifacial_hyperplasia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hemifacial_hyperplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000327", + "label": "Hypoplasia of the maxilla" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:133900", + "label": "Hemifacial hyperplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:31:36.514714Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemifacial_hyperplasia_with_strabismus_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemifacial_hyperplasia_with_strabismus_patient_1.json new file mode 100644 index 000000000..12fbf7d2e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemifacial_hyperplasia_with_strabismus_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hemifacial_hyperplasia_with_strabismus", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000646", + "label": "Amblyopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:141350", + "label": "Hemifacial hyperplasia with strabismus" + } + } + ], + "metaData": { + "created": "2024-06-11T23:06:19.644923Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemifacial_microsomia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemifacial_microsomia_patient_1.json new file mode 100644 index 000000000..e33fc3c81 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemifacial_microsomia_patient_1.json @@ -0,0 +1,171 @@ +{ + "id": "hemifacial_microsomia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000384", + "label": "Preauricular skin tag" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0000327", + "label": "Hypoplasia of the maxilla" + } + }, + { + "type": { + "id": "HP:0000104", + "label": "Renal agenesis" + } + }, + { + "type": { + "id": "HP:0004660", + "label": "Hypoplasia of facial musculature" + } + }, + { + "type": { + "id": "HP:0009892", + "label": "Anotia" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0000074", + "label": "Ureteropelvic junction obstruction" + } + }, + { + "type": { + "id": "HP:0000636", + "label": "Upper eyelid coloboma" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0011342", + "label": "Mild global developmental delay" + } + }, + { + "type": { + "id": "HP:0009944", + "label": "Partial duplication of thumb phalanx" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": 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"hemifacial_microsomia_with_radial_defects", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000384", + "label": "Preauricular skin tag" + } + }, + { + "type": { + "id": "HP:0000324", + "label": "Facial asymmetry" + } + }, + { + "type": { + "id": "HP:0040102", + "label": "Osseous atresia of the external auditory canal" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:141400", + "label": "Hemifacial microsomia with radial defects" + } + } + ], + "metaData": { + "created": "2024-06-11T18:32:05.362131Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemifacial_spasm_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemifacial_spasm_familial_patient_1.json new file mode 100644 index 000000000..883fb9785 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemifacial_spasm_familial_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hemifacial_spasm,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010828", + "label": "Hemifacial spasm" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:141405", + "label": "Hemifacial spasm, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T18:55:04.096714Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + 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"Nephroblastoma" + } + }, + { + "type": { + "id": "HP:0410043", + "label": "Abnormal neural tube morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:235000", + "label": "Hemihyperplasia, isolated" + } + } + ], + "metaData": { + "created": "2024-06-11T20:21:17.179841Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemochromatosis_neonatal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemochromatosis_neonatal_patient_1.json new file mode 100644 index 000000000..2bf58ffbe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemochromatosis_neonatal_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "hemochromatosis,_neonatal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001396", + "label": "Cholestasis" + } + }, + { + "type": { + "id": "HP:0001395", + "label": "Hepatic fibrosis" + } + }, + { + "type": { + "id": "HP:0003452", + "label": "Increased circulating iron concentration" + } + }, + { + "type": { + "id": "HP:0003281", + "label": "Increased circulating ferritin concentration" + } + }, + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + }, + { + "type": { + "id": "HP:0001404", + "label": "Hepatocellular necrosis" + } + }, + { + "type": { + "id": "HP:0001562", + "label": "Oligohydramnios" + } + }, + { + "type": { + "id": "HP:0004914", + "label": "Recurrent infantile hypoglycemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:231100", + "label": "Hemochromatosis, neonatal" + } + } + ], + "metaData": { + "created": "2024-06-11T20:11:35.356904Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemochromatosis_type_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemochromatosis_type_1_patient_1.json new file mode 100644 index 000000000..82a37c238 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemochromatosis_type_1_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "hemochromatosis,_type_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001640", + "label": "Cardiomegaly" + } + }, + { + "type": { + "id": "HP:0001394", + "label": "Cirrhosis" + } + }, + { + "type": { + "id": "HP:0001722", + "label": "High-output congestive heart failure" + } + }, + { + "type": { + "id": "HP:0012874", + "label": "Abnormal male reproductive system physiology" + } + }, + { + "type": { + "id": "HP:0000141", + "label": "Amenorrhea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:235200", + "label": "Hemochromatosis, type 1" + } + } + ], + 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-0,0 +1,63 @@ +{ + "id": "hemochromatosis,_type_2a", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000953", + "label": "Hyperpigmentation of the skin" + } + }, + { + "type": { + "id": "HP:0003452", + "label": "Increased circulating iron concentration" + } + }, + { + "type": { + "id": "HP:0000869", + "label": "Secondary amenorrhea" + } + }, + { + "type": { + "id": "HP:0033331", + "label": "Acute phase response" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602390", + "label": "Hemochromatosis, type 2A" + } + } + ], + "metaData": { + "created": "2024-06-11T23:22:03.143514Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemochromatosis_type_2B_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemochromatosis_type_2B_patient_1.json new file mode 100644 index 000000000..c54b2d03b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemochromatosis_type_2B_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "hemochromatosis,_type_2b", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P36Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0001395", + "label": "Hepatic fibrosis" + } + }, + { + "type": { + "id": "HP:0008150", + "label": "Elevated serum transaminases 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000000000..7ad3c7902 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemochromatosis_type_3_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "hemochromatosis,_type_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003281", + "label": "Increased circulating ferritin concentration" + } + }, + { + "type": { + "id": "HP:0000141", + "label": "Amenorrhea" + } + }, + { + "type": { + "id": "HP:0001367", + "label": "Abnormal joint morphology" + } + }, + { + "type": { + "id": "HP:0040307", + "label": "Male sexual dysfunction" + } + }, + { + "type": { + "id": "HP:0011895", + "label": "Anemia due to reduced life span of red cells" + } + }, + { + "type": { + "id": "HP:0410252", + "label": "Chronic neutropenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604250", + "label": "Hemochromatosis, type 3" + } + } + ], + "metaData": { + "created": "2024-06-11T22:50:51.267686Z", + "createdBy": "phenotype2phenopacket", + 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"term": { + "id": "OMIM:615517", + "label": "Hemochromatosis, type 5" + } + } + ], + "metaData": { + "created": "2024-06-11T22:14:41.099885Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemoglobin_Delta_locus_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemoglobin_Delta_locus_patient_1.json new file mode 100644 index 000000000..ed2344953 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemoglobin_Delta_locus_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hemoglobin-delta_locus", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:142000", + "label": "Hemoglobin-Delta locus" + } + } + ], + "metaData": { + "created": "2024-06-11T21:16:45.341411Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemoglobin_H_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemoglobin_H_disease_patient_1.json new file mode 100644 index 000000000..97abcec62 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemoglobin_H_disease_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "hemoglobin_h_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001878", + "label": "Hemolytic anemia" + } + }, + { + "type": { + "id": "HP:0011907", + "label": "Reduced alpha/beta synthesis ratio" + } + }, + { + "type": { + "id": "HP:0001433", + "label": "Hepatosplenomegaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613978", + "label": "Hemoglobin H disease" + } + } + ], + "metaData": { + "created": "2024-06-11T22:30:14.149438Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemoglobin_Variants_for_which_the_chain_carrying_the_mutation_isunknown_or_uncertain_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hemoglobin-variants_for_which_the_chain_carrying_the_mutation_isunknown_or_uncertain", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004863", + "label": "Compensated hemolytic anemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:142309", + "label": "Hemoglobin-Variants for which the chain carrying the mutation isunknown or uncertain" + } + } + ], + "metaData": { + "created": "2024-06-11T17:45:31.478450Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance 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+ }, + { + "type": { + "id": "HP:0004312", + "label": "Abnormal reticulocyte morphology" + } + }, + { + "type": { + "id": "HP:0006579", + "label": "Prolonged neonatal jaundice" + } + }, + { + "type": { + "id": "HP:0001881", + "label": "Abnormal leukocyte morphology" + } + }, + { + "type": { + "id": "HP:0001005", + "label": "Dermatological manifestations of systemic disorders" + }, + "modifiers": [ + { + "id": "HP:0034060", + "label": "Triggered by fava bean ingestion" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300908", + "label": "Hemolytic anemia, G6PD deficient (favism)" + } + } + ], + "metaData": { + "created": "2024-06-11T21:43:16.173574Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_anemia_congenital_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_anemia_congenital_X_linked_patient_1.json new file mode 100644 index 000000000..2aa51152d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_anemia_congenital_X_linked_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "hemolytic_anemia,_congenital,_x-linked", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P4Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000952", + "label": "Jaundice" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301015", + "label": 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_anemia_due_to_elevated_adenosine_deaminase_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hemolytic_anemia_due_to_elevated_adenosine_deaminase", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002904", + "label": "Hyperbilirubinemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301083", + "label": "Hemolytic anemia due to elevated adenosine deaminase" + } + } + ], + "metaData": { + "created": "2024-06-11T22:41:54.699395Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_anemia_due_to_gamma_glutamylcysteine_synthetase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_anemia_due_to_gamma_glutamylcysteine_synthetase_deficiency_patient_1.json new file mode 100644 index 000000000..a145ccdce --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_anemia_due_to_gamma_glutamylcysteine_synthetase_deficiency_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "hemolytic_anemia_due_to_gamma-glutamylcysteine_synthetase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:6000132", + "label": "Reduced erythrocyte gamma-glutamyl cysteine synthetase activity" + } + }, + { + "type": { + "id": "HP:0025435", + "label": "Increased circulating lactate dehydrogenase concentration" + } + }, + { + "type": { + "id": "HP:0005535", + "label": "Exercise-induced hemolysis" + } + }, + { + "type": { + "id": "HP:0004312", + "label": "Abnormal reticulocyte morphology" + } + }, + { + "type": { + "id": "HP:0006904", + "label": "Late-onset spinocerebellar degeneration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:230450", + "label": "Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T17:58:51.439091Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_anemia_due_to_glutathione_reductase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_anemia_due_to_glutathione_reductase_deficiency_patient_1.json new file mode 100644 index 000000000..b9a1c99ba --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_anemia_due_to_glutathione_reductase_deficiency_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "hemolytic_anemia_due_to_glutathione_reductase_deficiency", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P45Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:6000525", + "label": "Reduced erythrocyte glutathione reductase activity" + } + }, + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618660", + "label": "Hemolytic anemia due to glutathione reductase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T19:14:36.809910Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_anemia_due_to_glutathione_synthetase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_anemia_due_to_glutathione_synthetase_deficiency_patient_1.json new file mode 100644 index 000000000..55b66f8d6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_anemia_due_to_glutathione_synthetase_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hemolytic_anemia_due_to_glutathione_synthetase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0410132", + "label": "Increased level of L-pyroglutamic acid in urine" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:231900", + "label": "Hemolytic anemia due to glutathione synthetase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:41.401315Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_anemia_nonspherocytic_due_to_glucose_phosphate_isomerasedeficiency_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "hemolytic_anemia,_nonspherocytic,_due_to_glucose_phosphate_isomerasedeficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001324", + "label": "Muscle weakness" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0012438", + "label": "Abnormal gallbladder physiology" + } + }, + { + "type": { + "id": "HP:0012437", + "label": "Abnormal gallbladder morphology" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613470", + "label": "Hemolytic anemia, nonspherocytic, due to glucose phosphate 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_anemia_nonspherocytic_due_to_hexokinase_deficiency_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "hemolytic_anemia,_nonspherocytic,_due_to_hexokinase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011980", + "label": "Cholesterol gallstones" + } + }, + { + "type": { + "id": "HP:0001046", + "label": "Intermittent jaundice" + } + }, + { + "type": { + "id": "HP:6000559", + "label": "Reduced erythrocyte hexokinase activity" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:235700", + "label": "Hemolytic anemia, nonspherocytic, due to hexokinase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T18:14:26.290123Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004804", + "label": "Congenital hemolytic anemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:235370", + "label": "Hemolytic anemia with thermal sensitivity of red cells" + } + } + ], + "metaData": { + "created": "2024-06-11T19:23:47.962714Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_disease_of_fetus_and_newborn_RH_induced_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_disease_of_fetus_and_newborn_RH_induced_patient_1.json new file mode 100644 index 000000000..6147b9849 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_disease_of_fetus_and_newborn_RH_induced_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hemolytic_disease_of_fetus_and_newborn,_rh-induced", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001789", + "label": "Hydrops fetalis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619462", + "label": "Hemolytic disease of fetus and newborn, RH-induced" + } + } + ], + "metaData": { + "created": "2024-06-11T21:52:02.752828Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"hemolytic_uremic_syndrome,_atypical,_8,_with_rhizomelic_short_stature", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003259", + "label": "Elevated circulating creatinine concentration" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0002719", + "label": "Recurrent infections" + } + }, + { + "type": { + "id": "HP:0001875", + "label": "Neutropenia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0001878", + "label": "Hemolytic anemia" + } + }, + { + "type": { + "id": "HP:0020181", + "label": "Reduced haptoglobin level" + } + }, + { + "type": { + "id": "HP:0000348", + "label": "High forehead" + } + }, + { + "type": { + "id": "HP:0012211", + "label": "Abnormal renal physiology" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301110", + "label": "Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature" + } + } + ], + "metaData": { + "created": "2024-06-11T19:09:26.307770Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_uremic_syndrome_atypical_susceptibility_to_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_uremic_syndrome_atypical_susceptibility_to_1_patient_1.json new file mode 100644 index 000000000..8646e97a6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_uremic_syndrome_atypical_susceptibility_to_1_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0001919", + "label": "Acute kidney injury" + } + }, + { + "type": { + "id": "HP:0003138", + "label": "Increased blood urea nitrogen" + } + }, + { + "type": { + "id": "HP:0005369", + "label": "Decreased circulating complement factor H concentration" + } + }, + { + "type": { + "id": "HP:0001923", + "label": "Reticulocytosis" + } + }, + { + "type": { + "id": "HP:0003077", + "label": "Hyperlipidemia" + } + }, + { + "type": { 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_uremic_syndrome_atypical_susceptibility_to_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_uremic_syndrome_atypical_susceptibility_to_2_patient_1.json new file mode 100644 index 000000000..40fdcebd8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_uremic_syndrome_atypical_susceptibility_to_2_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "hemolytic_uremic_syndrome,_atypical,_susceptibility_to,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005575", + "label": "Hemolytic-uremic syndrome" + } + }, + { + "type": { + "id": "HP:0000083", + "label": "Renal insufficiency" + } + }, + { + "type": { + "id": "HP:0011875", + "label": "Abnormal platelet morphology" + } + }, + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0012587", + "label": "Macroscopic hematuria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612922", + "label": "Hemolytic uremic syndrome, atypical, susceptibility to, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:52:30.384049Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemolytic_uremic_syndrome_atypical_susceptibility_to_3_patient_1.json 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} +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemophilia_B_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemophilia_B_patient_1.json new file mode 100644 index 000000000..b980ac627 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hemophilia_B_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "hemophilia_b", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002758", + "label": "Osteoarthritis" + } + }, + { + "type": { + "id": "HP:0011858", + "label": "Reduced factor IX activity" + } + }, + { + "type": { + "id": "HP:0000978", + "label": "Bruising susceptibility" + } + }, + { + "type": { + "id": "HP:0001934", + "label": "Persistent bleeding after trauma" + } + }, + { + "type": { + "id": "HP:0002249", + "label": "Melena" + } + }, + { + "type": { + "id": "HP:0005261", + "label": "Joint hemorrhage" + } + }, + { + "type": { + "id": "HP:0003645", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hermansky_Pudlak_syndrome_9_patient_1.json new file mode 100644 index 000000000..5b26f4415 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hermansky_Pudlak_syndrome_9_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "hermansky-pudlak_syndrome_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0001905", + "label": "Congenital thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0007859", + "label": "Congenital horizontal nystagmus" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0001882", + "label": "Leukopenia" + } + }, + { + "type": { + "id": "HP:0011371", + "label": "Recurrent viral skin infections" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614171", + "label": "Hermansky-Pudlak 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hernia_anterior_diaphragmatic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hernia,_anterior_diaphragmatic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000776", + "label": "Congenital diaphragmatic hernia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:306950", + "label": "Hernia, anterior diaphragmatic" + } + } + ], + "metaData": { + "created": "2024-06-11T22:14:47.197236Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hernia_double_inguinal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hernia_double_inguinal_patient_1.json new file mode 100644 index 000000000..97df07916 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hernia_double_inguinal_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hernia,_double_inguinal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000023", + "label": "Inguinal hernia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:142350", + "label": "Hernia, double inguinal" + } + } + ], + "metaData": { + "created": "2024-06-11T20:18:14.642514Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heterotaxy_visceral_10_autosomal_with_male_infertility_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "heterotaxy,_visceral,_10,_autosomal,_with_male_infertility", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011109", + "label": "Chronic sinusitis" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0032101", + "label": "Unusual infection" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619607", + "label": "Heterotaxy, visceral, 10, autosomal, with male infertility" + } + } + ], + "metaData": { + "created": "2024-06-11T23:26:28.918468Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Heterotaxy_visceral_12_autosomal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heterotaxy_visceral_12_autosomal_patient_1.json new file mode 100644 index 000000000..4ee8b81f3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heterotaxy_visceral_12_autosomal_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "heterotaxy,_visceral,_12,_autosomal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031565", + "label": "Abdominal situs ambiguus" + } + }, + { + "type": { + "id": "HP:0001674", + "label": "Complete atrioventricular canal defect" + } + }, + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal defect" + } + }, + { + "type": { + "id": "HP:0001696", + "label": "Situs inversus totalis" + } + }, + { + "type": { + "id": "HP:0004935", + "label": "Pulmonary artery atresia" + } + }, + { + "type": { + "id": "HP:0011624", + "label": "Apical 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Heterotaxy_visceral_1_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heterotaxy_visceral_1_X_linked_patient_1.json new file mode 100644 index 000000000..657029b69 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heterotaxy_visceral_1_X_linked_patient_1.json @@ -0,0 +1,207 @@ +{ + "id": "heterotaxy,_visceral,_1,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003305", + "label": "Block vertebrae" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0001719", + "label": "Double outlet right ventricle" + } + }, + { + "type": { + "id": "HP:0005160", + "label": "Total anomalous pulmonary venous return" + } + }, + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0000961", + "label": "Cyanosis" + } + }, + { + "type": { + 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"heterotaxy,_visceral,_2,_autosomal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0001746", + "label": "Asplenia" + } + }, + { + "type": { + "id": "HP:0005211", + "label": "Midgut malrotation" + } + }, + { + "type": { + "id": "HP:0001696", + "label": "Situs inversus totalis" + } + }, + { + "type": { + "id": "HP:0011537", + "label": "Left atrial isomerism" + } + }, + { + "type": { + "id": "HP:0001338", + "label": "Partial agenesis of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0011667", + "label": "Bilateral superior vena cava with bridging vein" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605376", + "label": "Heterotaxy, visceral, 2, autosomal" + } + } + ], + "metaData": { + "created": "2024-06-11T23:36:06.081168Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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{ + "type": { + "id": "HP:0011671", + "label": "Interrupted inferior vena cava with azygous continuation" + } + }, + { + "type": { + "id": "HP:0011565", + "label": "Common atrium" + } + }, + { + "type": { + "id": "HP:0001669", + "label": "Transposition of the great arteries" + } + }, + { + "type": { + "id": "HP:0010452", + "label": "Ectopia of the spleen" + } + }, + { + "type": { + "id": "HP:0005160", + "label": "Total anomalous pulmonary venous return" + } + }, + { + "type": { + "id": "HP:0006695", + "label": "Atrioventricular canal defect" + } + }, + { + "type": { + "id": "HP:0034188", + "label": "Midline liver" + } + }, + { + "type": { + "id": "HP:0012020", + "label": "Right aortic arch" + } + }, + { + "type": { + "id": "HP:0033379", + "label": "Bilateral superior vena cava" + } + }, + { + "type": { + "id": "HP:0001748", + "label": "Polysplenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613751", + "label": "Heterotaxy, visceral, 4, autosomal" + } + } + ], + "metaData": { + "created": "2024-06-11T19:57:12.249574Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Heterotaxy_visceral_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heterotaxy_visceral_5_patient_1.json new file mode 100644 index 000000000..334d0d154 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heterotaxy_visceral_5_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "heterotaxy,_visceral,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011699", + "label": "Atrial reentry tachycardia" + } + }, + { + "type": { + "id": "HP:0031565", + "label": "Abdominal situs ambiguus" + } + }, + { + "type": { + "id": "HP:0003363", + "label": "Abdominal situs inversus" + } + }, + { + "type": { + "id": "HP:0030966", + "label": "Abnormal pulmonary artery morphology" + } + }, + { + "type": { + "id": "HP:0011623", + "label": "Muscular ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0031348", + "label": "Dextrotransposition of the great arteries" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:270100", + "label": "Heterotaxy, visceral, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T18:08:35.955834Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + 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}, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001651", + "label": "Dextrocardia" + } + }, + { + "type": { + "id": "HP:0012020", + "label": "Right aortic arch" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614779", + "label": "Heterotaxy, visceral, 6, autosomal" + } + } + ], + "metaData": { + "created": "2024-06-11T21:37:41.117545Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Heterotaxy_visceral_7_autosomal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heterotaxy_visceral_7_autosomal_patient_1.json new file mode 100644 index 000000000..247f922b3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heterotaxy_visceral_7_autosomal_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "heterotaxy,_visceral,_7,_autosomal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004971", + "label": "Pulmonary artery hypoplasia" + } + }, + { + "type": { + "id": "HP:0001651", + "label": "Dextrocardia" + } + }, + { + "type": { + "id": "HP:0001646", + "label": "Abnormal aortic valve morphology" + } + }, + { + "type": { + "id": "HP:0011611", + "label": "Interrupted aortic arch" + } + }, + { + "type": { + "id": "HP:0001669", + "label": "Transposition of the great arteries" + } + }, + { + "type": { + "id": "HP:0006695", + "label": "Atrioventricular canal defect" + } + }, + { + "type": { + "id": "HP:0011671", + "label": "Interrupted inferior vena cava with azygous continuation" + } + }, + { + "type": { + "id": "HP:0005160", + "label": "Total anomalous pulmonary venous return" + } + }, + { + "type": { + "id": "HP:0004935", + "label": "Pulmonary artery atresia" + } + }, + { + "type": { + "id": "HP:0001702", + "label": "Abnormal tricuspid valve morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616749", + "label": "Heterotaxy, visceral, 7, autosomal" + } + } + ], + "metaData": { + "created": "2024-06-11T19:47:21.933440Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Heterotaxy_visceral_8_autosomal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heterotaxy_visceral_8_autosomal_patient_1.json new file mode 100644 index 000000000..361b1cf46 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heterotaxy_visceral_8_autosomal_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "heterotaxy,_visceral,_8,_autosomal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003363", + "label": "Abdominal situs inversus" + } + }, + { + "type": { + "id": "HP:0011579", + "label": "Unbalanced atrioventricular canal defect" + } + }, + { + "type": { + "id": "HP:0025015", + "label": "Abnormal vascular morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617205", + "label": "Heterotaxy, visceral, 8, autosomal" + } + } + ], + "metaData": { + "created": "2024-06-11T22:55:31.648877Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Heterotaxy_visceral_9_autosomal_with_male_infertility_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heterotaxy_visceral_9_autosomal_with_male_infertility_patient_1.json new file mode 100644 index 000000000..450b20e47 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heterotaxy_visceral_9_autosomal_with_male_infertility_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "heterotaxy,_visceral,_9,_autosomal,_with_male_infertility", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618948", + "label": "Heterotaxy, visceral, 9, autosomal, with male infertility" + } + } + ], + "metaData": { + "created": "2024-06-11T21:23:29.669623Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Heterotopia_periventricular_X_linked_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heterotopia_periventricular_X_linked_dominant_patient_1.json new file mode 100644 index 000000000..0ec42413b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heterotopia_periventricular_X_linked_dominant_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "heterotopia,_periventricular,_x-linked_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001342", + "label": "Cerebral hemorrhage" + } + }, + { + "type": { + "id": "HP:0002500", + "label": "Abnormal cerebral white matter morphology" + } + }, + { + "type": { + "id": "HP:0410253", + "label": "Myeloid maturation arrest" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0032101", + "label": "Unusual infection" + } + }, + { + "type": { + "id": "HP:0002326", + "label": "Transient ischemic attack" + } + }, + { + "type": { + "id": "HP:0100307", + "label": "Cerebellar hemisphere hypoplasia" + } + }, + { + "type": { + "id": "HP:0010705", + "label": "4-5 finger syndactyly" + } + }, + { + "type": { + "id": "HP:0002269", + "label": "Abnormality of neuronal migration" + } + }, + { + "type": { + "id": "HP:0040023", + "label": "Clinodactyly of the thumb" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300049", + "label": "Heterotopia, periventricular, X-linked dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T21:41:13.375845Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Heyn_Sproul_Jackson_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heyn_Sproul_Jackson_syndrome_patient_1.json new file mode 100644 index 000000000..e1121f8cb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Heyn_Sproul_Jackson_syndrome_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "heyn-sproul-jackson_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000337", + "label": "Broad forehead" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0003510", + "label": "Severe short stature" + } + }, + { + "type": { + "id": "HP:0011297", + "label": "Abnormal digit morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618724", + "label": "Heyn-Sproul-Jackson syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:06:07.633299Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hhhh_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hhhh_syndrome_patient_1.json new file mode 100644 index 000000000..0de64efc2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hhhh_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hhhh_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:306960", + "label": "Hhhh syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:11:14.594911Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hiatt_Neu_Cooper_neurodevelopmental_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hiatt_Neu_Cooper_neurodevelopmental_syndrome_patient_1.json new file mode 100644 index 000000000..2992d3f0d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hiatt_Neu_Cooper_neurodevelopmental_syndrome_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "hiatt-neu-cooper_neurodevelopmental_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0031770", + "label": "Epicanthus palpebralis" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0002263", + "label": "Exaggerated cupid's bow" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:0006887", + "label": "Intellectual disability, progressive" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619311", + "label": "Hiatt-Neu-Cooper neurodevelopmental syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:13:59.972451Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hip_dysplasia_Beukes_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hip_dysplasia_Beukes_type_patient_1.json new file mode 100644 index 000000000..3040492b7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hip_dysplasia_Beukes_type_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hip_dysplasia,_beukes_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005041", + "label": "Irregular capital femoral epiphysis" + } + }, + { + "type": { + "id": "HP:0003182", + "label": "Shallow acetabular fossae" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:142669", + "label": "Hip dysplasia, Beukes type" + } + } + ], + "metaData": { + "created": "2024-06-11T19:21:38.030816Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_cardiac_defects_and_autonomic_dysfunction_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_cardiac_defects_and_autonomic_dysfunction_patient_1.json new file mode 100644 index 000000000..9dfdda564 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_cardiac_defects_and_autonomic_dysfunction_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "hirschsprung_disease,_cardiac_defects,_and_autonomic_dysfunction", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012332", + "label": "Abnormal autonomic nervous system physiology" + } + }, + { + "type": { + "id": "HP:0001643", + "label": "Patent ductus arteriosus" + } + }, + { + "type": { + "id": "HP:0002251", + "label": "Aganglionic megacolon" + } + }, + { + "type": { + "id": "HP:0001371", + "label": "Flexion contracture" + } + }, + { + "type": { + "id": "HP:0003196", + "label": "Short nose" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613870", + "label": "Hirschsprung disease, cardiac defects, and autonomic dysfunction" + } + } + ], + "metaData": { + "created": "2024-06-11T18:35:23.119416Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_susceptibility_to_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_susceptibility_to_1_patient_1.json new file mode 100644 index 000000000..0efb511f2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_susceptibility_to_1_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "hirschsprung_disease,_susceptibility_to,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002019", + "label": "Constipation" + } + }, + { + "type": { + "id": "HP:0003270", + "label": "Abdominal distention" + } + }, + { + "type": { + "id": "HP:0002017", + "label": "Nausea and vomiting" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:142623", + "label": "Hirschsprung disease, susceptibility to, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:40:18.631574Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_susceptibility_to_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_susceptibility_to_2_patient_1.json new file mode 100644 index 000000000..8cf564850 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_susceptibility_to_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hirschsprung_disease,_susceptibility_to,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002251", + "label": "Aganglionic megacolon" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600155", + "label": "Hirschsprung disease, susceptibility to, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:07:48.992729Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_susceptibility_to_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_susceptibility_to_3_patient_1.json new file mode 100644 index 000000000..9563e93eb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_susceptibility_to_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hirschsprung_disease,_susceptibility_to,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011285", + "label": "Long-segment aganglionic megacolon" + } + }, + { + "type": { + "id": "HP:0011286", + "label": "Total colonic aganglionosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613711", + "label": "Hirschsprung disease, susceptibility to, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T22:55:10.047260Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_susceptibility_to_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_susceptibility_to_4_patient_1.json new file mode 100644 index 000000000..c15701088 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_susceptibility_to_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hirschsprung_disease,_susceptibility_to,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002251", + "label": "Aganglionic megacolon" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613712", + "label": "Hirschsprung disease, susceptibility to, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T23:20:30.043259Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_susceptibility_to_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_susceptibility_to_5_patient_1.json new file mode 100644 index 000000000..d4efd8b72 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_susceptibility_to_5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hirschsprung_disease,_susceptibility_to,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002251", + "label": "Aganglionic megacolon" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600156", + "label": "Hirschsprung disease, susceptibility to, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T22:40:35.944569Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_with_hypoplastic_nails_and_dysmorphic_facialfeatures_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_with_hypoplastic_nails_and_dysmorphic_facialfeatures_patient_1.json new file mode 100644 index 000000000..30c85ebc9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_with_hypoplastic_nails_and_dysmorphic_facialfeatures_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "hirschsprung_disease_with_hypoplastic_nails_and_dysmorphic_facialfeatures", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0001792", + "label": "Small nail" + } + }, + { + "type": { + "id": "HP:0000126", + "label": "Hydronephrosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:235760", + "label": "Hirschsprung disease with hypoplastic nails and dysmorphic facialfeatures" + } + } + ], + "metaData": { + "created": "2024-06-11T19:30:31.436618Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_with_polydactyly_renal_agenesis_and_deafness_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_with_polydactyly_renal_agenesis_and_deafness_patient_1.json new file mode 100644 index 000000000..054c27748 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_with_polydactyly_renal_agenesis_and_deafness_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "hirschsprung_disease_with_polydactyly,_renal_agenesis,_and_deafness", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0000104", + "label": "Renal agenesis" + } + }, + { + "type": { + "id": "HP:0011286", + "label": "Total colonic aganglionosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:235740", + "label": "Hirschsprung disease with polydactyly, renal agenesis, and deafness" + } + } + ], + "metaData": { + "created": "2024-06-11T21:18:32.692208Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_with_type_D_brachydactyly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_with_type_D_brachydactyly_patient_1.json new file mode 100644 index 000000000..9ee25b4f4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_with_type_D_brachydactyly_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hirschsprung_disease_with_type_d_brachydactyly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009778", + "label": "Short thumb" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:306980", + "label": "Hirschsprung disease with type D brachydactyly" + } + } + ], + "metaData": { + "created": "2024-06-11T21:04:27.678197Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_with_ulnar_polydactyly_polysyndactyly_of_bigtoes_and_ventricular_septal_defect_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_with_ulnar_polydactyly_polysyndactyly_of_bigtoes_and_ventricular_septal_defect_patient_1.json new file mode 100644 index 000000000..a5d414972 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hirschsprung_disease_with_ulnar_polydactyly_polysyndactyly_of_bigtoes_and_ventricular_septal_defect_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hirschsprung_disease_with_ulnar_polydactyly,_polysyndactyly_of_bigtoes,_and_ventricular_septal_defect", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010438", + "label": "Abnormal ventricular septum morphology" + } + }, + { + "type": { + "id": "HP:0005873", + "label": "Polysyndactyly of hallux" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:235750", + "label": "Hirschsprung disease with ulnar polydactyly, polysyndactyly of bigtoes, and ventricular septal defect" + } + } + ], + "metaData": { + "created": "2024-06-11T22:22:34.915849Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Histidinemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Histidinemia_patient_1.json new file mode 100644 index 000000000..f5bc6d69e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Histidinemia_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "histidinemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002927", + "label": "Histidinuria" + } + }, + { + "type": { + "id": "HP:0010906", + "label": "Hyperhistidinemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:235800", + "label": "Histidinemia" + } + } + ], + "metaData": { + "created": "2024-06-11T21:56:27.574209Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Histidinuria_due_to_A_renal_tubular_defect_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Histidinuria_due_to_A_renal_tubular_defect_patient_1.json new file mode 100644 index 000000000..95fbff723 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Histidinuria_due_to_A_renal_tubular_defect_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "histidinuria_due_to_a_renal_tubular_defect", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000159", + "label": "Abnormal lip morphology" + } + }, + { + "type": { + "id": "HP:0008388", + "label": "Abnormal toenail morphology" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0000319", + "label": "Smooth philtrum" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:235830", + "label": "Histidinuria due to A renal tubular defect" + } + } + ], + "metaData": { + "created": "2024-06-11T19:51:14.103995Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Histiocytoma_angiomatoid_fibrous_somatic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Histiocytoma_angiomatoid_fibrous_somatic_patient_1.json new file mode 100644 index 000000000..24e510e98 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Histiocytoma_angiomatoid_fibrous_somatic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "histiocytoma,_angiomatoid_fibrous,_somatic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012315", + "label": "Histiocytoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612160", + "label": "Histiocytoma, angiomatoid fibrous, somatic" + } + } + ], + "metaData": { + "created": "2024-06-11T18:14:04.201447Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Histiocytosis_familial_lipochrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Histiocytosis_familial_lipochrome_patient_1.json new file mode 100644 index 000000000..d8568a1d3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Histiocytosis_familial_lipochrome_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "histiocytosis,_familial_lipochrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100727", + "label": "Histiocytosis" + } + }, + { + "type": { + "id": "HP:0002719", + "label": "Recurrent infections" + } + }, + { + "type": { + "id": "HP:0002113", + "label": "Pulmonary infiltrates" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:235900", + "label": "Histiocytosis, familial lipochrome" + } + } + ], + "metaData": { + "created": "2024-06-12T00:50:40.402877Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Histiocytosis_lymphadenopathy_plus_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Histiocytosis_lymphadenopathy_plus_syndrome_patient_1.json new file mode 100644 index 000000000..89accd712 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Histiocytosis_lymphadenopathy_plus_syndrome_patient_1.json @@ -0,0 +1,243 @@ +{ + "id": "histiocytosis-lymphadenopathy_plus_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002716", + "label": "Lymphadenopathy" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0001945", + "label": "Fever" + } + }, + { + "type": { + "id": "HP:0100727", + "label": "Histiocytosis" + } + }, + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal defect" + } + }, + { + "type": { + "id": "HP:0100534", + "label": "Episcleritis" + } + }, + { + "type": { + "id": "HP:0007380", + "label": "Facial telangiectasia" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0012785", + "label": "Flexion contracture of finger" + } + }, + { + "type": { + "id": "HP:0001744", + "label": "Splenomegaly" + } + }, + { + "type": { + "id": "HP:0033190", + "label": "Hypertrichotic hyperpigmented patch" + } + }, + { + "type": { + "id": "HP:0002619", + "label": "Varicose veins" + } + }, + { + "type": { + "id": "HP:0005200", + "label": "Retroperitoneal fibrosis" + } + }, + { + "type": { + "id": "HP:0000771", + "label": "Gynecomastia" + } + }, + { + "type": { + "id": "HP:0025408", + "label": "Abnormal spleen morphology" + } + }, + { + "type": { + "id": "HP:0009540", + "label": "Contracture of the proximal interphalangeal joint of the 2nd finger" + } + }, + { + "type": { + "id": "HP:0100651", + "label": "Type I diabetes mellitus" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + } + }, + { + "type": { + "id": "HP:0012874", + "label": "Abnormal male reproductive system physiology" + } + }, + { + "type": { + "id": "HP:0025289", + "label": "Cervical lymphadenopathy" + } + }, + { + "type": { + "id": "HP:0011682", + "label": "Perimembranous ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0000520", + "label": "Proptosis" + } + }, + { + "type": { + "id": "HP:0005824", + "label": "Clinodactyly of the 2nd toe" + } + }, + { + "type": { + "id": "HP:0001438", + "label": "Abnormal abdomen morphology" + } + }, + { + "type": { + "id": "HP:0001822", + "label": "Hallux valgus" + } + }, + { + "type": { + "id": "HP:0003121", + "label": "Limb joint contracture" + } + }, + { + "type": { + "id": "HP:0000953", + "label": "Hyperpigmentation of the skin" + } + }, + { + "type": { + "id": "HP:0034675", + "label": "Toe joint contracture" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0001507", + "label": "Growth abnormality" + } + }, + { + "type": { + "id": "HP:0033423", + "label": "Pulmonary arterial hypertension with positive acute response to NO challenge" + } + }, + { + "type": { + "id": "HP:0025021", + "label": "Abnormal erythrocyte sedimentation rate" + } + }, + { + "type": { + "id": "HP:0034392", + "label": "Joint contracture" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602782", + "label": "Histiocytosis-lymphadenopathy plus syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:42:30.968494Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Histiocytosis_progressive_mucinous_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Histiocytosis_progressive_mucinous_patient_1.json new file mode 100644 index 000000000..e2d1c1567 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Histiocytosis_progressive_mucinous_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "histiocytosis,_progressive_mucinous", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008069", + "label": "Neoplasm of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:142630", + "label": "Histiocytosis, progressive mucinous" + } + } + ], + "metaData": { + "created": "2024-06-11T20:11:33.261348Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Holocarboxylase_synthetase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Holocarboxylase_synthetase_deficiency_patient_1.json new file mode 100644 index 000000000..551a0d634 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Holocarboxylase_synthetase_deficiency_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "holocarboxylase_synthetase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002013", + "label": "Vomiting" + } + }, + { + "type": { + "id": "HP:4000200", + "label": "Reduced holocarboxylase synthetase activity in cultured fibroblasts" + } + }, + { + "type": { + "id": "HP:0001942", + "label": "Metabolic acidosis" + } + }, + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + }, + { + "type": { + "id": "HP:0012736", + "label": "Profound global developmental delay" + } + }, + { + "type": { + "id": "HP:0011973", + "label": "Paroxysmal lethargy" + } + }, + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:253270", + "label": "Holocarboxylase synthetase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T23:33:09.132669Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_11_patient_1.json new file mode 100644 index 000000000..fdbc871c8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_11_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "holoprosencephaly_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001273", + "label": "Abnormal corpus callosum morphology" + } + }, + { + "type": { + "id": "HP:0005484", + "label": "Secondary microcephaly" + } + }, + { + "type": { + "id": "HP:0009101", + "label": "Submucous cleft lip" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614226", + "label": "Holoprosencephaly 11" + } + } + ], + "metaData": { + "created": "2024-06-11T22:33:15.998204Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_12_with_or_without_pancreatic_agenesis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_12_with_or_without_pancreatic_agenesis_patient_1.json new file mode 100644 index 000000000..b041d2ea9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_12_with_or_without_pancreatic_agenesis_patient_1.json @@ -0,0 +1,159 @@ +{ + "id": "holoprosencephaly_12_with_or_without_pancreatic_agenesis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002384", + "label": "Focal impaired awareness seizure" + } + }, + { + "type": { + "id": "HP:0011467", + "label": "Absent gallbladder" + } + }, + { + "type": { + "id": "HP:0001738", + "label": "Exocrine pancreatic insufficiency" + } + }, + { + "type": { + "id": "HP:0031771", + "label": "Epicanthus tarsalis" + } + }, + { + "type": { + "id": "HP:0003397", + "label": "Generalized hypotonia due to defect at the neuromuscular junction" + } + }, + { + "type": { + "id": "HP:0002500", + "label": "Abnormal cerebral white matter morphology" + } + }, + { + "type": { + "id": "HP:0100801", + "label": "Pancreatic aplasia" + } + }, + { + "type": { + "id": "HP:0000269", + "label": "Prominent occiput" + } + }, + { + "type": { + "id": "HP:0000601", + "label": "Hypotelorism" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0008513", + "label": "Bilateral conductive hearing impairment" + } + }, + { + "type": { + "id": "HP:0031964", + "label": "Elevated circulating alanine aminotransferase concentration" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0007364", + "label": "Aplasia/Hypoplasia of the cerebrum" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0000819", + "label": "Diabetes mellitus" + } + }, + { + "type": { + "id": "HP:0001234", + "label": "Hitchhiker thumb" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0030948", + "label": "Elevated gamma-glutamyltransferase level" + } + }, + { + "type": { + "id": "HP:0001518", + "label": "Small for gestational age" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618500", + "label": "Holoprosencephaly 12 with or without pancreatic agenesis" + } + } + ], + "metaData": { + "created": "2024-06-11T18:35:54.799946Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_13_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_13_X_linked_patient_1.json new file mode 100644 index 000000000..d81d3a0f7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_13_X_linked_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "holoprosencephaly_13,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030048", + "label": "Colpocephaly" + } + }, + { + "type": { + "id": "HP:0011623", + "label": "Muscular ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0100842", + "label": "Septo-optic dysplasia" + } + }, + { + "type": { + "id": "HP:0000253", + "label": "Progressive microcephaly" + } + }, + { + "type": { + "id": "HP:0002020", + "label": "Gastroesophageal reflux" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + } + }, + { + "type": { + "id": "HP:0011343", + "label": "Moderate global developmental delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301043", + "label": "Holoprosencephaly 13, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T23:09:29.912680Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_14_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_14_patient_1.json new file mode 100644 index 000000000..5b42d1a60 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_14_patient_1.json @@ -0,0 +1,159 @@ +{ + "id": "holoprosencephaly_14", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007291", + "label": "Posterior fossa cyst" + } + }, + { + "type": { + "id": "HP:0034185", + "label": "Median pseudocleft lip" + } + }, + { + "type": { + "id": "HP:0001338", + "label": "Partial agenesis of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0002353", + "label": "EEG abnormality" + } + }, + { + "type": { + "id": "HP:0007263", + "label": "Spinocerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0000159", + "label": "Abnormal lip morphology" + } + }, + { + "type": { + "id": "HP:0012443", + "label": "Abnormal brain morphology" + } + }, + { + "type": { + "id": "HP:0000932", + "label": "Abnormal posterior cranial fossa morphology" + } + }, + { + "type": { + "id": "HP:0040194", + "label": "Increased head circumference" + } + }, + { + "type": { + "id": "HP:0012703", + "label": "Abnormal subarachnoid space morphology" + } + }, + { + "type": { + "id": "HP:0002118", + "label": "Abnormal cerebral ventricle morphology" + } + }, + { + "type": { + "id": "HP:0002921", + "label": "Abnormal cerebrospinal fluid morphology" + } + }, + { + "type": { + "id": "HP:0010438", + "label": "Abnormal ventricular septum morphology" + } + }, + { + "type": { + "id": "HP:0100952", + "label": "Enlarged sylvian cistern" + } + }, + { + "type": { + "id": "HP:0002416", + "label": "Subependymal cysts" + } + }, + { + "type": { + "id": "HP:0002334", + "label": "Abnormal cerebellar vermis morphology" + } + }, + { + "type": { + "id": "HP:0012806", + "label": "Proboscis" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0010883", + "label": "Aortic valve atresia" + } + }, + { + "type": { + "id": "HP:0009914", + "label": "Cyclopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619895", + "label": "Holoprosencephaly 14" + } + } + ], + "metaData": { + "created": "2024-06-11T21:30:54.578093Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_1_patient_1.json new file mode 100644 index 000000000..58bc3edbc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_1_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "holoprosencephaly_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012806", + "label": "Proboscis" + } + }, + { + "type": { + "id": "HP:0030779", + "label": "Ethmocephaly" + } + }, + { + "type": { + "id": "HP:0000161", + "label": "Median cleft upper lip" + } + }, + { + "type": { + "id": "HP:0012734", + "label": "Ketotic hypoglycemia" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0011732", + "label": "Abnormal adrenal morphology" + } + }, + { + "type": { + "id": "HP:0000601", + "label": "Hypotelorism" + } + }, + { + "type": { + "id": "HP:0012243", + "label": "Abnormal reproductive system morphology" + } + }, + { + "type": { + "id": "HP:0031587", + "label": "Tessier number 30 facial cleft" + } + }, + { + "type": { + "id": "HP:0000873", + "label": "Diabetes insipidus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:236100", + "label": "Holoprosencephaly 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:50:51.669857Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_2_patient_1.json new file mode 100644 index 000000000..c525ae847 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_2_patient_1.json @@ -0,0 +1,177 @@ +{ + "id": "holoprosencephaly_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100336", + "label": "Bilateral cleft lip" + } + }, + { + "type": { + "id": "HP:0007968", + "label": "Remnants of the hyaloid vascular system" + } + }, + { + "type": { + "id": "HP:0000272", + "label": "Malar flattening" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0003808", + "label": "Abnormal muscle tone" + } + }, + { + "type": { + "id": "HP:0010757", + "label": "Aplasia of the premaxilla" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0000253", + "label": "Progressive microcephaly" + } + }, + { + "type": { + "id": "HP:0006483", + "label": "Abnormal number of teeth" + } + }, + { + "type": { + "id": "HP:0001338", + "label": "Partial agenesis of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0007633", + "label": "Bilateral microphthalmos" + } + }, + { + "type": { + "id": "HP:0000553", + "label": "Abnormal uvea morphology" + } + }, + { + "type": { + "id": "HP:0002507", + "label": "Semilobar holoprosencephaly" + } + }, + { + "type": { + "id": "HP:0000601", + "label": "Hypotelorism" + } + }, + { + "type": { + "id": "HP:0000586", + "label": "Shallow orbits" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0006988", + "label": "Alobar holoprosencephaly" + } + }, + { + "type": { + "id": "HP:0009914", + "label": "Cyclopia" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0010940", + "label": "Aplasia/Hypoplasia of the nasal bone" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0031613", + "label": "Inferior chorioretinal coloboma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:157170", + "label": "Holoprosencephaly 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:47:29.279060Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian 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}, + { + "type": { + "id": "HP:0000863", + "label": "Central diabetes insipidus" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0009914", + "label": "Cyclopia" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0000601", + "label": "Hypotelorism" + } + }, + { + "type": { + "id": "HP:0011064", + "label": "Abnormal number of incisors" + } + }, + { + "type": { + "id": "HP:0000366", + "label": "Abnormality of the nose" + } + }, + { + "type": { + "id": "HP:0000193", + "label": "Bifid uvula" + } + }, + { + "type": { + "id": "HP:0009932", + "label": "Single naris" + } + }, + { + "type": { + "id": "HP:0000126", + "label": "Hydronephrosis" + } + }, + { + "type": { + "id": "HP:0002000", + "label": "Short columella" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:142945", + "label": "Holoprosencephaly 3" + } + } + ], + "metaData": { + "created": 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"holoprosencephaly_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0000437", + "label": "Depressed nasal tip" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:142946", + "label": "Holoprosencephaly 4" + } + } + ], + "metaData": { + "created": "2024-06-11T22:01:32.228989Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_5_patient_1.json new file mode 100644 index 000000000..1ec072d4a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_5_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "holoprosencephaly_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006956", + "label": "Lateral ventricle dilatation" + } + }, + { + "type": { + "id": "HP:0000601", + "label": "Hypotelorism" + } + }, + { + "type": { + "id": "HP:0006988", + "label": "Alobar holoprosencephaly" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": 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"version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_7_patient_1.json new file mode 100644 index 000000000..eb8d0d30a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Holoprosencephaly_7_patient_1.json @@ -0,0 +1,249 @@ +{ + "id": "holoprosencephaly_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100334", + "label": "Unilateral cleft palate" + } + }, + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0004122", + "label": "Midline defect of the nose" + } + }, + { + "type": { + "id": "HP:0001539", + "label": "Omphalocele" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0005469", + "label": "Flat occiput" + } + }, + { + "type": { + "id": "HP:0000242", + "label": "Parietal bossing" + } + }, + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + } + }, + { + "type": { + "id": "HP:0000161", + "label": "Median cleft upper lip" + } + }, + { + "type": { + "id": "HP:0002365", + "label": "Hypoplasia of the brainstem" + } + }, + { + "type": { + "id": "HP:0012368", + "label": "Flat face" + } + }, + { + "type": { + "id": "HP:0100337", + "label": "Bilateral cleft palate" + } + }, + { + "type": { + "id": "HP:0000267", + "label": "Cranial asymmetry" + } + }, + { + "type": { + "id": "HP:0000601", + "label": "Hypotelorism" + } + }, + { + "type": { + "id": "HP:0040195", + "label": "Decreased head circumference" + } + }, + { + "type": { + "id": "HP:0002265", + "label": "Large fleshy ears" + } + }, + { + "type": { + "id": "HP:0011343", + "label": "Moderate global developmental delay" + } + }, + { + "type": { + "id": "HP:0010663", + "label": "Abnormal thalamus morphology" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0006483", + "label": "Abnormal number of teeth" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0100729", + "label": "Large face" + } + }, + { + "type": { + "id": "HP:5201002", + "label": "Microform unilateral cleft lip" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0040075", + "label": "Hypopituitarism" + } + }, + { + "type": { + "id": "HP:0002011", + "label": "Morphological central nervous system abnormality" + } + }, + { + "type": { + "id": "HP:0006988", + "label": "Alobar holoprosencephaly" + } + }, + { + "type": { + "id": "HP:5201013", + "label": "Microform 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hooft_disease_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hooft_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006889", + "label": "Intellectual disability, borderline" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:236300", + "label": "Hooft disease" + } + } + ], + "metaData": { + "created": "2024-06-11T21:05:12.035536Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + 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end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hunter_Macdonald_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hunter_Macdonald_syndrome_patient_1.json new file mode 100644 index 000000000..ef34562e2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hunter_Macdonald_syndrome_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "hunter-macdonald_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000822", + "label": "Hypertension" + } + }, + { + "type": { + "id": "HP:0000248", + "label": "Brachycephaly" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0001634", + "label": "Mitral valve prolapse" + } + }, + { + "type": { + "id": "HP:0002656", + "label": "Epiphyseal dysplasia" + } + }, + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0000472", 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"Craniosynostosis" + } + }, + { + "type": { + "id": "HP:0007874", + "label": "Almond-shaped palpebral fissure" + } + }, + { + "type": { + "id": "HP:0002714", + "label": "Downturned corners of mouth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601379", + "label": "Hunter-Mcalpine craniosynostosis syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:28:37.458371Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Huntington_disease_like_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Huntington_disease_like_1_patient_1.json new file mode 100644 index 000000000..3096b76fc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Huntington_disease_like_1_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "huntington_disease-like_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002072", + "label": "Chorea" + } + }, + { + "type": { + "id": "HP:0000751", + "label": "Personality changes" + } + }, + { + "type": { + "id": "HP:0006999", + "label": "Basal ganglia gliosis" + } + }, + { + "type": { + "id": "HP:0001310", + "label": "Dysmetria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603218", + "label": "Huntington disease-like 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:56:30.197244Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Huntington_disease_like_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Huntington_disease_like_2_patient_1.json new file mode 100644 index 000000000..672b2faca --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Huntington_disease_like_2_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "huntington_disease-like_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000726", + "label": "Dementia" + } + }, + { + "type": { + "id": "HP:0000746", + "label": "Delusion" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0007123", + "label": "Subcortical dementia" + } + }, + { + "type": { + "id": "HP:0002464", + "label": "Spastic dysarthria" + } + }, + { + "type": { + "id": "HP:0010553", + "label": "Oculogyric crisis" + } + }, + { + "type": { + "id": "HP:0002396", + "label": "Cogwheel rigidity" + } + }, + { + "type": { + "id": "HP:0001266", + "label": "Choreoathetosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606438", + "label": "Huntington disease-like 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:36:39.545716Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", 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incontinence" + } + }, + { + "type": { + "id": "HP:0002062", + "label": "Abnormal pyramidal tract morphology" + } + }, + { + "type": { + "id": "HP:0001268", + "label": "Mental deterioration" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0020214", + "label": "Startle-induced seizure" + } + }, + { + "type": { + "id": "HP:0002300", + "label": "Mutism" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + }, + { + "type": { + "id": "HP:0007308", + "label": "Extrapyramidal dyskinesia" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0032005", + "label": "Hemidystonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604802", + "label": "Huntington disease-like 3" + } + } + ], + "metaData": { + "created": "2024-06-11T21:56:18.459584Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Huntington_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Huntington_disease_patient_1.json new file mode 100644 index 000000000..db270c1e3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Huntington_disease_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "huntington_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:0031466", + "label": "Impairment in personality functioning" + } + }, + { + "type": { + "id": "HP:0000727", + "label": "Frontal lobe dementia" + } + }, + { + "type": { + "id": "HP:0002067", + "label": "Bradykinesia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:143100", + "label": "Huntington disease" + } + } + ], + "metaData": { + "created": "2024-06-11T19:29:02.469207Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Huriez_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Huriez_syndrome_patient_1.json new file mode 100644 index 000000000..927b3dd61 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Huriez_syndrome_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "huriez_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007545", + "label": "Congenital palmoplantar hyperkeratosis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0001182", + "label": "Tapered finger" + } + }, + { + "type": { + "id": "HP:0001800", + "label": "Hypoplastic toenails" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:181600", + "label": "Huriez syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:54:43.976251Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hurler_Scheie_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hurler_Scheie_syndrome_patient_1.json new file mode 100644 index 000000000..ae2a6602b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hurler_Scheie_syndrome_patient_1.json @@ -0,0 +1,159 @@ +{ + "id": "hurler-scheie_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0002808", + "label": "Kyphosis" + } + }, + { + "type": { + "id": "HP:0001007", + "label": "Hirsutism" + } + }, + { + "type": { + "id": "HP:0002777", + "label": "Tracheal stenosis" + } + }, + { + "type": { + "id": "HP:0007957", + "label": "Corneal opacity" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0008301", + "label": "Dermatan sulfate excretion in urine" + } + }, + { + "type": { + "id": "HP:0003393", + "label": "Thenar muscle atrophy" + } + }, + { + "type": { + "id": "HP:0009697", + "label": "Contracture of the distal interphalangeal joint of the fingers" + } + }, + { + "type": { + "id": "HP:0046505", + "label": "Hand pain" + } + }, + { + "type": { + "id": "HP:0100490", + "label": "Camptodactyly of finger" + } + }, + { + "type": { + "id": "HP:0002092", + "label": "Pulmonary arterial hypertension" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0000943", + "label": "Dysostosis multiplex" + } + }, + { + "type": { + "id": "HP:0012471", + "label": "Thick vermilion border" + } + }, + { + "type": { + "id": "HP:0001537", + "label": "Umbilical hernia" + } + }, + { + "type": { + "id": "HP:0000023", + "label": "Inguinal hernia" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0033354", + "label": "Abnormal urine metabolite level" + } + }, + { + "type": { + "id": "HP:0001376", + "label": "Limitation of joint mobility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607015", + "label": "Hurler-Scheie syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:20:28.353160Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hurler_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hurler_syndrome_patient_1.json new file mode 100644 index 000000000..1e7bfcffa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hurler_syndrome_patient_1.json @@ -0,0 +1,254 @@ +{ + "id": "hurler_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P3Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000403", + "label": "Recurrent otitis media" + } + }, + { + "type": { + "id": "HP:0004437", + "label": "Cranial hyperostosis" + } + }, + { + "type": { + "id": "HP:0002205", + "label": "Recurrent respiratory infections" + } + }, + { + "type": { + "id": "HP:0000455", + "label": "Broad nasal tip" + } + }, + { + "type": { + "id": "HP:0033354", + "label": "Abnormal urine metabolite level" + } + }, + { + "type": { + "id": "HP:0002681", + "label": "Deformed sella turcica" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0025265", + "label": "Stiff toe" + } + }, + { + "type": { + "id": "HP:0007162", + "label": "Diffuse demyelination of the cerebral white matter" + } + }, + { + "type": { + "id": "HP:0410042", + "label": "Abnormal liver morphology" + } + }, + { + "type": { + "id": "HP:0000293", + "label": "Full cheeks" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0100875", + "label": "Hemimacroglossia" + } + }, + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + }, + { + "type": { + "id": "HP:0001433", + "label": "Hepatosplenomegaly" + } + }, + { + "type": { + "id": "HP:0007911", + "label": "Congenital bilateral ptosis" + } + }, + { + "type": { + "id": "HP:0002751", + "label": "Kyphoscoliosis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0002869", + "label": "Flared iliac wing" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0000943", + "label": "Dysostosis multiplex" + } + }, + { + "type": { + "id": "HP:0003561", + "label": "Birth length less than 3rd percentile" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0006710", + "label": "Aplasia/Hypoplasia of the clavicles" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0005028", + "label": "Widened proximal tibial metaphyses" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0002528", + "label": "Granulovacuolar degeneration" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0033354", + "label": "Abnormal urine metabolite level" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hutchinson_Gilford_progeria_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hutchinson_Gilford_progeria_syndrome_patient_1.json new file mode 100644 index 000000000..e5a0e770c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hutchinson_Gilford_progeria_syndrome_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "hutchinson-gilford_progeria_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0005181", + "label": "Premature coronary artery atherosclerosis" + } + }, + { + "type": { + "id": "HP:0001658", + "label": "Myocardial infarction" + } + }, + { + "type": { + "id": "HP:0040160", + "label": "Generalized osteoporosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:176670", + "label": "Hutchinson-Gilford progeria syndrome" + } + } + ], + "metaData": { 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hutterite_cerebroosteonephrodysplasia_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hutterite_cerebroosteonephrodysplasia_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:236450", + "label": "Hutterite cerebroosteonephrodysplasia syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:48:40.574442Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", 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file mode 100644 index 000000000..ef70ee7b0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydatidiform_mole_recurrent_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hydatidiform_mole,_recurrent,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032192", + "label": "Hydatidiform mole" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:231090", + "label": "Hydatidiform mole, recurrent, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:30:14.158789Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydatidiform_mole_recurrent_4_patient_1.json new file mode 100644 index 000000000..8933858dc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydatidiform_mole_recurrent_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hydatidiform_mole,_recurrent,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032192", + "label": "Hydatidiform mole" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618432", + "label": "Hydatidiform mole, recurrent, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T21:41:47.282388Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrocephalus_congenital_3_with_brain_anomalies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrocephalus_congenital_3_with_brain_anomalies_patient_1.json new file mode 100644 index 000000000..4bbae26d0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrocephalus_congenital_3_with_brain_anomalies_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "hydrocephalus,_congenital,_3,_with_brain_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + } + }, + { + "type": { + "id": "HP:0001334", + "label": "Communicating hydrocephalus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617967", + "label": "Hydrocephalus, congenital, 3, with brain 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrocephalus_congenital_5_susceptibility_to_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hydrocephalus,_congenital,_5,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010953", + "label": "Noncommunicating hydrocephalus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620241", + "label": "Hydrocephalus, congenital, 5, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-12T02:22:06.931424Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrocephalus_congenital_communicating_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrocephalus_congenital_communicating_1_patient_1.json new file mode 100644 index 000000000..03546511b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrocephalus_congenital_communicating_1_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "hydrocephalus,_congenital_communicating,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + } + }, + { + "type": { + "id": "HP:0001334", + "label": "Communicating hydrocephalus" + }, + "onset": { + "ontologyClass": { + "id": "HP:0030674", + "label": "Antenatal onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618667", + "label": 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000000000..3708b1846 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrocephalus_due_to_congenital_stenosis_of_aqueduct_of_sylvius_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hydrocephalus_due_to_congenital_stenosis_of_aqueduct_of_sylvius", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009600", + "label": "Thumb contracture" + } + }, + { + "type": { + "id": "HP:0000238", + "label": "Hydrocephalus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:307000", + "label": "Hydrocephalus due to congenital stenosis of aqueduct of sylvius" + } + } + ], + "metaData": { + "created": "2024-06-11T17:52:43.120710Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", 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+ "label": "Communicating hydrocephalus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600559", + "label": "Hydrocephalus, endocardial fibroelastosis, and cataracts" + } + } + ], + "metaData": { + "created": "2024-06-11T18:24:10.699415Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrocephalus_nonsyndromic_autosomal_recessive_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrocephalus_nonsyndromic_autosomal_recessive_1_patient_1.json new file mode 100644 index 000000000..26c31ddb5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrocephalus_nonsyndromic_autosomal_recessive_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hydrocephalus,_nonsyndromic,_autosomal_recessive_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:236600", + "label": "Hydrocephalus, nonsyndromic, autosomal recessive 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:54:59.948470Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrocephalus_normal_pressure_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrocephalus_normal_pressure_1_patient_1.json new file mode 100644 index 000000000..19e5bd744 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrocephalus_normal_pressure_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hydrocephalus,_normal_pressure,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:236690", + "label": "Hydrocephalus, normal pressure, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:10:44.356445Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrocephalus_tall_stature_joint_laxity_and_kyphoscoliosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrocephalus_tall_stature_joint_laxity_and_kyphoscoliosis_patient_1.json new file mode 100644 index 000000000..66b06f32b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrocephalus_tall_stature_joint_laxity_and_kyphoscoliosis_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hydrocephalus,_tall_stature,_joint_laxity,_and_kyphoscoliosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0430047", + "label": "Large joint hypermobilty" + } + }, + { + "type": { + "id": "HP:0003423", + "label": "Thoracolumbar kyphoscoliosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:236660", + "label": "Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis" + } + } + ], + "metaData": { + "created": "2024-06-11T22:38:37.420415Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrolethalus_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrolethalus_syndrome_1_patient_1.json new file mode 100644 index 000000000..16689f6c7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrolethalus_syndrome_1_patient_1.json @@ -0,0 +1,213 @@ +{ + "id": "hydrolethalus_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009752", + "label": "Cleft in skull base" + } + }, + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + } + }, + { + "type": { + "id": "HP:0000047", + "label": "Hypospadias" + } + }, + { + "type": { + "id": "HP:0000126", + "label": "Hydronephrosis" + } + }, + { + "type": { + "id": "HP:0010066", + "label": "Duplication of phalanx of hallux" + } + }, + { + "type": { + "id": "HP:0010866", + "label": "Abdominal wall defect" + } + }, + { + "type": { + "id": "HP:0025423", + "label": "Abnormal larynx morphology" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0001167", + "label": "Abnormal finger morphology" + } + }, + { + "type": { + "id": "HP:0004894", + "label": "Laryngotracheal stenosis" + } + }, + { + "type": { + "id": "HP:0000163", + "label": "Abnormal oral cavity morphology" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0033183", + "label": "Bilobed right lung" + } + }, + { + "type": { + "id": "HP:0032456", + "label": "Unlayered lissencephaly" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0001747", + "label": "Accessory spleen" + } + }, + { + "type": { + "id": "HP:0001305", + "label": "Dandy-Walker malformation" + } + }, + { + "type": { + "id": "HP:0025668", + "label": "Abnormal neck morphology" + } + }, + { + "type": { + "id": "HP:0006379", + "label": "Proximal tibial hypoplasia" + } + }, + { + "type": { + "id": "HP:0000008", + "label": "Abnormal morphology of female internal genitalia" + } + }, + { + "type": { + "id": "HP:0002060", + "label": "Abnormal cerebral morphology" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0006434", + "label": "Hypoplasia of proximal radius" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0007628", + "label": "Mandibular condyle hypoplasia" + } + }, + { + "type": { + "id": "HP:0011743", + "label": "Adrenal gland agenesis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:236680", + "label": "Hydrolethalus syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:17:09.742973Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrolethalus_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrolethalus_syndrome_2_patient_1.json new file mode 100644 index 000000000..aaa08ce67 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrolethalus_syndrome_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hydrolethalus_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001162", + "label": "Postaxial hand polydactyly" + } + }, + { + "type": { + "id": "HP:0002419", + "label": "Molar tooth sign on MRI" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614120", + "label": "Hydrolethalus syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:11.611772Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrops_fetalis_nonimmune_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrops_fetalis_nonimmune_patient_1.json new file mode 100644 index 000000000..37157ade9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrops_fetalis_nonimmune_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "hydrops_fetalis,_nonimmune", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0001790", + "label": "Nonimmune hydrops fetalis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:236750", + "label": "Hydrops fetalis, nonimmune" + } + } + ], + "metaData": { + "created": "2024-06-11T18:22:21.565204Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrops_fetalis_nonimmune_with_gracile_bones_and_dysmorphic_features_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrops_fetalis_nonimmune_with_gracile_bones_and_dysmorphic_features_patient_1.json new file mode 100644 index 000000000..01eb4e302 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrops_fetalis_nonimmune_with_gracile_bones_and_dysmorphic_features_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "hydrops_fetalis,_nonimmune,_with_gracile_bones_and_dysmorphic_features", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002089", + "label": "Pulmonary hypoplasia" + } + }, + { + "type": { + "id": "HP:0000835", + "label": "Adrenal hypoplasia" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0000969", + "label": "Edema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613124", + "label": "Hydrops fetalis, nonimmune, with gracile bones and dysmorphic features" + } + } + ], + "metaData": { + "created": "2024-06-11T18:56:22.966970Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrops_lactic_acidosis_and_sideroblastic_anemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrops_lactic_acidosis_and_sideroblastic_anemia_patient_1.json new file mode 100644 index 000000000..bdba70842 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydrops_lactic_acidosis_and_sideroblastic_anemia_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "hydrops,_lactic_acidosis,_and_sideroblastic_anemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001541", + "label": "Ascites" + } + }, + { + "type": { + "id": "HP:0001643", + "label": "Patent ductus arteriosus" + } + }, + { + "type": { + "id": "HP:0002353", + "label": "EEG abnormality" + } + }, + { + "type": { + "id": "HP:0001518", + "label": "Small for gestational age" + } + }, + { + "type": { + "id": "HP:0001978", + "label": "Extramedullary hematopoiesis" + } + }, + { + "type": { + "id": "HP:0003073", + "label": "Hypoalbuminemia" + } + }, + { + "type": { + "id": "HP:0002151", + "label": "Increased circulating lactate concentration" + } + }, + { + "type": { + "id": "HP:0003128", + "label": "Lactic acidosis" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0001942", + "label": "Metabolic acidosis" + } + }, + { + "type": { + "id": "HP:0005518", + "label": "Increased mean corpuscular volume" + } + }, + { + "type": { + "id": "HP:0001562", + "label": "Oligohydramnios" + } + }, + { + "type": { + "id": "HP:0000822", + "label": "Hypertension" + } + }, + { + "type": { + "id": "HP:0001790", + "label": "Nonimmune hydrops fetalis" + } + }, + { + "type": { + "id": "HP:0012131", + "label": "Abnormal number of erythroid precursors" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0004819", + "label": "Normocytic hypoplastic anemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617021", + "label": "Hydrops, lactic acidosis, and sideroblastic anemia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:39:22.771950Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydroxykynureninuria_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydroxykynureninuria_patient_1.json new file mode 100644 index 000000000..3a8ccd54e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydroxykynureninuria_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hydroxykynureninuria", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydroxylysinuria_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydroxylysinuria_patient_1.json new file mode 100644 index 000000000..92bf16660 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hydroxylysinuria_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hydroxylysinuria", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003297", + "label": "Hyperlysinuria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:236900", + "label": "Hydroxylysinuria" + } + } + ], + "metaData": { + "created": "2024-06-11T20:00:31.565735Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online 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"version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperaldosteronism_familial_type_III_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperaldosteronism_familial_type_III_patient_1.json new file mode 100644 index 000000000..1de652f40 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperaldosteronism_familial_type_III_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hyperaldosteronism,_familial,_type_iii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012590", + "label": "Abnormal urine output" + } + }, + { + "type": { + "id": "HP:0030972", + "label": "Abnormal systemic blood pressure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613677", + "label": "Hyperaldosteronism, familial, type III" + } + } + ], + "metaData": { + "created": "2024-06-11T23:55:41.933415Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperaldosteronism_familial_type_II_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperaldosteronism_familial_type_II_patient_1.json new file mode 100644 index 000000000..5d51df08e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperaldosteronism_familial_type_II_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hyperaldosteronism,_familial,_type_ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000859", + "label": "Hyperaldosteronism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605635", + "label": "Hyperaldosteronism, familial, type II" + } + } + ], + "metaData": { + "created": "2024-06-11T17:54:20.396917Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperaldosteronism_familial_type_IV_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperaldosteronism_familial_type_IV_patient_1.json new file mode 100644 index 000000000..17116ef9b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperaldosteronism_familial_type_IV_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hyperaldosteronism,_familial,_type_iv", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000859", + "label": "Hyperaldosteronism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617027", + "label": "Hyperaldosteronism, familial, type IV" + } + } + ], + "metaData": { + "created": "2024-06-11T17:50:32.952366Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperalphalipoproteinemia_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperalphalipoproteinemia_1_patient_1.json new file mode 100644 index 000000000..b3070e6b1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperalphalipoproteinemia_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hyperalphalipoproteinemia_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012184", + "label": "Increased HDL cholesterol concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:143470", + "label": "Hyperalphalipoproteinemia 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:32:13.332811Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperalphalipoproteinemia_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperalphalipoproteinemia_2_patient_1.json new file mode 100644 index 000000000..00551f75c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperalphalipoproteinemia_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hyperalphalipoproteinemia_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012153", + "label": "Hypotriglyceridemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614028", + "label": "Hyperalphalipoproteinemia 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:36:55.729077Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperammonemia_due_to_carbonic_anhydrase_VA_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperammonemia_due_to_carbonic_anhydrase_VA_deficiency_patient_1.json new file mode 100644 index 000000000..a39924eae --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperammonemia_due_to_carbonic_anhydrase_VA_deficiency_patient_1.json @@ -0,0 +1,153 @@ +{ + "id": "hyperammonemia_due_to_carbonic_anhydrase_va_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040155", + "label": "Elevated urinary 3-hydroxybutyric acid" + } + }, + { + "type": { + "id": "HP:0011997", + "label": "Postprandial hyperlactemia" + } + }, + { + "type": { + "id": "HP:0012337", + "label": "Abnormal homeostasis" + } + }, + { + "type": { + "id": "HP:0008358", + "label": "Hyperprolinemia" + } + }, + { + "type": { + "id": "HP:0003112", + "label": "Abnormal circulating amino acid concentration" + } + }, + { + "type": { + "id": "HP:0004364", + "label": "Abnormal circulating nitrogen compound concentration" + } + }, + { + "type": { + "id": "HP:0032943", + "label": "Abnormal urine pH" + } + }, + { + "type": { + "id": "HP:0033407", + "label": "Elevated urine acetoacetic acid level" + } + }, + { + "type": { + "id": "HP:0032943", + "label": "Abnormal urine pH" + } + }, + { + "type": { + "id": "HP:0032943", + "label": "Abnormal urine pH" + } + }, + { + "type": { + "id": "HP:0005976", + "label": "Hyperkalemic metabolic acidosis" + } + }, + { + "type": { + "id": "HP:0003348", + "label": "Hyperalaninemia" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + }, + "modifiers": [ + { + "id": "HP:0025303", + "label": "Episodic" + } + ] + }, + { + "type": { + "id": "HP:0004898", + "label": "Persistent lactic acidosis" + } + }, + { + "type": { + "id": "HP:0001950", + "label": "Respiratory alkalosis" + } + }, + { + "type": { + "id": "HP:0003217", + "label": "Hyperglutaminemia" + } + }, + { + "type": { + "id": "HP:0011973", + "label": "Paroxysmal lethargy" + } + }, + { + "type": { + "id": "HP:0033407", + "label": "Elevated urine acetoacetic acid level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615751", + "label": "Hyperammonemia due to carbonic anhydrase VA deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T18:04:10.178260Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperbilirubinemia_Rotor_type_digenic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperbilirubinemia_Rotor_type_digenic_patient_1.json new file mode 100644 index 000000000..de9949bc9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperbilirubinemia_Rotor_type_digenic_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hyperbilirubinemia,_rotor_type,_digenic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001000", + "label": "Abnormality of skin pigmentation" + } + }, + { + "type": { + "id": "HP:0034430", + "label": "Abnormal joint physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:237450", + "label": "Hyperbilirubinemia, Rotor type, digenic" + } + } + ], + "metaData": { + "created": "2024-06-11T22:55:08.746159Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperbilirubinemia_conjugated_type_III_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperbilirubinemia_conjugated_type_III_patient_1.json new file mode 100644 index 000000000..592c5cf4c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperbilirubinemia_conjugated_type_III_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hyperbilirubinemia,_conjugated,_type_iii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000952", + "label": "Jaundice" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:237550", + "label": "Hyperbilirubinemia, conjugated, type III" + } + } + ], + "metaData": { + "created": "2024-06-11T21:48:52.082119Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperbilirubinemia_familial_transient_neonatal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperbilirubinemia_familial_transient_neonatal_patient_1.json new file mode 100644 index 000000000..c5e3c8788 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperbilirubinemia_familial_transient_neonatal_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hyperbilirubinemia,_familial_transient_neonatal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000952", + "label": "Jaundice" + } + }, + { + "type": { + "id": "HP:0033479", + "label": "Abnormal circulating bilirubin concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:237900", + "label": "Hyperbilirubinemia, familial transient neonatal" + } + } + ], + "metaData": { + "created": "2024-06-11T22:46:06.204837Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperbilirubinemia_shunt_primary_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperbilirubinemia_shunt_primary_patient_1.json new file mode 100644 index 000000000..b477e030d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperbilirubinemia_shunt_primary_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "hyperbilirubinemia,_shunt,_primary", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002904", + "label": "Hyperbilirubinemia" + } + }, + { + "type": { + "id": "HP:0006268", + "label": "Fluctuating splenomegaly" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:237800", + "label": "Hyperbilirubinemia, shunt, primary" + } + } + ], + "metaData": { + "created": "2024-06-11T21:35:39.717881Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperbiliverdinemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperbiliverdinemia_patient_1.json new file mode 100644 index 000000000..53f7d37ad --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperbiliverdinemia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hyperbiliverdinemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032003", + "label": "Green urine" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614156", + "label": "Hyperbiliverdinemia" + } + } + ], + "metaData": { + "created": "2024-06-11T21:49:43.584592Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypercalcemia_infantile_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypercalcemia_infantile_1_patient_1.json new file mode 100644 index 000000000..b9cc80eea --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypercalcemia_infantile_1_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "hypercalcemia,_infantile,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012408", + "label": "Medullary nephrocalcinosis" + } + }, + { + "type": { + "id": "HP:0002150", + "label": "Hypercalciuria" + } + }, + { + "type": { + "id": "HP:0003072", + "label": "Hypercalcemia" + } + }, + { + "type": { + "id": "HP:0000121", + "label": "Nephrocalcinosis" + } + }, + { + "type": { + "id": "HP:0031817", + "label": "Decreased circulating parathyroid hormone level" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:143880", + "label": "Hypercalcemia, infantile, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:05:51.563349Z", + "createdBy": 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"id": "hyperchlorhidrosis,_isolated", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002153", + "label": "Hyperkalemia" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0012337", + "label": "Abnormal homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:143860", + "label": "Hyperchlorhidrosis, isolated" + } + } + ], + "metaData": { + "created": "2024-06-11T21:10:50.117681Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypercholesterolemia_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..e0b23b527 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypercholesterolemia_autosomal_recessive_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hypercholesterolemia,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010874", + "label": "Tendon xanthomatosis" + } + }, + { + "type": { + "id": "HP:0003563", + "label": "Decreased LDL cholesterol concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603813", + "label": "Hypercholesterolemia, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T19:51:15.369864Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypercholesterolemia_familial_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypercholesterolemia_familial_1_patient_1.json new file mode 100644 index 000000000..9a6625141 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypercholesterolemia_familial_1_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hypercholesterolemia,_familial,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypercholesterolemia_familial_2_patient_1.json new file mode 100644 index 000000000..0fafe2668 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypercholesterolemia_familial_2_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "hypercholesterolemia,_familial,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003141", + "label": "Increased LDL cholesterol concentration" + } + }, + { + "type": { + "id": "HP:0003124", + "label": "Hypercholesterolemia" + } + }, + { + "type": { + "id": "HP:0001114", + "label": "Xanthelasma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:144010", + "label": "Hypercholesterolemia, familial, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:52:57.001199Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperekplexia_1_patient_1.json new file mode 100644 index 000000000..a0169c73a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperekplexia_1_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "hyperekplexia_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0001537", + "label": "Umbilical hernia" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0001384", + "label": "Abnormal hip joint morphology" + } + }, + { + "type": { + "id": "HP:0031951", + "label": "Nocturnal seizures" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0002374", + "label": "Diminished movement" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:149400", + "label": "Hyperekplexia 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:46:34.863591Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperekplexia_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperekplexia_2_patient_1.json new file mode 100644 index 000000000..30bcf6157 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperekplexia_2_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "hyperekplexia_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000483", + "label": "Astigmatism" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0010519", + "label": "Increased fetal movement" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + }, + { + "type": { + "id": "HP:0012719", + "label": "Functional abnormality of the gastrointestinal tract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614619", + "label": "Hyperekplexia 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:28:38.248782Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperekplexia_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperekplexia_3_patient_1.json new file mode 100644 index 000000000..8de340552 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperekplexia_3_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "hyperekplexia_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001276", + "label": "Hypertonia" + } + }, + { + "type": { + "id": "HP:0002104", + "label": "Apnea" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0002267", + "label": "Exaggerated startle response" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0012420", + "label": "Meconium stained amniotic fluid" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614618", + "label": "Hyperekplexia 3" + } + } + ], + "metaData": { + "created": "2024-06-11T21:48:50.998095Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperekplexia_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperekplexia_4_patient_1.json new file mode 100644 index 000000000..b5aa39f0b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperekplexia_4_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "hyperekplexia_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012385", + "label": "Camptodactyly" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0001336", + "label": "Myoclonus" + } + }, + { + "type": { + "id": "HP:0002521", + "label": "Hypsarrhythmia" + } + }, + { + "type": { + "id": "HP:0002878", + "label": "Respiratory failure" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0002751", + "label": "Kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0001276", + "label": "Hypertonia" + } + }, + { + "type": { + "id": "HP:0001298", + "label": "Encephalopathy" + } + }, + { + "type": { + "id": "HP:0001181", + "label": "Adducted thumb" + } + }, + { + "type": { + "id": "HP:0000023", + "label": "Inguinal hernia" + } + }, + { + "type": { + "id": "HP:0005684", + "label": "Distal arthrogryposis" + } + }, + { + "type": { + "id": "HP:0001371", + "label": "Flexion contracture" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618011", + "label": "Hyperekplexia 4" + } + } + ], + "metaData": { + "created": "2024-06-11T21:01:53.734088Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypereosinophilic_syndrome_idiopathic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypereosinophilic_syndrome_idiopathic_patient_1.json new file mode 100644 index 000000000..e3f065da8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypereosinophilic_syndrome_idiopathic_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "hypereosinophilic_syndrome,_idiopathic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004936", + "label": "Venous thrombosis" + } + }, + { + "type": { + "id": "HP:0002113", + "label": "Pulmonary infiltrates" + } + }, + { + "type": { + "id": "HP:0001433", + "label": "Hepatosplenomegaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607685", + "label": "Hypereosinophilic syndrome, idiopathic" + } + } + ], + "metaData": { + "created": "2024-06-11T19:43:02.805721Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperferritinemia_with_or_without_cataract_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperferritinemia_with_or_without_cataract_patient_1.json new file mode 100644 index 000000000..025f50c13 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperferritinemia_with_or_without_cataract_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "hyperferritinemia_with_or_without_cataract", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0040135", + "label": "Abnormal transferrin saturation" + } + }, + { + "type": { + "id": "HP:0003281", + "label": "Increased circulating ferritin concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600886", + "label": "Hyperferritinemia with or without cataract" + } + } + ], + "metaData": { + "created": "2024-06-11T21:01:54.858728Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperglycinemia_lactic_acidosis_and_seizures_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperglycinemia_lactic_acidosis_and_seizures_patient_1.json new file mode 100644 index 000000000..8d2bf93e0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperglycinemia_lactic_acidosis_and_seizures_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "hyperglycinemia,_lactic_acidosis,_and_seizures", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0002151", + "label": "Increased circulating lactate concentration" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614462", + "label": "Hyperglycinemia, lactic acidosis, and seizures" + } + } + ], + "metaData": { + "created": "2024-06-11T19:18:22.617641Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypergonadotropic_hypogonadism_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypergonadotropic_hypogonadism_patient_1.json new file mode 100644 index 000000000..c2e8dde96 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypergonadotropic_hypogonadism_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hypergonadotropic_hypogonadism", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000815", + "label": "Hypergonadotropic hypogonadism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:238320", + "label": "Hypergonadotropic hypogonadism" + } + } + ], + "metaData": { + "created": "2024-06-11T21:00:00.336678Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperhidrosis_gustatory_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperhidrosis_gustatory_patient_1.json new file mode 100644 index 000000000..57567ca80 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperhidrosis_gustatory_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hyperhidrosis,_gustatory", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000975", + "label": "Hyperhidrosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:144100", + "label": "Hyperhidrosis, gustatory" + } + } + ], + "metaData": { + "created": "2024-06-11T21:09:47.835928Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperhidrosis_palmaris_et_plantaris_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperhidrosis_palmaris_et_plantaris_patient_1.json new file mode 100644 index 000000000..9b6d326d8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperhidrosis_palmaris_et_plantaris_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hyperhidrosis_palmaris_et_plantaris", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007410", + "label": "Palmoplantar hyperhidrosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:144110", + "label": "Hyperhidrosis palmaris et plantaris" + } + } + ], + "metaData": { + "created": "2024-06-11T22:34:06.563366Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_1_patient_1.json new file mode 100644 index 000000000..fe871739e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_1_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "hyperinsulinemic_hypoglycemia,_familial,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002173", + "label": "Hypoglycemic seizures" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0004510", + "label": "Pancreatic islet-cell hyperplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:256450", + "label": "Hyperinsulinemic hypoglycemia, familial, 1" + } + } + ], + "metaData": { + "created": "2024-06-12T02:17:43.455124Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_2_patient_1.json new file mode 100644 index 000000000..8511bcb38 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hyperinsulinemic_hypoglycemia,_familial,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012090", + "label": "Abnormal pancreas morphology" + } + }, + { + "type": { + "id": "HP:0012337", + "label": "Abnormal homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601820", + "label": "Hyperinsulinemic hypoglycemia, familial, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:10:17.609422Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_3_patient_1.json new file mode 100644 index 000000000..c9cf860f3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_3_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "hyperinsulinemic_hypoglycemia,_familial,_3", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P71Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000825", + "label": "Hyperinsulinemic hypoglycemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602485", + "label": "Hyperinsulinemic hypoglycemia, familial, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T21:59:06.620636Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_4_patient_1.json new file mode 100644 index 000000000..775ac5a52 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_4_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "hyperinsulinemic_hypoglycemia,_familial,_4", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001325", + "label": "Hypoglycemic coma" + } + }, + { + "type": { + "id": "HP:0002173", + "label": "Hypoglycemic seizures" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609975", + "label": "Hyperinsulinemic hypoglycemia, familial, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T18:45:39.727383Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_5_patient_1.json new file mode 100644 index 000000000..bdd4ca88b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_5_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hyperinsulinemic_hypoglycemia,_familial,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034384", + "label": "Elevated circulating insulin:C-peptide ratio" + } + }, + { + "type": { + "id": "HP:0004372", + "label": "Reduced consciousness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609968", + "label": "Hyperinsulinemic hypoglycemia, familial, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T23:43:06.094099Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_6_patient_1.json new file mode 100644 index 000000000..6f6918312 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_6_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hyperinsulinemic_hypoglycemia,_familial,_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002173", + "label": "Hypoglycemic seizures" + } + }, + { + "type": { + "id": "HP:0001325", + "label": "Hypoglycemic coma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606762", + "label": "Hyperinsulinemic hypoglycemia, familial, 6" + } + } + ], + "metaData": { + "created": "2024-06-11T20:42:52.665966Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_7_patient_1.json new file mode 100644 index 000000000..45b085cd9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_7_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "hyperinsulinemic_hypoglycemia,_familial,_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001943", + "label": "Hypoglycemia" + }, + "modifiers": [ + { + "id": "HP:0025377", + "label": "Triggered by exertion" + } + ] + }, + { + "type": { + "id": "HP:0002173", + "label": "Hypoglycemic seizures" + }, + "modifiers": [ + { + "id": "HP:0025377", + "label": "Triggered by exertion" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610021", + "label": "Hyperinsulinemic hypoglycemia, familial, 7" + } + } + ], + "metaData": { + "created": "2024-06-11T23:37:29.092951Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_8_patient_1.json new file mode 100644 index 000000000..9ba31e09d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperinsulinemic_hypoglycemia_familial_8_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "hyperinsulinemic_hypoglycemia,_familial,_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" + } + }, + { + "type": { + "id": "HP:0000842", + "label": "Hyperinsulinemia" + } + }, + { + "type": { + "id": "HP:0008846", + "label": "Severe intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0002925", + "label": "Elevated circulating thyroid-stimulating hormone concentration" + } + }, + { + "type": { + "id": "HP:0012734", + "label": "Ketotic hypoglycemia" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0003124", + "label": "Hypercholesterolemia" + } + }, + { + "type": { + "id": "HP:0000821", + "label": "Hypothyroidism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620211", + "label": "Hyperinsulinemic hypoglycemia, familial, 8" + } + } + ], + "metaData": { + "created": "2024-06-11T20:10:52.749396Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperkalemic_periodic_paralysis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperkalemic_periodic_paralysis_patient_1.json new file mode 100644 index 000000000..13dcf8a6c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperkalemic_periodic_paralysis_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hyperkalemic_periodic_paralysis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003470", + "label": "Paralysis" + } + }, + { + "type": { + "id": "HP:0002153", + "label": "Hyperkalemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:170500", + "label": "Hyperkalemic periodic paralysis" + } + } + ], + "metaData": { + "created": "2024-06-11T21:11:34.441385Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperkeratosis_lenticularis_perstans_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperkeratosis_lenticularis_perstans_patient_1.json new file mode 100644 index 000000000..9aeb9ea37 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperkeratosis_lenticularis_perstans_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hyperkeratosis_lenticularis_perstans", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007570", + "label": "Hyperkeratosis lenticularis perstans" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:144150", + "label": "Hyperkeratosis lenticularis perstans" + } + } + ], + "metaData": { + "created": "2024-06-11T18:38:53.160101Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperlipidemia_familial_combined_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperlipidemia_familial_combined_3_patient_1.json new file mode 100644 index 000000000..5a5672e57 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperlipidemia_familial_combined_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hyperlipidemia,_familial_combined,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001114", + "label": "Xanthelasma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:144250", + "label": "Hyperlipidemia, familial combined, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T20:39:21.827897Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperlipoproteinemia_type_ID_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperlipoproteinemia_type_ID_patient_1.json new file mode 100644 index 000000000..a1538bdc1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperlipoproteinemia_type_ID_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "hyperlipoproteinemia,_type_id", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033256", + "label": "Pancolitis" + } + }, + { + "type": { + "id": "HP:0010980", + "label": "Hyperlipoproteinemia" + } + }, + { + "type": { + "id": "HP:0006704", + "label": "Abnormal coronary artery morphology" + } + }, + { + "type": { + "id": "HP:0031028", + "label": "Lactescent serum" + } + }, + { + "type": { + "id": "HP:0012238", + "label": "Increased circulating chylomicron concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615947", + "label": "Hyperlipoproteinemia, type ID" + } + } + ], + "metaData": { + "created": "2024-06-12T00:30:46.804395Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperlipoproteinemia_type_II_and_deafness_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperlipoproteinemia_type_II_and_deafness_patient_1.json new file mode 100644 index 000000000..31d429d23 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperlipoproteinemia_type_II_and_deafness_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hyperlipoproteinemia,_type_ii,_and_deafness", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003124", + "label": "Hypercholesterolemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:144300", + "label": "Hyperlipoproteinemia, type II, and deafness" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:09.165321Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperlipoproteinemia_type_V_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperlipoproteinemia_type_V_patient_1.json new file mode 100644 index 000000000..ccb004943 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperlipoproteinemia_type_V_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hyperlipoproteinemia,_type_v", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000819", + "label": "Diabetes mellitus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:144650", + "label": "Hyperlipoproteinemia, type V" + } + } + ], + "metaData": { + "created": "2024-06-11T19:54:27.558927Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperlysinemia_due_to_defect_in_lysine_transport_into_mitochondria_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperlysinemia_due_to_defect_in_lysine_transport_into_mitochondria_patient_1.json new file mode 100644 index 000000000..85b204746 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperlysinemia_due_to_defect_in_lysine_transport_into_mitochondria_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hyperlysinemia_due_to_defect_in_lysine_transport_into_mitochondria", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002161", + "label": "Hyperlysinemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:238710", + "label": "Hyperlysinemia due to defect in lysine transport into mitochondria" + } + } + ], + "metaData": { + "created": "2024-06-11T22:25:06.356222Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperlysinemia_type_I_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperlysinemia_type_I_patient_1.json new file mode 100644 index 000000000..de380977a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperlysinemia_type_I_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "hyperlysinemia,_type_i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0500208", + "label": "Increased CSF lysine concentration" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0033354", + "label": "Abnormal urine metabolite level" + } + }, + { + "type": { + "id": "HP:0500163", + "label": "Hypoornithinemia" + } + }, + { + "type": { + "id": "HP:0033107", + "label": "Abnormal circulating proteinogenic amino acid concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:238700", + "label": "Hyperlysinemia, type I" + } + } + ], + "metaData": { + "created": "2024-06-11T21:16:38.080838Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperlysinuria_with_hyperammonemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperlysinuria_with_hyperammonemia_patient_1.json new file mode 100644 index 000000000..0ad9ae9a4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperlysinuria_with_hyperammonemia_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "hyperlysinuria_with_hyperammonemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0002024", + "label": "Malabsorption" + } + }, + { + "type": { + "id": "HP:0001254", + "label": "Lethargy" + } + }, + { + "type": { + "id": "HP:0003168", + "label": "Dibasicaminoaciduria" + } + }, + { + "type": { + "id": "HP:0033096", + "label": "Increased aspartate family amino acid level in urine" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:238750", + "label": "Hyperlysinuria with hyperammonemia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:46:39.941586Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypermanganesemia_with_dystonia_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypermanganesemia_with_dystonia_1_patient_1.json new file mode 100644 index 000000000..33d76151b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypermanganesemia_with_dystonia_1_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "hypermanganesemia_with_dystonia_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001394", + "label": "Cirrhosis" + } + }, + { + "type": { + "id": "HP:0001901", + "label": "Polycythemia" + } + }, + { + "type": { + "id": "HP:0002313", + "label": "Spastic paraparesis" + } + }, + { + "type": { + "id": "HP:0007010", + "label": "Poor fine motor coordination" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0006583", + "label": "Fatal liver failure in infancy" + } + }, + { + "type": { + "id": "HP:0002548", + "label": "Parkinsonism with favorable response to dopaminergic medication" + } + }, 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperornithinemia_hyperammonemia_homocitrullinemia_syndrome_patient_1.json new file mode 100644 index 000000000..406691fb7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperornithinemia_hyperammonemia_homocitrullinemia_syndrome_patient_1.json @@ -0,0 +1,177 @@ +{ + "id": "hyperornithinemia-hyperammonemia-homocitrullinemia_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002123", + "label": "Generalized myoclonic seizure" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0001258", + "label": "Spastic paraplegia" + } + }, + { + "type": { + "id": "HP:0012026", + "label": "Hyperornithinemia" + } + }, + { + "type": { + "id": "HP:0001987", + "label": "Hyperammonemia" + } + }, + { + "type": { + "id": "HP:0002168", + "label": "Scanning speech" + } + }, + { + "type": { + "id": "HP:0034464", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperostosis_cranialis_interna_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "hyperostosis_cranialis_interna", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P26Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004490", + "label": "Calvarial hyperostosis" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0000265", + "label": "Mastoiditis" + } + }, + { + "type": { + "id": "HP:0012373", + "label": "Abnormal eye physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:144755", + "label": "Hyperostosis cranialis interna" + } + } + ], + "metaData": { + "created": "2024-06-11T19:00:21.142094Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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"id": "HP:0004425", + "label": "Flat forehead" + } + }, + { + "type": { + "id": "HP:0001507", + "label": "Growth abnormality" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:144750", + "label": "Hyperostosis, endosteal" + } + } + ], + "metaData": { + "created": "2024-06-11T17:47:00.505908Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperoxaluria_primary_type_III_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperoxaluria_primary_type_III_patient_1.json new file mode 100644 index 000000000..5a41ccc51 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperoxaluria_primary_type_III_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hyperoxaluria,_primary,_type_iii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003159", + "label": "Hyperoxaluria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613616", + "label": "Hyperoxaluria, primary, type III" + } + } + ], + "metaData": { + "created": "2024-06-11T22:15:40.424227Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperoxaluria_primary_type_II_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperoxaluria_primary_type_II_patient_1.json new file mode 100644 index 000000000..4e850ae40 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperoxaluria_primary_type_II_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hyperoxaluria,_primary,_type_ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032943", + "label": "Abnormal urine pH" + } + }, + { + "type": { + "id": "HP:0012614", + "label": "Abnormal urine cytology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:260000", + "label": "Hyperoxaluria, primary, type II" + } + } + ], + "metaData": { + "created": "2024-06-11T20:32:41.581634Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperoxaluria_primary_type_I_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperoxaluria_primary_type_I_patient_1.json new file mode 100644 index 000000000..41e6e6d32 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperoxaluria_primary_type_I_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "hyperoxaluria,_primary,_type_i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001944", + "label": "Dehydration" + } + }, + { + "type": { + "id": "HP:0034684", + "label": "Abnormal enzyme concentration or activity" + } + }, + { + "type": { + "id": "HP:0007958", + "label": "Optic atrophy from cranial nerve compression" + } + }, + { + "type": { + "id": "HP:0010766", + "label": "Ectopic calcification" + } + }, + { + "type": { + "id": "HP:0002756", + "label": "Pathologic fracture" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:259900", + "label": "Hyperoxaluria, primary, type I" + } + } + ], + "metaData": { + "created": "2024-06-11T20:08:26.694795Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperparathyroidism_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperparathyroidism_1_patient_1.json new file mode 100644 index 000000000..657ea46d4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperparathyroidism_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hyperparathyroidism_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003072", + "label": "Hypercalcemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:145000", + "label": "Hyperparathyroidism 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:37:11.961151Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperparathyroidism_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperparathyroidism_2_patient_1.json new file mode 100644 index 000000000..6800c7704 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperparathyroidism_2_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "hyperparathyroidism_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006725", + "label": "Pancreatic adenocarcinoma" + } + }, + { + "type": { + "id": "HP:0002897", + "label": "Parathyroid adenoma" + } + }, + { + "type": { + "id": "HP:0000113", + "label": "Polycystic kidney dysplasia" + } + }, + { + "type": { + "id": "HP:0006780", + "label": "Parathyroid carcinoma" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0009726", + "label": "Renal neoplasm" + } + }, + { + "type": { + "id": "HP:0011770", + "label": "Tertiary hyperparathyroidism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:145001", + "label": "Hyperparathyroidism 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:32:15.167945Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperparathyroidism_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperparathyroidism_4_patient_1.json new file mode 100644 index 000000000..a770fc2df --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperparathyroidism_4_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "hyperparathyroidism_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008200", + "label": "Primary hyperparathyroidism" + } + }, + { + "type": { + "id": "HP:0003072", + "label": "Hypercalcemia" + } + }, + { + "type": { + "id": "HP:0000787", + "label": "Nephrolithiasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617343", + "label": "Hyperparathyroidism 4" + } + } + ], + "metaData": { + "created": "2024-06-11T18:32:31.806641Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperparathyroidism_neonatal_self_limited_primary_with_hypercalciuria_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperparathyroidism_neonatal_self_limited_primary_with_hypercalciuria_patient_1.json new file mode 100644 index 000000000..fad991b35 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperparathyroidism_neonatal_self_limited_primary_with_hypercalciuria_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "hyperparathyroidism,_neonatal_self-limited_primary,_with_hypercalciuria", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003072", + "label": "Hypercalcemia" + } + }, + { + "type": { + "id": "HP:0002017", + "label": "Nausea and vomiting" + } + }, + { + "type": { + "id": "HP:0002150", + "label": "Hypercalciuria" + } + }, + { + "type": { + "id": "HP:0001531", + "label": "Failure to thrive in infancy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:239199", + "label": "Hyperparathyroidism, neonatal self-limited primary, with hypercalciuria" + } + } + ], + "metaData": { + "created": "2024-06-11T19:31:46.284062Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperparathyroidism_neonatal_severe_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperparathyroidism_neonatal_severe_patient_1.json new file mode 100644 index 000000000..338b894b4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperparathyroidism_neonatal_severe_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "hyperparathyroidism,_neonatal_severe", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002094", + "label": "Dyspnea" + } + }, + { + "type": { + "id": "HP:0003761", + "label": "Calcinosis" + } + }, + { + "type": { + "id": "HP:0008200", + "label": "Primary hyperparathyroidism" + } + }, + { + "type": { + "id": "HP:0002757", + "label": "Recurrent fractures" + } + }, + { + "type": { + "id": "HP:0000103", + "label": "Polyuria" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0002789", + "label": "Tachypnea" + } + }, + { + "type": { + "id": "HP:0003025", + "label": "Metaphyseal irregularity" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0006564", + "label": "Fluctuating hepatomegaly" + } + }, + { + "type": { + "id": "HP:0001433", + "label": "Hepatosplenomegaly" + } + }, + { + "type": { + "id": "HP:0003117", + "label": "Abnormal circulating hormone concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:239200", + "label": "Hyperparathyroidism, neonatal severe" + } + } + ], + "metaData": { + "created": "2024-06-11T21:01:36.311040Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperparathyroidism_primary_caused_by_water_clear_cell_hyperplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperparathyroidism_primary_caused_by_water_clear_cell_hyperplasia_patient_1.json new file mode 100644 index 000000000..f46e05084 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperparathyroidism_primary_caused_by_water_clear_cell_hyperplasia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hyperparathyroidism,_primary,_caused_by_water_clear_cell_hyperplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008200", + "label": "Primary hyperparathyroidism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600166", + "label": "Hyperparathyroidism, primary, caused by water clear cell hyperplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:57:22.382331Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperparathyroidism_transient_neonatal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperparathyroidism_transient_neonatal_patient_1.json new file mode 100644 index 000000000..f4693a87b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperparathyroidism_transient_neonatal_patient_1.json @@ -0,0 +1,147 @@ +{ + "id": "hyperparathyroidism,_transient_neonatal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010561", + "label": "Undulate ribs" + } + }, + { + "type": { + "id": "HP:0000938", + "label": "Osteopenia" + } + }, + { + "type": { + "id": "HP:0000248", + "label": "Brachycephaly" + } + }, + { + "type": { + "id": "HP:0001334", + "label": "Communicating hydrocephalus" + } + }, + { + "type": { + "id": "HP:0006863", + "label": "Severe expressive language delay" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0000105", + "label": "Enlarged kidney" + } + }, + { + "type": { + "id": "HP:0001537", + "label": "Umbilical hernia" + } + }, + { + "type": { + "id": "HP:0030423", + "label": "Splenic cyst" + } + }, + { + "type": { + "id": "HP:0010862", + 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} + }, + { + "type": { + "id": "HP:0000938", + "label": "Osteopenia" + } + }, + { + "type": { + "id": "HP:0000490", + "label": "Deeply set eye" + } + }, + { + "type": { + "id": "HP:0000341", + "label": "Narrow forehead" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001385", + "label": "Hip dysplasia" + } + }, + { + "type": { + "id": "HP:0008936", + "label": "Axial hypotonia" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0006118", + "label": "Shortening of all distal phalanges of the fingers" + } + }, + { + "type": { + "id": "HP:0002376", + "label": "Developmental regression" + } + }, + { + "type": { + "id": "HP:0004209", + "label": "Clinodactyly of the 5th finger" + } + }, + { + "type": { + "id": "HP:0000519", + "label": "Developmental cataract" + } + }, + { + "type": { + "id": "HP:0003155", + "label": "Elevated circulating alkaline phosphatase 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperpigmentation_familial_progressive_patient_1.json new file mode 100644 index 000000000..0f265e114 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperpigmentation_familial_progressive_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hyperpigmentation,_familial_progressive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001003", + "label": "Multiple lentigines" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:145250", + "label": "Hyperpigmentation, familial progressive" + } + } + ], + "metaData": { + "created": "2024-06-12T00:49:57.308421Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperpigmentation_of_fuldauer_and_kuijpers_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hyperpigmentation_of_fuldauer_and_kuijpers", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000953", + "label": "Hyperpigmentation of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:145200", + "label": "Hyperpigmentation of fuldauer and kuijpers" + } + } + ], + "metaData": { + "created": "2024-06-11T19:53:28.690049Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperproinsulinemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperproinsulinemia_patient_1.json new file mode 100644 index 000000000..f0094dabd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperproinsulinemia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hyperproinsulinemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003074", + "label": "Hyperglycemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616214", + "label": "Hyperproinsulinemia" + } + } + ], + "metaData": { + "created": "2024-06-11T20:19:21.473892Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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+ } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615555", + "label": "Hyperprolactinemia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:56:16.733989Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperprolinemia_type_II_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperprolinemia_type_II_patient_1.json new file mode 100644 index 000000000..44093ca73 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperprolinemia_type_II_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hyperprolinemia,_type_ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:239510", + "label": "Hyperprolinemia, type II" + } + } + ], + "metaData": { + "created": "2024-06-11T18:57:30.123732Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperprolinemia_type_I_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperprolinemia_type_I_patient_1.json new file mode 100644 index 000000000..362649de5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperprolinemia_type_I_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "hyperprolinemia,_type_i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:5200423", + "label": "Abnormal experience of reality" + } + }, + { + "type": { + "id": "HP:0011344", + "label": "Severe global developmental delay" + } + }, + { + "type": { + "id": "HP:0007018", + "label": 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"type": { + "id": "HP:0006516", + "label": "Hypersensitivity pneumonitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:145300", + "label": "Hypersensitivity pneumonitis, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T17:45:22.709413Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypersulfaturia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypersulfaturia_patient_1.json new file mode 100644 index 000000000..c207b2153 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypersulfaturia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hypersulfaturia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006649", + "label": "Costochondral pain" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620372", + "label": "Hypersulfaturia" + } + } + ], + "metaData": { + "created": "2024-06-11T19:35:52.405164Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertelorism_and_other_facial_dysmorphism_brachydactyly_genital_abnormalities_mental_retardation_and_recurrent_inflammatory_episodes_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertelorism_and_other_facial_dysmorphism_brachydactyly_genital_abnormalities_mental_retardation_and_recurrent_inflammatory_episodes_patient_1.json new file mode 100644 index 000000000..e54e1ed8a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertelorism_and_other_facial_dysmorphism_brachydactyly_genital_abnormalities_mental_retardation_and_recurrent_inflammatory_episodes_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "hypertelorism_and_other_facial_dysmorphism,_brachydactyly,_genital_abnormalities,_mental_retardation,_and_recurrent_inflammatory_episodes", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0000768", + "label": "Pectus carinatum" + } + }, + { + "type": { + "id": "HP:0000349", + "label": "Widow's peak" + } + }, + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0001167", + "label": "Abnormal finger morphology" + } + }, + { + "type": { + "id": "HP:0200055", + "label": "Small hand" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614684", + "label": "Hypertelorism and other facial dysmorphism, brachydactyly, genital abnormalities, mental retardation, and recurrent inflammatory episodes" + } + } + ], + "metaData": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertelorism_microtia_facial_clefting_syndrome_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "hypertelorism,_microtia,_facial_clefting_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0004691", + "label": "2-3 toe syndactyly" + } + }, + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + }, + { + "type": { + "id": "HP:0002006", + "label": "Tessier cleft" + } + }, + { + "type": { + "id": "HP:0000160", + "label": "Narrow mouth" + } + }, + { + "type": { + "id": "HP:0000405", + "label": "Conductive hearing impairment" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0000455", + "label": "Broad nasal tip" + } + }, + { + "type": { + "id": "HP:0000204", + "label": "Cleft upper lip" + } + }, + { + "type": { + "id": "HP:0040195", + "label": "Decreased head circumference" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:239800", + "label": "Hypertelorism, microtia, facial clefting syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:58:51.227843Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertension_and_brachydactyly_syndrome_patient_1.json new file mode 100644 index 000000000..c29339e01 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertension_and_brachydactyly_syndrome_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "hypertension_and_brachydactyly_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032263", + "label": "Increased blood pressure" + } + }, + { + "type": { + "id": "HP:0005863", + "label": "Type E brachydactyly" + } + }, + { + "type": { + "id": "HP:0000839", + "label": "Pituitary dwarfism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:112410", + "label": "Hypertension and brachydactyly syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:45:55.976843Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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@@ +{ + "id": "hypertension,_early-onset,_autosomal_dominant,_with_severe_exacerbationin_pregnancy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003351", + "label": "Decreased circulating renin level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605115", + "label": "Hypertension, early-onset, autosomal dominant, with severe exacerbationin pregnancy" + } + } + ], + "metaData": { + "created": "2024-06-11T22:31:14.770063Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertension_essential_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertension_essential_patient_1.json new file mode 100644 index 000000000..abdd77aa1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertension_essential_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hypertension,_essential", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005117", + "label": "Elevated diastolic blood pressure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:145500", + "label": "Hypertension, essential" + } + } + ], + "metaData": { + "created": "2024-06-11T18:39:35.131257Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperthermia_cutaneous_with_headaches_and_nausea_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperthermia_cutaneous_with_headaches_and_nausea_patient_1.json new file mode 100644 index 000000000..0f32aee13 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperthermia_cutaneous_with_headaches_and_nausea_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hyperthermia,_cutaneous,_with_headaches_and_nausea", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002018", + "label": "Nausea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:145590", + "label": "Hyperthermia, cutaneous, with headaches and nausea" + } + } + ], + "metaData": { + "created": "2024-06-11T21:35:46.593807Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperthyroidism_familial_gestational_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperthyroidism_familial_gestational_patient_1.json new file mode 100644 index 000000000..26de7f509 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperthyroidism_familial_gestational_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "hyperthyroidism,_familial_gestational", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031506", + "label": "Increased circulating T4 concentration" + }, + "modifiers": [ + { + "id": "HP:0025221", + "label": "Triggered by pregnancy" + } + ] + }, + { + "type": { + "id": "HP:0011841", + "label": "Ventricular flutter" + }, + "modifiers": [ + { + "id": "HP:0025221", + "label": "Triggered by pregnancy" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603373", + "label": "Hyperthyroidism, familial gestational" + } + } + ], + "metaData": { + "created": "2024-06-11T21:24:47.211808Z", + "createdBy": "phenotype2phenopacket", + 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"patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001649", + "label": "Tachycardia" + } + }, + { + "type": { + "id": "HP:0000853", + "label": "Goiter" + } + }, + { + "type": { + "id": "HP:0000752", + "label": "Hyperactivity" + } + }, + { + "type": { + "id": "HP:0001622", + "label": "Premature birth" + } + }, + { + "type": { + "id": "HP:0031098", + "label": "Decreased thyroid-stimulating hormone level" + } + }, + { + "type": { + "id": "HP:0011788", + "label": "Increased circulating free T3" + } + }, + { + "type": { + "id": "HP:0005616", + "label": "Accelerated skeletal maturation" + } + }, + { + "type": { + "id": "HP:0001518", + "label": "Small for gestational age" + } + }, + { + "type": { + "id": "HP:0031506", + "label": "Increased circulating T4 concentration" + } + }, + { + "type": { + "id": "HP:0011786", + "label": "Thyrotoxicosis with toxic single thyroid nodule" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609152", + "label": "Hyperthyroidism, 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertrichosis_anterior_cervical_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hypertrichosis,_anterior_cervical", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004535", + "label": "Anterior cervical hypertrichosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600457", + "label": "Hypertrichosis, anterior cervical" + } + } + ], + "metaData": { + "created": "2024-06-11T21:55:45.617894Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertrichosis_congenital_anterior_cervical_with_peripheral_sensory_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertrichosis_congenital_anterior_cervical_with_peripheral_sensory_patient_1.json new file mode 100644 index 000000000..9a4b69346 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertrichosis_congenital_anterior_cervical_with_peripheral_sensory_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hypertrichosis,_congenital_anterior_cervical,_with_peripheral_sensory", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002754", + "label": "Osteomyelitis" + } + }, + { + "type": { + "id": "HP:0001595", + "label": "Abnormal hair morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:239840", + "label": 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertrichosis_congenital_generalized_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hypertrichosis,_congenital_generalized", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004540", + "label": "Congenital, generalized hypertrichosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:307150", + "label": "Hypertrichosis, congenital generalized" + } + } + ], + "metaData": { + "created": "2024-06-12T00:30:43.503403Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertrichosis_terminalis_generalized_with_or_without_gingival_hyperplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertrichosis_terminalis_generalized_with_or_without_gingival_hyperplasia_patient_1.json new file mode 100644 index 000000000..cb66bd9d3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertrichosis_terminalis_generalized_with_or_without_gingival_hyperplasia_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "hypertrichosis_terminalis,_generalized,_with_or_without_gingival_hyperplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0004540", + "label": "Congenital, generalized hypertrichosis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0004532", + "label": "Sacral hypertrichosis" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:135400", + "label": "Hypertrichosis terminalis, generalized, with or without gingival hyperplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:53:32.232321Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertrichosis_universalis_congenita_Ambras_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertrichosis_universalis_congenita_Ambras_type_patient_1.json new file mode 100644 index 000000000..dc0a29f45 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertrichosis_universalis_congenita_Ambras_type_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hypertrichosis_universalis_congenita,_ambras_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004540", + "label": "Congenital, generalized hypertrichosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:145701", + "label": "Hypertrichosis universalis congenita, Ambras type" + } + } + ], + "metaData": { + "created": "2024-06-11T19:07:26.866449Z", + "createdBy": "phenotype2phenopacket", + "resources": [ 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertriglyceridemia_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertriglyceridemia_familial_patient_1.json new file mode 100644 index 000000000..d5a408251 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertriglyceridemia_familial_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hypertriglyceridemia,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040075", + "label": "Hypopituitarism" + } + }, + { + "type": { + "id": "HP:0004416", + "label": "Precocious atherosclerosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:145750", + "label": "Hypertriglyceridemia, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:12.459787Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertrophia_musculorum_vera_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertrophia_musculorum_vera_patient_1.json new file mode 100644 index 000000000..09a06379c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertrophia_musculorum_vera_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hypertrophia_musculorum_vera", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008981", + "label": "Calf muscle hypertrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:145800", + "label": "Hypertrophia musculorum vera" + } + } + ], + "metaData": { + "created": "2024-06-11T21:23:29.764313Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertrophic_neuropathy_and_cataract_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertrophic_neuropathy_and_cataract_patient_1.json new file mode 100644 index 000000000..a9d88ae55 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertrophic_neuropathy_and_cataract_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hypertrophic_neuropathy_and_cataract", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:239900", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertrophic_neuropathy_of_dejerine_sottas_patient_1.json @@ -0,0 +1,159 @@ +{ + "id": "hypertrophic_neuropathy_of_dejerine-sottas", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001765", + "label": "Hammertoe" + } + }, + { + "type": { + "id": "HP:0002751", + "label": "Kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0001284", + "label": "Areflexia" + } + }, + { + "type": { + "id": "HP:0030175", + "label": "Myelin tomacula" + } + }, + { + "type": { + "id": "HP:0003701", + "label": "Proximal muscle weakness" + } + }, + { + "type": { + "id": "HP:0003431", + "label": "Decreased motor nerve conduction velocity" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0003481", + "label": "Segmental peripheral demyelination/remyelination" + } + }, + { + "type": { + "id": "HP:0001308", + "label": "Tongue fasciculations" + } + }, + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertrophic_osteoarthropathy_primary_autosomal_dominant_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "hypertrophic_osteoarthropathy,_primary,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030839", + "label": "Knee pain" + } + }, + { + "type": { + "id": "HP:0001072", + "label": "Thickened skin" + } + }, + { + "type": { + "id": "HP:0001061", + "label": "Acne" + } + }, + { + "type": { + "id": "HP:0100759", + "label": "Clubbing of fingers" + } + }, + { + "type": { + "id": "HP:0000975", + "label": "Hyperhidrosis" + } + }, + { + "type": { + "id": "HP:0010541", + "label": "Cutis gyrata of scalp" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:167100", + "label": "Hypertrophic osteoarthropathy, primary, autosomal dominant" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertrophic_osteoarthropathy_primary_autosomal_recessive_1_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "hypertrophic_osteoarthropathy,_primary,_autosomal_recessive_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010647", + "label": "Abnormal elasticity of skin" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + }, + { + "type": { + "id": "HP:0001519", + "label": "Disproportionate tall stature" + } + }, + { + "type": { + "id": "HP:0001376", + "label": "Limitation of joint mobility" + } + }, + { + "type": { + "id": "HP:0000938", + "label": "Osteopenia" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + } + ], + "diseases": [ + { + "term": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertrophic_osteoarthropathy_primary_autosomal_recessive_2_patient_1.json new file mode 100644 index 000000000..d9effb15e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertrophic_osteoarthropathy_primary_autosomal_recessive_2_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "hypertrophic_osteoarthropathy,_primary,_autosomal_recessive_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001061", + "label": "Acne" + } + }, + { + "type": { + "id": "HP:0001051", + "label": "Seborrheic dermatitis" + } + }, + { + "type": { + "id": "HP:0001072", + "label": "Thickened skin" + } + }, + { + "type": { + "id": "HP:0005208", + "label": "Secretory diarrhea" + } + }, + { + "type": { + "id": "HP:0030839", + "label": "Knee pain" + } + }, + { + "type": { + "id": "HP:0030314", + "label": "Periostosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614441", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypertryptophanemia_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "hypertryptophanemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003144", + "label": "Increased serum serotonin" + } + }, + { + "type": { + "id": "HP:0500134", + "label": "Hypertryptophanemia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0025268", + "label": "Stuttering" + } + }, + { + "type": { + "id": "HP:0100490", + "label": "Camptodactyly of finger" + } + }, + { + "type": { + "id": "HP:0000718", + "label": "Aggressive behavior" + } + }, + { + "type": { + "id": "HP:0002342", + "label": "Intellectual disability, moderate" + } + }, + { + "type": { + "id": "HP:0002761", + "label": "Generalized joint hypermobility" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": 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of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperuricemia_pulmonary_hypertension_renal_failure_and_alkalosis_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperuricemia_pulmonary_hypertension_renal_failure_and_alkalosis_syndrome_patient_1.json new file mode 100644 index 000000000..f6fa9123c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hyperuricemia_pulmonary_hypertension_renal_failure_and_alkalosis_syndrome_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "hyperuricemia,_pulmonary_hypertension,_renal_failure,_and_alkalosis_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000819", + "label": "Diabetes mellitus" + } + }, + { + "type": { + "id": "HP:0002878", + "label": "Respiratory failure" + } + }, + { + "type": { + "id": "HP:0002093", + "label": "Respiratory insufficiency" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypoadrenocorticism_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypoadrenocorticism_familial_patient_1.json new file mode 100644 index 000000000..740391f39 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypoadrenocorticism_familial_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "hypoadrenocorticism,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002013", + "label": "Vomiting" + } + }, + { + "type": { + "id": "HP:0001000", + "label": "Abnormality of skin pigmentation" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0012734", + "label": "Ketotic hypoglycemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:240200", + "label": "Hypoadrenocorticism, 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypoaldosteronism_congenital_due_to_CMO_II_deficiency_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "hypoaldosteronism,_congenital,_due_to_cmo_ii_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012112", + "label": "Abnormal circulating corticosterone level" + } + }, + { + "type": { + "id": "HP:0010930", + "label": "Abnormal blood monovalent inorganic cation concentration" + } + }, + { + "type": { + "id": "HP:0032362", + "label": "Increased circulating corticosterone level" + } + }, + { + "type": { + "id": "HP:0010930", + "label": "Abnormal blood monovalent inorganic cation concentration" + } + }, + { + "type": { + "id": "HP:0004319", + "label": "Decreased circulating aldosterone level" + } + }, + { + "type": { + "id": "HP:0008866", + "label": "Failure to thrive secondary to recurrent infections" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610600", + "label": 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000000000..386aa6c87 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypoalphalipoproteinemia_primary_2_intermediate_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hypoalphalipoproteinemia,_primary,_2,_intermediate", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003233", + "label": "Decreased HDL cholesterol concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619836", + "label": "Hypoalphalipoproteinemia, primary, 2, intermediate" + } + } + ], + "metaData": { + "created": "2024-06-11T22:47:02.177144Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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"id": "OMIM:605019", + "label": "Hypobetalipoproteinemia, familial, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:32:15.411005Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypocalcemia_autosomal_dominant_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypocalcemia_autosomal_dominant_1_patient_1.json new file mode 100644 index 000000000..a5f4b908b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypocalcemia_autosomal_dominant_1_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "hypocalcemia,_autosomal_dominant_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003394", + "label": "Muscle spasm" + } + }, + { + "type": { + "id": "HP:0002901", + "label": "Hypocalcemia" + } + }, + { + "type": { + "id": "HP:0001281", + "label": "Tetany" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0000121", + "label": "Nephrocalcinosis" + } + }, + { + "type": { + "id": "HP:0002905", + "label": "Hyperphosphatemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601198", + "label": "Hypocalcemia, autosomal dominant 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:59:28.735598Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615361", + "label": "Hypocalcemia, autosomal dominant 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:52:06.732807Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypocalciuric_hypercalcemia_familial_type_III_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypocalciuric_hypercalcemia_familial_type_III_patient_1.json new file mode 100644 index 000000000..fea8711d6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypocalciuric_hypercalcemia_familial_type_III_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "hypocalciuric_hypercalcemia,_familial,_type_iii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002749", + "label": "Osteomalacia" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0005017", + "label": "Polyarticular chondrocalcinosis" + } + }, + { + "type": { + "id": "HP:0004912", + "label": "Hypophosphatemic rickets" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600740", + "label": "Hypocalciuric hypercalcemia, familial, 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypocalciuric_hypercalcemia_familial_type_II_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "hypocalciuric_hypercalcemia,_familial,_type_ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001733", + "label": "Pancreatitis" + } + }, + { + "type": { + "id": "HP:0003127", + "label": "Hypocalciuria" + } + }, + { + "type": { + "id": "HP:0001012", + "label": "Multiple lipomas" + } + }, + { + "type": { + "id": "HP:0002918", + "label": "Hypermagnesemia" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0000843", + "label": "Hyperparathyroidism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:145981", + "label": "Hypocalciuric hypercalcemia, familial, type II" + } + } + ], + "metaData": { + "created": "2024-06-11T20:02:39.093837Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": 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{ + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002150", + "label": "Hypercalciuria" + } + }, + { + "type": { + "id": "HP:0003127", + "label": "Hypocalciuria" + } + }, + { + "type": { + "id": "HP:0011770", + "label": "Tertiary hyperparathyroidism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:145980", + "label": "Hypocalciuric hypercalcemia, familial, type I" + } + } + ], + "metaData": { + "created": "2024-06-11T19:57:25.875122Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypochondroplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypochondroplasia_patient_1.json new file mode 100644 index 000000000..b9b78dcfb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypochondroplasia_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "hypochondroplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008873", + "label": "Disproportionate short-limb short stature" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0000256", + "label": "Macrocephaly" + } + }, + { + "type": { + "id": "HP:0003026", + "label": "Short long bone" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0012679", + "label": "Widened interpedicular distance" + } + }, + { + "type": { + "id": "HP:0009815", + "label": "Aplasia/hypoplasia of the extremities" + } + }, + { + "type": { + "id": "HP:0002938", + "label": "Lumbar hyperlordosis" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0100864", + "label": "Short femoral neck" + } + }, + { + "type": { + "id": "HP:0001377", + "label": "Limited elbow extension" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:146000", + "label": "Hypochondroplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:37:14.976104Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + 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+ "diseases": [ + { + "term": { + "id": "OMIM:612776", + "label": "Hypoglossia with situs inversus" + } + } + ], + "metaData": { + "created": "2024-06-11T18:52:00.598808Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypoglycemia_of_infancy_leucine_sensitive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypoglycemia_of_infancy_leucine_sensitive_patient_1.json new file mode 100644 index 000000000..10ba44304 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypoglycemia_of_infancy_leucine_sensitive_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hypoglycemia_of_infancy,_leucine-sensitive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:240800", + "label": "Hypoglycemia of infancy, leucine-sensitive" + } + } + ], + "metaData": { + "created": "2024-06-11T22:55:07.829102Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadism_Cataract_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadism_Cataract_syndrome_patient_1.json new file mode 100644 index 000000000..997a91c60 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadism_Cataract_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hypogonadism-cataract_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000789", + "label": "Infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:240950", + "label": "Hypogonadism-Cataract syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:21:53.133474Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadism_male_with_mental_retardation_and_skeletal_anomalies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadism_male_with_mental_retardation_and_skeletal_anomalies_patient_1.json new file mode 100644 index 000000000..6aa602f8a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadism_male_with_mental_retardation_and_skeletal_anomalies_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hypogonadism,_male,_with_mental_retardation_and_skeletal_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002651", + "label": "Spondyloepimetaphyseal dysplasia" + } + }, + { + "type": { + "id": "HP:0000772", + "label": "Abnormal rib morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:307500", + "label": "Hypogonadism, male, with mental retardation and skeletal anomalies" + } + } + ], + "metaData": { + "created": "2024-06-11T20:28:23.789882Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadism_malehypogonadism_and_testicular_atrophy_included_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadism_malehypogonadism_and_testicular_atrophy_included_patient_1.json new file mode 100644 index 000000000..c3d4a9d99 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadism_malehypogonadism_and_testicular_atrophy_included_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hypogonadism,_malehypogonadism_and_testicular_atrophy,_included", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000029", + "label": "Testicular atrophy" + } + }, + { + "type": { + "id": "HP:0008736", + "label": "Hypoplasia of penis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:241100", + "label": "Hypogonadism, malehypogonadism and testicular atrophy, included" + } + } + ], + "metaData": { + "created": "2024-06-11T22:46:57.168391Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadism_primary_and_partial_alopecia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadism_primary_and_partial_alopecia_patient_1.json new file mode 100644 index 000000000..4ffbc6d48 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadism_primary_and_partial_alopecia_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hypogonadism,_primary,_and_partial_alopecia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010464", + "label": "Streak ovary" + } + }, + { + "type": { + "id": "HP:0004552", + "label": "Scarring alopecia of scalp" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:241090", + "label": "Hypogonadism, primary, and partial alopecia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:39:28.124570Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadism_with_low_grade_mental_deficiency_and_microcephaly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadism_with_low_grade_mental_deficiency_and_microcephaly_patient_1.json new file mode 100644 index 000000000..33da5a5dc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadism_with_low_grade_mental_deficiency_and_microcephaly_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "hypogonadism_with_low-grade_mental_deficiency_and_microcephaly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000026", + "label": "Male hypogonadism" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000027", + "label": "Azoospermia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:241000", + "label": "Hypogonadism with low-grade mental deficiency and microcephaly" + } + } + ], + "metaData": { + "created": "2024-06-11T21:35:47.945920Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadotropic_hypogonadism_10_with_or_without_anosmia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadotropic_hypogonadism_10_with_or_without_anosmia_patient_1.json new file mode 100644 index 000000000..d0d5c0c1f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadotropic_hypogonadism_10_with_or_without_anosmia_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "hypogonadotropic_hypogonadism_10_with_or_without_anosmia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000786", + "label": "Primary amenorrhea" + } + }, + { + "type": { + "id": "HP:0030344", + "label": "Decreased circulating luteinizing hormone level" + } + }, + { + "type": { + "id": "HP:0040171", + "label": "Decreased serum testosterone concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614839", + "label": "Hypogonadotropic hypogonadism 10 with or without anosmia" + } + } + ], + "metaData": { + "created": "2024-06-11T22:37:49.880658Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadotropic_hypogonadism_11_with_or_without_anosmia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadotropic_hypogonadism_11_with_or_without_anosmia_patient_1.json new file mode 100644 index 000000000..701514ad5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadotropic_hypogonadism_11_with_or_without_anosmia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hypogonadotropic_hypogonadism_11_with_or_without_anosmia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000786", + "label": "Primary amenorrhea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614840", + "label": "Hypogonadotropic hypogonadism 11 with or without anosmia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:11:13.098131Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadotropic_hypogonadism_14_with_or_without_anosmia_patient_1.json new file mode 100644 index 000000000..84ca884c5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadotropic_hypogonadism_14_with_or_without_anosmia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hypogonadotropic_hypogonadism_14_with_or_without_anosmia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614858", + "label": "Hypogonadotropic hypogonadism 14 with or without anosmia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:32:06.462Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadotropic_hypogonadism_15_with_or_without_anosmia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadotropic_hypogonadism_15_with_or_without_anosmia_patient_1.json new file mode 100644 index 000000000..e78c8baca --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadotropic_hypogonadism_15_with_or_without_anosmia_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "hypogonadotropic_hypogonadism_15_with_or_without_anosmia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000054", + "label": 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"https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadotropic_hypogonadism_16_with_or_without_anosmia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadotropic_hypogonadism_16_with_or_without_anosmia_patient_1.json new file mode 100644 index 000000000..a2a6b06ec --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadotropic_hypogonadism_16_with_or_without_anosmia_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "hypogonadotropic_hypogonadism_16_with_or_without_anosmia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000027", + "label": "Azoospermia" + } + }, + { + "type": { + "id": "HP:0030341", + "label": "Decreased circulating follicle stimulating hormone concentration" + } + }, + { + "type": { + "id": "HP:0008734", + "label": "Decreased testicular size" + } + }, 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadotropic_hypogonadism_17_with_or_without_anosmia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadotropic_hypogonadism_17_with_or_without_anosmia_patient_1.json new file mode 100644 index 000000000..d753380f3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadotropic_hypogonadism_17_with_or_without_anosmia_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hypogonadotropic_hypogonadism_17_with_or_without_anosmia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000938", + "label": "Osteopenia" + } + }, + { + "type": { + "id": "HP:0004409", + "label": "Hyposmia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615266", + "label": "Hypogonadotropic hypogonadism 17 with or without anosmia" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadotropic_hypogonadism_3_with_or_without_anosmia_patient_1.json new file mode 100644 index 000000000..26c90fccf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadotropic_hypogonadism_3_with_or_without_anosmia_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "hypogonadotropic_hypogonadism_3_with_or_without_anosmia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000786", + "label": "Primary amenorrhea" + } + }, + { + "type": { + "id": "HP:0000601", + "label": "Hypotelorism" + } + }, + { + "type": { + "id": "HP:0000767", + "label": "Pectus excavatum" + } + }, + { + "type": { + "id": "HP:0001335", + "label": "Bimanual synkinesia" + } + }, + { + "type": { + "id": "HP:0004409", + "label": "Hyposmia" + } + }, + { + "type": { + "id": "HP:0000054", + "label": "Micropenis" + } + }, + { + "type": { + "id": "HP:0000204", + "label": "Cleft upper lip" + } + }, + { + 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index 000000000..e249b6c55 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypogonadotropic_hypogonadism_9_with_or_without_anosmia_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "hypogonadotropic_hypogonadism_9_with_or_without_anosmia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011803", + "label": "Bifid nose" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0008734", + "label": "Decreased testicular size" + } + }, + { + "type": { + "id": "HP:0009921", + "label": "Duane anomaly" + } + }, + { + "type": { + "id": "HP:0000054", + "label": "Micropenis" + } + }, + { + "type": { + "id": "HP:0004409", + "label": "Hyposmia" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0004349", + "label": "Reduced bone mineral density" + } + }, + { + "type": { + "id": "HP:0031816", + "label": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypokalemic_alkalosis_familial_with_specific_renal_tubulopathy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypokalemic_alkalosis_familial_with_specific_renal_tubulopathy_patient_1.json new file mode 100644 index 000000000..88b6ad451 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypokalemic_alkalosis_familial_with_specific_renal_tubulopathy_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "hypokalemic_alkalosis,_familial,_with_specific_renal_tubulopathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004921", + "label": "Abnormal magnesium concentration" + } + }, + { + "type": { + "id": "HP:0000114", + "label": "Proximal tubulopathy" + } + }, + { + "type": { + "id": "HP:0002013", + "label": "Vomiting" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:241150", + "label": "Hypokalemic alkalosis, familial, with specific renal 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypokalemic_periodic_paralysis_type_1_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "hypokalemic_periodic_paralysis,_type_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003397", + "label": "Generalized hypotonia due to defect at the neuromuscular junction" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0012726", + "label": "Episodic hypokalemia" + } + }, + { + "type": { + "id": "HP:0003752", + "label": "Episodic flaccid weakness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:170400", + "label": "Hypokalemic periodic paralysis, type 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:11:56.996124Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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"type": { + "id": "HP:0003111", + "label": "Abnormal blood ion concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602014", + "label": "Hypomagnesemia 1, intestinal" + } + } + ], + "metaData": { + "created": "2024-06-11T18:33:14.039698Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypomagnesemia_2_renal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypomagnesemia_2_renal_patient_1.json new file mode 100644 index 000000000..a3599e851 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypomagnesemia_2_renal_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hypomagnesemia_2,_renal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005567", + "label": "Renal magnesium wasting" + } + }, + { + "type": { + "id": "HP:0002917", + "label": "Hypomagnesemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:154020", + "label": "Hypomagnesemia 2, renal" + } + } + ], + "metaData": { + "created": "2024-06-11T18:56:15.473371Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypomagnesemia_5_renal_with_or_without_ocular_involvement_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "hypomagnesemia_5,_renal,_with_or_without_ocular_involvement", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000121", + "label": "Nephrocalcinosis" + } + }, + { + "type": { + "id": "HP:0012608", + "label": "Hypermagnesiuria" + } + }, + { + "type": { + "id": "HP:0000483", + "label": "Astigmatism" + } + }, + { + "type": { + "id": "HP:0002150", + "label": "Hypercalciuria" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0005567", + "label": "Renal magnesium wasting" + } + }, + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + } + }, + { + "type": { + "id": "HP:0000705", + "label": "Amelogenesis imperfecta" + } + }, + { + "type": { + "id": "HP:0000479", + "label": "Abnormal 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypomagnesemia_6_renal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypomagnesemia_6_renal_patient_1.json new file mode 100644 index 000000000..e3479b657 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypomagnesemia_6_renal_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hypomagnesemia_6,_renal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033759", + "label": "Impaired renal tubular reabsorption of magnesium" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613882", + "label": "Hypomagnesemia 6, renal" + } + } + ], + "metaData": { + "created": "2024-06-11T23:30:06.840771Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypophosphatemic_rickets_X_linked_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypophosphatemic_rickets_X_linked_recessive_patient_1.json new file mode 100644 index 000000000..f9f9ef786 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypophosphatemic_rickets_X_linked_recessive_patient_1.json @@ -0,0 +1,140 @@ +{ + "id": "hypophosphatemic_rickets,_x-linked_recessive", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P51Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004912", + "label": "Hypophosphatemic rickets" + } + }, + { + "type": { + "id": "HP:0100531", + "label": "Wind-swept deformity of the knees" + } + }, + { + "type": { + "id": "HP:0003330", + "label": "Abnormal bone structure" + } + }, + { + "type": { + "id": "HP:0002979", + "label": "Bowing of the legs" + } + }, + { + "type": { + "id": 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+ } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300554", + "label": "Hypophosphatemic rickets, X-linked recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T19:10:32.134469Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypophosphatemic_rickets_and_hyperparathyroidism_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypophosphatemic_rickets_and_hyperparathyroidism_patient_1.json new file mode 100644 index 000000000..209886cde --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypophosphatemic_rickets_and_hyperparathyroidism_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "hypophosphatemic_rickets_and_hyperparathyroidism", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004912", + "label": "Hypophosphatemic rickets" + } + }, + { + "type": { + "id": "HP:0000117", + "label": "Renal phosphate wasting" + } + }, + { + "type": { + "id": "HP:0000897", + "label": "Rachitic rosary" + } + }, + { + "type": { + "id": "HP:0002148", + "label": "Hypophosphatemia" + } + }, + { + "type": { + "id": "HP:0008208", + "label": "Parathyroid hyperplasia" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0002748", + "label": "Rickets" + } + }, + { 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypophosphatemic_rickets_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..63237fb41 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypophosphatemic_rickets_autosomal_dominant_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "hypophosphatemic_rickets,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003155", + "label": "Elevated circulating alkaline phosphatase concentration" + } + }, + { + "type": { + "id": "HP:0002653", + "label": "Bone pain" + } + }, + { + "type": { + "id": "HP:0004912", + "label": "Hypophosphatemic rickets" + } + }, + { + "type": { + "id": "HP:0003324", + "label": "Generalized muscle weakness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:193100", + "label": "Hypophosphatemic rickets, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T21:43:16.636825Z", + "createdBy": 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+1,87 @@ +{ + "id": "hypophosphatemic_rickets,_autosomal_recessive,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002970", + "label": "Genu varum" + } + }, + { + "type": { + "id": "HP:0002750", + "label": "Delayed skeletal maturation" + } + }, + { + "type": { + "id": "HP:0003155", + "label": "Elevated circulating alkaline phosphatase concentration" + } + }, + { + "type": { + "id": "HP:0002857", + "label": "Genu valgum" + } + }, + { + "type": { + "id": "HP:0003109", + "label": "Hyperphosphaturia" + } + }, + { + "type": { + "id": "HP:0006334", + "label": "Hypoplasia of the primary teeth" + } + }, + { + "type": { + "id": "HP:0034348", + "label": "Subpulmonary stenosis" + } + }, + { + "type": { + "id": "HP:0004912", + "label": "Hypophosphatemic rickets" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613312", + "label": "Hypophosphatemic rickets, autosomal recessive, 2" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypophosphatemic_rickets_autosomal_recessive_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hypophosphatemic_rickets,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0001363", + "label": "Craniosynostosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:241520", + "label": "Hypophosphatemic rickets, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T19:09:57.271277Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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--- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypopigmentation_organomegaly_and_delayed_myelination_and_development_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "hypopigmentation,_organomegaly,_and_delayed_myelination_and_development", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002188", + "label": "Delayed CNS myelination" + } + }, + { + "type": { + "id": "HP:0001272", + "label": "Cerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0010862", + "label": "Delayed fine motor development" + } + }, + { + "type": { + "id": "HP:0001010", + "label": "Hypopigmentation of the skin" + } + }, + { + "type": { + "id": "HP:0002194", + "label": "Delayed gross motor development" + } + }, + { + "type": { + "id": "HP:0025665", + "label": "Extremely preterm birth" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0007429", + "label": "Few cafe-au-lait spots" + } + }, + { + "type": { + "id": "HP:0003502", + "label": "Mild short stature" + } + }, + { + "type": { + "id": "HP:0007598", + "label": "Bilateral single transverse palmar creases" + } + }, + { + "type": { + "id": "HP:0003397", + "label": "Generalized hypotonia due to defect at the neuromuscular junction" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0001438", + "label": "Abnormal abdomen morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618541", + "label": "Hypopigmentation, organomegaly, and delayed myelination and development" + } + } + ], + "metaData": { + "created": "2024-06-11T22:19:38.115647Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypoplastic_left_heart_syndrome_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hypoplastic_left_heart_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0004383", + "label": "Hypoplastic left heart" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614435", + "label": "Hypoplastic left heart syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:21:17.408249Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypoplastic_left_heart_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypoplastic_left_heart_syndrome_patient_1.json new file mode 100644 index 000000000..0c23c0cd3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypoplastic_left_heart_syndrome_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hypoplastic_left_heart_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004383", + "label": "Hypoplastic left heart" + } + }, + { + "type": { + "id": "HP:0031054", + "label": "Long segment coarctation of the aorta" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:241550", + "label": "Hypoplastic left heart syndrome" + } + } + ], + "metaData": { 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--- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypoprebetalipoproteinemia_acanthocytosis_retinitis_pigmentosa_and_pallidal_degeneration_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "hypoprebetalipoproteinemia,_acanthocytosis,_retinitis_pigmentosa,and_pallidal_degeneration", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001927", + "label": "Acanthocytosis" + } + }, + { + "type": { + "id": "HP:0002491", + "label": "Spasticity of facial muscles" + } + }, + { + "type": { + "id": "HP:0008181", + "label": "Abetalipoproteinemia" + } + }, + { + "type": { + "id": "HP:0007132", + "label": "Pallidal degeneration" + } + }, + { + "type": { + "id": "HP:0032505", + "label": "Hydrophobia" + } + }, + { + "type": { + "id": "HP:0100660", + "label": "Dyskinesia" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607236", + "label": "Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa,and pallidal degeneration" + } + } + ], + "metaData": { + "created": "2024-06-11T18:24:35.168391Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypospadias_1_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypospadias_1_X_linked_patient_1.json new file mode 100644 index 000000000..340651d46 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypospadias_1_X_linked_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hypospadias_1,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000051", + "label": "Perineal hypospadias" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300633", + "label": "Hypospadias 1, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T17:48:21.778147Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypospadias_2_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypospadias_2_X_linked_patient_1.json new file mode 100644 index 000000000..d8bf9a847 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypospadias_2_X_linked_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hypospadias_2,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000808", + "label": "Penoscrotal hypospadias" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300758", + "label": "Hypospadias 2, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T23:21:42.699196Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypospadias_3_autosomal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypospadias_3_autosomal_patient_1.json new file mode 100644 index 000000000..f9f8c7525 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypospadias_3_autosomal_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hypospadias_3,_autosomal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000047", + "label": "Hypospadias" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:146450", + "label": "Hypospadias 3, autosomal" + } + } + ], + "metaData": { + "created": "2024-06-11T21:02:11.684307Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotaurinemic_retinal_degeneration_and_cardiomyopathy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotaurinemic_retinal_degeneration_and_cardiomyopathy_patient_1.json new file mode 100644 index 000000000..75c9a7868 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotaurinemic_retinal_degeneration_and_cardiomyopathy_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hypotaurinemic_retinal_degeneration_and_cardiomyopathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030609", + "label": "Photoreceptor layer loss on macular OCT" + } + }, + { + "type": { + "id": "HP:0007994", + "label": "Peripheral visual field loss" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:145350", + "label": "Hypotaurinemic retinal degeneration and cardiomyopathy" + } + } + ], + "metaData": { + "created": "2024-06-11T21:54:54.188737Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypothyroidism_central_and_testicular_enlargement_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypothyroidism_central_and_testicular_enlargement_patient_1.json new file mode 100644 index 000000000..0fd15ec8f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypothyroidism_central_and_testicular_enlargement_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hypothyroidism,_central,_and_testicular_enlargement", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008202", + "label": "Reduced circulating prolactin concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300888", + "label": "Hypothyroidism, central, and testicular enlargement" + } + } + ], + "metaData": { + "created": "2024-06-11T19:27:04.170941Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypothyroidism_congenital_nongoitrous_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypothyroidism_congenital_nongoitrous_1_patient_1.json new file mode 100644 index 000000000..60ee60fe0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypothyroidism_congenital_nongoitrous_1_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hypothyroidism,_congenital,_nongoitrous,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002925", + "label": "Elevated circulating thyroid-stimulating hormone concentration" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:275200", + "label": "Hypothyroidism, congenital, nongoitrous, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:19:53.182793Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypothyroidism_congenital_nongoitrous_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypothyroidism_congenital_nongoitrous_2_patient_1.json new file mode 100644 index 000000000..fd117f1bd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypothyroidism_congenital_nongoitrous_2_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "hypothyroidism,_congenital,_nongoitrous,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0003270", + "label": "Abdominal distention" + } + }, + { + "type": { + "id": "HP:0004491", + "label": "Large posterior fontanelle" + } + }, + { + "type": { + "id": "HP:0001615", + "label": "Hoarse cry" + } + }, + { + "type": { + "id": "HP:0002925", + "label": "Elevated circulating thyroid-stimulating hormone concentration" + } + }, + { + "type": { + "id": "HP:0000821", + "label": "Hypothyroidism" + } + }, + { + "type": { + "id": "HP:0025484", + "label": "Increased circulating thyroglobulin concentration" + } + }, + { + "type": { + "id": "HP:0001254", + "label": "Lethargy" + } + }, + { + "type": { + "id": "HP:0031507", + "label": "Decreased circulating T4 concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:218700", + "label": "Hypothyroidism, congenital, nongoitrous, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:51:09.117259Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypothyroidism_congenital_nongoitrous_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypothyroidism_congenital_nongoitrous_4_patient_1.json new file mode 100644 index 000000000..0f1f3fb11 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypothyroidism_congenital_nongoitrous_4_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "hypothyroidism,_congenital,_nongoitrous,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0001615", + "label": "Hoarse cry" + } + }, + { + "type": { + "id": "HP:0031098", + "label": "Decreased thyroid-stimulating hormone level" + } + }, + { + "type": { + "id": "HP:0000821", + "label": "Hypothyroidism" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0008850", + "label": "Severe postnatal growth retardation" + } + }, + { + "type": { + "id": "HP:0000158", + "label": "Macroglossia" + } + }, + { + "type": { + "id": "HP:0000958", + "label": "Dry skin" + } + }, + { + "type": { + "id": "HP:0031508", + "label": "Abnormal circulating thyroid hormone concentration" + } + }, + { + "type": { + "id": "HP:0001551", + "label": "Abnormal umbilicus morphology" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:275100", + "label": "Hypothyroidism, congenital, nongoitrous, 4" + } + } + ], + "metaData": { + "created": "2024-06-12T01:59:11.317199Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypothyroidism_congenital_nongoitrous_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypothyroidism_congenital_nongoitrous_5_patient_1.json new file mode 100644 index 000000000..062d0fc6f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypothyroidism_congenital_nongoitrous_5_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "hypothyroidism,_congenital,_nongoitrous,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002925", + "label": "Elevated circulating thyroid-stimulating hormone concentration" + } + }, + { + "type": { + "id": "HP:0000821", + "label": "Hypothyroidism" + } + }, + { + "type": { + "id": "HP:0100030", + "label": "Accessory ectopic thyroid tissue" + } + }, + { + "type": { + "id": "HP:0000821", + "label": "Hypothyroidism" + } + }, + { + "type": { + "id": "HP:0033078", + "label": "Decreased circulating free T4 concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:225250", + "label": "Hypothyroidism, congenital, nongoitrous, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T23:48:28.780578Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypothyroidism_congenital_nongoitrous_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypothyroidism_congenital_nongoitrous_6_patient_1.json new file mode 100644 index 000000000..113b36164 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypothyroidism_congenital_nongoitrous_6_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "hypothyroidism,_congenital,_nongoitrous,_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001374", + "label": "Congenital hip dislocation" + } + }, + { + "type": { + "id": "HP:0001539", + "label": "Omphalocele" + } + }, + { + "type": { + "id": "HP:0000684", + "label": "Delayed eruption of teeth" + } + }, + { + "type": { + "id": "HP:0002136", + "label": "Broad-based gait" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0001615", + "label": "Hoarse cry" + } + }, + { + "type": { + "id": "HP:0000851", + "label": "Congenital hypothyroidism" + } + }, + { + "type": { + "id": "HP:0005505", + "label": "Refractory anemia" + } + }, + { + "type": { + "id": "HP:0012559", + "label": "Increased T3/T4 ratio" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614450", + "label": "Hypothyroidism, congenital, nongoitrous, 6" + } + } + ], + "metaData": { + "created": "2024-06-11T23:09:53.727639Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": 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"subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0033080", + "label": "Abnormal TSH response to thyrotrophin-releasing hormone stimulation test" + } + }, + { + "type": { + "id": "HP:0031507", + "label": "Decreased circulating T4 concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618573", + "label": "Hypothyroidism, congenital, nongoitrous, 7" + } + } + ], + "metaData": { + "created": "2024-06-11T20:09:04.993893Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypothyroidism_congenital_nongoitrous_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypothyroidism_congenital_nongoitrous_8_patient_1.json new file mode 100644 index 000000000..184d89671 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypothyroidism_congenital_nongoitrous_8_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "hypothyroidism,_congenital,_nongoitrous,_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002019", + "label": "Constipation" + } + }, + { + "type": { + "id": "HP:0031987", + "label": "Diminished ability to concentrate" + } + }, + { + "type": { + "id": "HP:0000869", + "label": "Secondary amenorrhea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301033", 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+++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypothyroidism_congenital_nongoitrous_9_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hypothyroidism,_congenital,_nongoitrous,_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011772", + "label": "Abnormal thyroid morphology" + } + }, + { + "type": { + "id": "HP:0008848", + "label": "Moderately short stature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301035", + "label": "Hypothyroidism, congenital, nongoitrous, 9" + } + } + ], + "metaData": { + "created": "2024-06-11T21:47:37.599819Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotonia_infantile_with_psychomotor_retardation_and_characteristic_facies_3_patient_1.json new file mode 100644 index 000000000..a5ddebf11 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotonia_infantile_with_psychomotor_retardation_and_characteristic_facies_3_patient_1.json @@ -0,0 +1,213 @@ +{ + "id": "hypotonia,_infantile,_with_psychomotor_retardation_and_characteristic_facies_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002093", + "label": "Respiratory insufficiency" + } + }, + { + "type": { + "id": "HP:0011471", + "label": "Gastrostomy tube feeding in infancy" + } + }, + { + "type": { + "id": "HP:0002263", + "label": "Exaggerated cupid's bow" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000426", + "label": "Prominent nasal bridge" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotonia_infantile_with_psychomotor_retardation_patient_1.json new file mode 100644 index 000000000..056ae8c6c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotonia_infantile_with_psychomotor_retardation_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "hypotonia,_infantile,_with_psychomotor_retardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0002058", + "label": "Myopathic facies" + } + }, + { + "type": { + "id": "HP:0006829", + "label": "Severe muscular hypotonia" + } + }, + { + "type": { + "id": "HP:0001989", + "label": "Fetal akinesia sequence" + } + }, + { + "type": { + "id": "HP:0000032", + "label": "Abnormal male external genitalia morphology" + } + }, + { + "type": { + "id": "HP:0006897", + "label": "Abducens palsy" + } + } + ], + "diseases": [ + { + "term": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_10_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "hypotrichosis_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002209", + "label": "Sparse scalp hair" + } + }, + { + "type": { + "id": "HP:0007776", + "label": "Sparse lower eyelashes" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614238", + "label": "Hypotrichosis 10" + } + } + ], + "metaData": { + "created": "2024-06-11T20:34:21.882601Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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--git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_15_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_15_patient_1.json new file mode 100644 index 000000000..a9050769a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_15_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hypotrichosis_15", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002209", + "label": "Sparse scalp hair" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620177", + "label": "Hypotrichosis 15" + } + } + ], + "metaData": { + "created": "2024-06-11T20:23:34.215732Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_3_patient_1.json new file mode 100644 index 000000000..90ad87450 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hypotrichosis_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002209", + "label": "Sparse scalp hair" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613981", + "label": "Hypotrichosis 3" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:29.265722Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_5_patient_1.json new file mode 100644 index 000000000..9598b814f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_5_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hypotrichosis_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0045074", + "label": "Thin eyebrow" + } + }, + { + "type": { + "id": "HP:0002221", + "label": "Absent axillary hair" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612841", + "label": "Hypotrichosis 5" + } + } + ], + "metaData": { + "created": "2024-06-11T19:31:37.837979Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + 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"label": "Sparse eyebrow" + } + }, + { + "type": { + "id": "HP:0000989", + "label": "Pruritus" + } + }, + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + }, + { + "type": { + "id": "HP:0004779", + "label": "Brittle scalp hair" + } + }, + { + "type": { + "id": "HP:0001595", + "label": "Abnormal hair morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607903", + "label": "Hypotrichosis 6" + } + } + ], + "metaData": { + "created": "2024-06-11T19:58:10.167495Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_7_patient_1.json new file mode 100644 index 000000000..cd6178383 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_7_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "hypotrichosis_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002299", + "label": "Brittle hair" + } + }, + { + "type": { + "id": "HP:0002231", + "label": "Sparse body hair" + } + }, + { + "type": { + "id": "HP:0000653", + "label": "Sparse eyelashes" + } + }, + { + "type": { + "id": "HP:0002215", + "label": "Sparse axillary hair" + } + }, + { + "type": { + "id": "HP:0025249", + "label": "Comedo" + } + }, + { + "type": { + "id": "HP:0002224", + "label": "Woolly hair" + } + }, + { + "type": { + "id": "HP:0005338", + "label": "Sparse lateral eyebrow" + } + }, + { + "type": { + "id": "HP:0004768", + "label": "Sparse anterior scalp hair" + } + }, + { + "type": { + "id": "HP:0007464", + "label": "Sparse facial hair" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604379", + "label": "Hypotrichosis 7" + } + } + ], + "metaData": { + "created": "2024-06-11T21:48:55.843141Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_8_patient_1.json new file mode 100644 index 000000000..fe6a9fbaa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_8_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "hypotrichosis_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002208", + "label": "Coarse hair" + } + }, + { + "type": { + "id": "HP:0002164", + "label": "Nail dysplasia" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0011359", + "label": "Dry hair" + } + }, + { + "type": { + "id": "HP:0100840", + "label": "Aplasia/Hypoplasia of the eyebrow" + } + }, + { + "type": { + "id": "HP:0004768", + "label": "Sparse anterior scalp hair" + } + }, + { + "type": { + "id": "HP:0040149", + "label": "Woolly scalp hair" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:278150", + "label": "Hypotrichosis 8" + } + } + ], + "metaData": { + "created": "2024-06-11T22:48:08.121887Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_9_patient_1.json new file mode 100644 index 000000000..e7e6a89b5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_9_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hypotrichosis_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002209", + "label": "Sparse scalp hair" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614237", + "label": "Hypotrichosis 9" + } + } + ], + "metaData": { + "created": "2024-06-11T21:19:35.191995Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_Lymphedema_Telangiectasia_Renal_defect_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_Lymphedema_Telangiectasia_Renal_defect_syndrome_patient_1.json new file mode 100644 index 000000000..d332353cf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_Lymphedema_Telangiectasia_Renal_defect_syndrome_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "hypotrichosis-lymphedema-telangiectasia-renal_defect_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000561", + "label": "Absent eyelashes" + } + }, + { + "type": { + "id": "HP:0000426", + "label": "Prominent nasal bridge" + } + }, + { + "type": { + "id": "HP:0000095", + "label": "Abnormal renal glomerulus morphology" + } + }, + { + "type": { + "id": "HP:0002209", + "label": "Sparse scalp hair" + } + }, + { + "type": { + "id": "HP:0000083", + "label": "Renal insufficiency" + } + }, + { + "type": { + "id": "HP:0000653", + "label": "Sparse eyelashes" + } + }, + { + "type": { + "id": "HP:0007543", + "label": "Epidermal hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0001004", + "label": "Lymphedema" + } + }, + { + "type": { + "id": "HP:0000286", + "label": "Epicanthus" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0003189", + "label": "Long nose" + } + }, + { + "type": { + "id": "HP:0002223", + "label": "Absent eyebrow" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:137940", + "label": "Hypotrichosis-Lymphedema-Telangiectasia-Renal defect syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:52:22.316812Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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{ + "type": { + "id": "HP:0008066", + "label": "Abnormal blistering of the skin" + } + }, + { + "type": { + "id": "HP:0200037", + "label": "Skin vesicle" + } + }, + { + "type": { + "id": "HP:0002231", + "label": "Sparse body hair" + } + }, + { + "type": { + "id": "HP:0007776", + "label": "Sparse lower eyelashes" + } + }, + { + "type": { + "id": "HP:0025122", + "label": "Sawtooth acanthosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613102", + "label": "Hypotrichosis and recurrent skin vesicles" + } + } + ], + "metaData": { + "created": "2024-06-11T22:41:53.255264Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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"namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_lymphedema_telangiectasia_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_lymphedema_telangiectasia_syndrome_patient_1.json new file mode 100644 index 000000000..be2f97f84 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypotrichosis_lymphedema_telangiectasia_syndrome_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "hypotrichosis-lymphedema-telangiectasia_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002209", + "label": "Sparse scalp hair" + } + }, + { + "type": { + "id": "HP:0003550", + "label": "Predominantly lower limb lymphedema" + } + }, + { + "type": { + "id": "HP:0100540", + "label": "Palpebral edema" + } + }, + { + "type": { + "id": 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"https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypouricemia_familial_renal_due_to_tubular_hypersecretion_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypouricemia_familial_renal_due_to_tubular_hypersecretion_patient_1.json new file mode 100644 index 000000000..d118eb588 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypouricemia_familial_renal_due_to_tubular_hypersecretion_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hypouricemia,_familial_renal,_due_to_tubular_hypersecretion", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003537", + "label": "Hypouricemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:307830", + "label": "Hypouricemia, familial renal, due to tubular hypersecretion" + } + } + ], + "metaData": { + "created": "2024-06-11T19:01:09.529911Z", 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypouricemia_hypercalcinuria_and_decreased_bone_density_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "hypouricemia,_hypercalcinuria,_and_decreased_bone_density", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003537", + "label": "Hypouricemia" + } + }, + { + "type": { + "id": "HP:0009763", + "label": "Limb pain" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:242050", + "label": "Hypouricemia, hypercalcinuria, and decreased bone density" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:38.623801Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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"type": { + "id": "HP:0430071", + "label": "Abnormal circulating organic compound concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:220150", + "label": "Hypouricemia, renal, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:56:00.737972Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypouricemia_renal_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypouricemia_renal_2_patient_1.json new file mode 100644 index 000000000..6cf25f047 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Hypouricemia_renal_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "hypouricemia,_renal,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003537", + "label": "Hypouricemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612076", + "label": "Hypouricemia, renal, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:09:22.971802Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/IMINOGLYCINURIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/IMINOGLYCINURIA_patient_1.json new file mode 100644 index 000000000..f57f2889f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/IMINOGLYCINURIA_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "iminoglycinuria", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000478", + "label": "Abnormality of the eye" + } + }, + { + "type": { + "id": "HP:0003080", + "label": "Hydroxyprolinuria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:242600", + "label": "IMINOGLYCINURIA" + } + } + ], + "metaData": { + "created": "2024-06-11T18:30:33.061679Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/INTERLEUKIN_1_DEFECTIVE_T_CELL_RESPONSE_TO_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/INTERLEUKIN_1_DEFECTIVE_T_CELL_RESPONSE_TO_patient_1.json new file mode 100644 index 000000000..0a6e0f0c3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/INTERLEUKIN_1_DEFECTIVE_T_CELL_RESPONSE_TO_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "interleukin_1,_defective_t-cell_response_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006532", + "label": "Recurrent pneumonia" + } + }, + { + "type": { + 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newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosiform_erythroderma_corneal_involvement_and_deafness_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosiform_erythroderma_corneal_involvement_and_deafness_patient_1.json new file mode 100644 index 000000000..7b18fb1f4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosiform_erythroderma_corneal_involvement_and_deafness_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "ichthyosiform_erythroderma,_corneal_involvement,_and_deafness", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + }, + { + "type": { + "id": "HP:0011967", + "label": "Decreased circulating copper concentration" + } + }, + { + "type": { + "id": "HP:0010996", + "label": "Abnormal circulating monocarboxylic acid concentration" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:242150", + "label": "Ichthyosiform erythroderma, corneal involvement, and deafness" + } + } + ], + "metaData": { + "created": "2024-06-11T23:05:14.305220Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_Bullous_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_Bullous_type_patient_1.json new file mode 100644 index 000000000..c2baeb382 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_Bullous_type_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ichthyosis,_bullous_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007475", + "label": "Congenital bullous ichthyosiform erythroderma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:146800", + "label": "Ichthyosis, Bullous type" + } + } + ], + "metaData": { + "created": "2024-06-11T18:37:57.282679Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_Mental_retardation_syndrome_with_large_keratohyalin_granules_in_the_skin_patient_1.json new file mode 100644 index 000000000..bd64929ff --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_Mental_retardation_syndrome_with_large_keratohyalin_granules_in_the_skin_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ichthyosis-mental_retardation_syndrome_with_large_keratohyalin_granules_in_the_skin", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601039", + "label": "Ichthyosis-Mental retardation syndrome with large keratohyalin granules in the skin" + } + } + ], + "metaData": { + "created": "2024-06-11T22:35:35.981749Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_congenital_autosomal_recessive_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_congenital_autosomal_recessive_10_patient_1.json new file mode 100644 index 000000000..e40d78e5d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_congenital_autosomal_recessive_10_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "ichthyosis,_congenital,_autosomal_recessive_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000982", + "label": "Palmoplantar keratoderma" + } + }, + { + "type": { + "id": "HP:0007479", + "label": "Congenital nonbullous ichthyosiform erythroderma" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615024", + "label": "Ichthyosis, congenital, autosomal recessive 10" + } + } + ], 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+++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_congenital_autosomal_recessive_4A_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "ichthyosis,_congenital,_autosomal_recessive_4a", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007479", + "label": "Congenital nonbullous ichthyosiform erythroderma" + } + }, + { + "type": { + "id": "HP:0007651", + "label": "Ectropion of lower eyelids" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601277", + "label": "Ichthyosis, congenital, autosomal recessive 4A" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:38.246837Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_hepatosplenomegaly_and_cerebellar_degeneration_patient_1.json new file mode 100644 index 000000000..0acdd7dc7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_hepatosplenomegaly_and_cerebellar_degeneration_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ichthyosis,_hepatosplenomegaly,_and_cerebellar_degeneration", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008064", + "label": "Ichthyosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:242520", + "label": "Ichthyosis, hepatosplenomegaly, and cerebellar degeneration" + } + } + ], + "metaData": { + "created": "2024-06-11T21:41:31.792384Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_hystrix_gravior_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_hystrix_gravior_patient_1.json new file mode 100644 index 000000000..0501db2fa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_hystrix_gravior_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ichthyosis_hystrix_gravior", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025080", + "label": "Orthokeratotic hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:146600", + "label": "Ichthyosis hystrix gravior" + } + } + ], + "metaData": { + "created": "2024-06-11T22:45:46.818169Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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"patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000989", + "label": "Pruritus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:146750", + "label": "Ichthyosis, lamellar, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T19:03:18.087214Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_leukocyte_vacuoles_alopecia_and_sclerosing_cholangitis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_leukocyte_vacuoles_alopecia_and_sclerosing_cholangitis_patient_1.json new file mode 100644 index 000000000..a077d0375 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_leukocyte_vacuoles_alopecia_and_sclerosing_cholangitis_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "ichthyosis,_leukocyte_vacuoles,_alopecia,_and_sclerosing_cholangitis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000668", + "label": "Hypodontia" + } + }, + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + }, + { + "type": { + "id": "HP:0000682", + "label": "Abnormal dental enamel morphology" + } + }, + { + "type": { + "id": "HP:0001409", + "label": "Portal hypertension" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0030991", + "label": "Sclerosing cholangitis" + } + }, + { + "type": { + "id": "HP:0410042", + "label": "Abnormal liver morphology" + } + }, + { + "type": { + "id": "HP:0000989", + "label": "Pruritus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607626", + "label": "Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis" + } + } + ], + "metaData": { + "created": "2024-06-11T18:31:09.345281Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_mental_retardation_dwarfism_and_renal_impairment_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_mental_retardation_dwarfism_and_renal_impairment_patient_1.json new file mode 100644 index 000000000..787890001 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_mental_retardation_dwarfism_and_renal_impairment_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "ichthyosis,_mental_retardation,_dwarfism,_and_renal_impairment", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000112", + "label": "Nephropathy" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0007479", + "label": "Congenital nonbullous ichthyosiform erythroderma" + } + }, + { + "type": { + "id": "HP:0003259", + "label": "Elevated circulating creatinine concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:242530", + "label": "Ichthyosis, mental retardation, dwarfism, and renal impairment" + } + } + ], + "metaData": { + "created": "2024-06-11T21:59:06.690430Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_prematurity_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_prematurity_syndrome_patient_1.json new file mode 100644 index 000000000..6e1198291 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_prematurity_syndrome_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "ichthyosis_prematurity_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030161", + "label": "Vaginal pruritus" + } + }, + { + "type": { + "id": "HP:0011276", + "label": "Vascular skin abnormality" + } + }, + { + "type": { + "id": "HP:0011368", + "label": "Epidermal thickening" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608649", + "label": "Ichthyosis prematurity syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T17:49:59.439527Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_spastic_quadriplegia_and_mental_retardation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_spastic_quadriplegia_and_mental_retardation_patient_1.json new file mode 100644 index 000000000..3228abe2d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_spastic_quadriplegia_and_mental_retardation_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "ichthyosis,_spastic_quadriplegia,_and_mental_retardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000962", + "label": "Hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0040189", + "label": "Scaling skin" + } + }, + { + "type": { + "id": "HP:0000649", + "label": "Abnormality of visual evoked potentials" + } + }, + { + "type": { + "id": "HP:0000958", + "label": "Dry skin" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0002510", + "label": "Spastic tetraplegia" + } + }, + { + "type": { + "id": "HP:0031291", + "label": "Ichthyosis follicularis" + } + }, + { + "type": { + "id": "HP:0006895", + "label": "Lower limb hypertonia" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0011276", + "label": "Vascular skin abnormality" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0002011", + "label": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_split_hairs_and_amino_aciduria_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_split_hairs_and_amino_aciduria_patient_1.json new file mode 100644 index 000000000..5ebc3d3b3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_split_hairs_and_amino_aciduria_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "ichthyosis,_split_hairs,_and_amino_aciduria", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001595", + "label": "Abnormal hair morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:242550", + "label": "Ichthyosis, split hairs, and amino aciduria" + } + } + ], + "metaData": { + "created": "2024-06-12T00:50:40.331048Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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"Keratosis pilaris" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0033807", + "label": "Absent keratohyalin granules" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:146700", + "label": "Ichthyosis vulgaris" + } + } + ], + "metaData": { + "created": "2024-06-11T21:34:44.399712Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_with_alopecia_eclabion_ectropion_and_mental_retardation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_with_alopecia_eclabion_ectropion_and_mental_retardation_patient_1.json new file mode 100644 index 000000000..834af9459 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_with_alopecia_eclabion_ectropion_and_mental_retardation_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "ichthyosis_with_alopecia,_eclabion,_ectropion,_and_mental_retardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000492", + "label": "Abnormal eyelid morphology" + } + }, + { + "type": { + "id": "HP:0000232", + "label": "Everted lower lip vermilion" + } + }, + { + "type": { + "id": "HP:0001595", + "label": "Abnormal hair morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:242510", + "label": "Ichthyosis with alopecia, eclabion, ectropion, and mental retardation" + } + } + ], + "metaData": { + "created": "2024-06-11T20:32:19.911730Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_with_erythrokeratoderma_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_with_erythrokeratoderma_patient_1.json new file mode 100644 index 000000000..7dcb35ab2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyosis_with_erythrokeratoderma_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "ichthyosis_with_erythrokeratoderma", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100871", + "label": "Abnormal palm morphology" + } + }, + { + "type": { + "id": "HP:0011368", + "label": "Epidermal thickening" + } + }, + { + "type": { + "id": "HP:0025525", + "label": "Scaling skin on fingertip" + } + }, + { + "type": { + "id": "HP:0007479", + "label": "Congenital nonbullous ichthyosiform erythroderma" + } + }, + { + "type": { + "id": "HP:0012647", + "label": "Abnormal inflammatory response" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0000989", + "label": "Pruritus" + } + }, + { + "type": { + "id": "HP:0010765", + "label": "Palmar hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620507", + "label": "Ichthyosis with erythrokeratoderma" + } + } + ], + "metaData": { + "created": "2024-06-11T18:58:39.106038Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyotic_keratoderma_spasticity_hypomyelination_and_dysmorphic_facial_features_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyotic_keratoderma_spasticity_hypomyelination_and_dysmorphic_facial_features_patient_1.json new file mode 100644 index 000000000..dd32e5bad --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ichthyotic_keratoderma_spasticity_hypomyelination_and_dysmorphic_facial_features_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "ichthyotic_keratoderma,_spasticity,_hypomyelination,_and_dysmorphic_facial_features", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001258", + "label": "Spastic paraplegia" + } + }, + { + "type": { + "id": "HP:0001583", + "label": "Rotary nystagmus" + } + }, + { + "type": { + "id": "HP:0000956", + "label": "Acanthosis nigricans" + } + }, + { + "type": { + "id": "HP:0001337", + "label": "Tremor" + } + }, + { + "type": { + "id": "HP:0001310", + "label": "Dysmetria" + } + }, + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0003429", + "label": "CNS hypomyelination" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0008064", + "label": "Ichthyosis" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0025122", + "label": "Sawtooth acanthosis" + } + }, + { + "type": { + "id": "HP:0500087", + "label": "Peripapillary atrophy" + } + }, + { + "type": { + "id": "HP:0000217", + "label": "Xerostomia" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618527", + "label": "Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features" + } + } + ], + "metaData": { + "created": "2024-06-11T22:45:18.318791Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/IgA_NEPHROPATHY_SUSCEPTIBILITY_TO_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/IgA_NEPHROPATHY_SUSCEPTIBILITY_TO_1_patient_1.json new file mode 100644 index 000000000..86e47176e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/IgA_NEPHROPATHY_SUSCEPTIBILITY_TO_1_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "iga_nephropathy,_susceptibility_to,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000123", + "label": "Nephritis" + } + }, + { + "type": { + "id": "HP:0000979", + "label": "Purpura" + } + }, + { + "type": { + "id": "HP:0000822", + "label": "Hypertension" + } + }, + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + } + }, + { + "type": { + "id": "HP:0000794", + "label": "IgA deposition in the glomerulus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:161950", + "label": "IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:39:55.004869Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/IgA_NEPHROPATHY_SUSCEPTIBILITY_TO_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/IgA_NEPHROPATHY_SUSCEPTIBILITY_TO_2_patient_1.json new file mode 100644 index 000000000..207c153c1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/IgA_NEPHROPATHY_SUSCEPTIBILITY_TO_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "iga_nephropathy,_susceptibility_to,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000790", + "label": "Hematuria" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613944", + "label": "IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:29:39.066788Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Iga_nephropathy_susceptibility_to_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Iga_nephropathy_susceptibility_to_3_patient_1.json new file mode 100644 index 000000000..cb4c944f0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Iga_nephropathy_susceptibility_to_3_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "iga_nephropathy,_susceptibility_to,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002907", + "label": "Microscopic hematuria" + } + }, + { + "type": { + "id": "HP:0003126", + "label": "Low-molecular-weight proteinuria" + } + }, + { + "type": { + "id": "HP:0000794", + "label": "IgA deposition in the glomerulus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616818", + "label": "Iga nephropathy, susceptibility to, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:35:55.004969Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ige_responsiveness_atopic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ige_responsiveness_atopic_patient_1.json new file mode 100644 index 000000000..347b3932a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ige_responsiveness_atopic_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "ige_responsiveness,_atopic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003193", + "label": "Allergic rhinitis" + } + }, + { + "type": { + "id": "HP:0003212", + "label": "Increased circulating IgE level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:147050", + "label": "Ige responsiveness, atopic" + } + } + ], + "metaData": { + "created": "2024-06-11T23:29:24.425152Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Imagawa_Matsumoto_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Imagawa_Matsumoto_syndrome_patient_1.json new file mode 100644 index 000000000..96108f251 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Imagawa_Matsumoto_syndrome_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "imagawa-matsumoto_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012385", + "label": "Camptodactyly" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0001176", + "label": "Large hands" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0012811", + "label": "Wide nasal ridge" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618786", + "label": "Imagawa-Matsumoto syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:29:36.615694Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Imerslund_Grasbeck_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Imerslund_Grasbeck_syndrome_2_patient_1.json new file mode 100644 index 000000000..7533b4b53 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Imerslund_Grasbeck_syndrome_2_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "imerslund-grasbeck_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000093", + "label": "Proteinuria" + } + }, + { + "type": { + "id": "HP:0100502", + "label": "Decreased circulating vitamin B12 concentration" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0005505", + "label": "Refractory anemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618882", + "label": "Imerslund-Grasbeck syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:22:40.499519Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immune_defect_due_to_absence_of_thymus_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immune_defect_due_to_absence_of_thymus_patient_1.json new file mode 100644 index 000000000..6d3e70788 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immune_defect_due_to_absence_of_thymus_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "immune_defect_due_to_absence_of_thymus", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005403", + "label": "T lymphocytopenia" + } + }, + { + "type": { + "id": "HP:0006532", + "label": "Recurrent pneumonia" + } + }, + { + "type": { + "id": "HP:0011371", + "label": "Recurrent viral skin infections" + } + }, + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + }, + { + "type": { + "id": "HP:0031545", + "label": "Abnormally low T cell receptor excision circle level" + } + }, + { + "type": { + "id": "HP:0008165", + "label": "Decreased helper T cell proportion" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:242700", + "label": "Immune defect due to absence of thymus" + } + } + ], + "metaData": { + "created": "2024-06-11T19:36:13.586245Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immune_deficiency_familial_variable_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immune_deficiency_familial_variable_patient_1.json new file mode 100644 index 000000000..b34fae7b9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immune_deficiency_familial_variable_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "immune_deficiency,_familial_variable", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002720", + "label": "Decreased circulating IgA level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:146830", + "label": "Immune deficiency, familial variable" + } + } + ], + "metaData": { + "created": "2024-06-11T23:11:18.892130Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immune_dysregulation_autoimmunity_and_autoinflammation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immune_dysregulation_autoimmunity_and_autoinflammation_patient_1.json new file mode 100644 index 000000000..216f9efa9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immune_dysregulation_autoimmunity_and_autoinflammation_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "immune_dysregulation,_autoimmunity,_and_autoinflammation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033178", + "label": "Increased circulating interleukin 8 concentration" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + }, + { + "type": { + "id": "HP:0033331", + "label": "Acute phase response" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620514", + "label": "Immune dysregulation, autoimmunity, and autoinflammation" + } + } + ], + "metaData": { + "created": "2024-06-11T18:30:35.059863Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immune_suppression_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immune_suppression_patient_1.json new file mode 100644 index 000000000..453b29204 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immune_suppression_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "immune_suppression", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002715", + "label": "Abnormality of the immune system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:146850", + "label": "Immune suppression" + } + } + ], + "metaData": { + "created": "2024-06-11T21:06:25.270382Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_101_varicella_zoster_virus_specific__patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_101_varicella_zoster_virus_specific__patient_1.json new file mode 100644 index 000000000..a2b9a4023 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_101_varicella_zoster_virus_specific__patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "immunodeficiency_101_(varicella_zoster_virus-specific)", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P19Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034319", + "label": "CNS vasculitis with reactivation of varicella-zoster virus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619872", + "label": "Immunodeficiency 101 (varicella zoster virus-specific)" + } + } + ], + "metaData": { + "created": "2024-06-11T20:20:28.110514Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_102_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_102_patient_1.json new file mode 100644 index 000000000..df6882676 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_102_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "immunodeficiency_102", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034249", + "label": "Severe influenza infection" + } + }, + { + "type": { + "id": "HP:0030783", + "label": "Increased circulating interleukin 6 concentration" + } + }, + { + "type": { + "id": "HP:0011108", + "label": "Recurrent sinusitis" + } + }, + { + "type": { + "id": "HP:0410301", + "label": "Partial absence of specific antibody response to unconjugated pneumococcus vaccine" + } + }, + { + "type": { + "id": "HP:0010976", + "label": "B lymphocytopenia" + } + }, + { + "type": { + "id": "HP:0001973", + "label": "Autoimmune thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0011109", + "label": "Chronic sinusitis" + } + }, + { + "type": { + "id": "HP:0002257", + "label": "Chronic rhinitis" + } + }, + { + "type": { + "id": "HP:0001882", + "label": "Leukopenia" + } + }, + { + "type": { + "id": "HP:0410378", + "label": "Decreased proportion of naive CD4 T cells" + } + }, + { + "type": { + "id": "HP:0002720", + "label": "Decreased circulating IgA level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301082", + "label": "Immunodeficiency 102" + } + } + ], + "metaData": { + "created": "2024-06-11T23:05:53.885358Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_107_susceptibility_to_invasive_staphylococcus_aureus_infection_patient_1.json new file mode 100644 index 000000000..d9bd7534b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_107_susceptibility_to_invasive_staphylococcus_aureus_infection_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "immunodeficiency_107,_susceptibility_to_invasive_staphylococcus_aureus_infection", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031292", + "label": "Cutaneous abscess" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619986", + "label": "Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection" + } + } + ], + "metaData": { + "created": "2024-06-11T23:48:43.072999Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_14_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "immunodeficiency_14", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005403", + "label": "T lymphocytopenia" + } + }, + { + "type": { + "id": "HP:0012476", + "label": "Decreased specific pneumococcal antibody level" + } + }, + { + "type": { + "id": "HP:0008348", + "label": "Decreased circulating IgG2 level" + } + }, + { + "type": { + "id": "HP:0100658", + "label": "Cellulitis" + } + }, + { + "type": { + "id": "HP:0002088", + "label": "Abnormal lung morphology" + } + }, + { + "type": { + "id": "HP:0002733", + "label": "Abnormal lymph node morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615513", + "label": "Immunodeficiency 14" + } + } + ], + "metaData": { + "created": "2024-06-11T21:28:37.117700Z", + "createdBy": 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diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_17_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_17_patient_1.json new file mode 100644 index 000000000..fa14ebc7d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_17_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "immunodeficiency_17", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005218", + "label": "Anoperineal fistula" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0002028", + "label": "Chronic diarrhea" + } + }, + { + "type": { + "id": "HP:0002205", + "label": "Recurrent respiratory infections" + } + }, + { + "type": { + "id": "HP:0002242", + "label": "Abnormal intestine morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615607", + "label": "Immunodeficiency 17" + } + } + ], + "metaData": 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000000000..06385d994 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_27B_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "immunodeficiency_27b", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002721", + "label": "Immunodeficiency" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615978", + "label": "Immunodeficiency 27B" + } + } + ], + "metaData": { + "created": "2024-06-11T23:33:34.060227Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_28_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_28_patient_1.json new file mode 100644 index 000000000..8dd4c246a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_28_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "immunodeficiency_28", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002721", + "label": "Immunodeficiency" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614889", + "label": "Immunodeficiency 28" + } + } + ], + "metaData": { + "created": "2024-06-11T22:41:11.871438Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_30_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "immunodeficiency_30", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002721", + "label": "Immunodeficiency" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614891", + "label": "Immunodeficiency 30" + } + } + ], + "metaData": { + "created": "2024-06-11T18:56:39.832059Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_31A_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_31A_patient_1.json new file mode 100644 index 000000000..5a5bdbf9c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_31A_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "immunodeficiency_31a", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002721", + "label": "Immunodeficiency" + } + }, + { + "type": { + "id": "HP:0020086", + "label": "BCGitis" + } + }, + { + "type": { + "id": "HP:0032101", + "label": "Unusual infection" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614892", + "label": "Immunodeficiency 31A" + } + } + ], + "metaData": { + "created": "2024-06-11T18:32:34.232164Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_32A_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_32A_patient_1.json new file mode 100644 index 000000000..d65edfd33 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_32A_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "immunodeficiency_32a", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002716", + "label": "Lymphadenopathy" + } + }, + { + "type": { + "id": "HP:0020085", + "label": "Infection following live vaccination" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614893", + "label": "Immunodeficiency 32A" + } + } + ], + "metaData": { + "created": "2024-06-11T18:56:15.907138Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_32B_monocyte_and_dendritic_cell_deficiency_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_32B_monocyte_and_dendritic_cell_deficiency_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..c8be05faa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_32B_monocyte_and_dendritic_cell_deficiency_autosomal_recessive_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "immunodeficiency_32b,_monocyte_and_dendritic_cell_deficiency,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001880", + "label": "Eosinophilia" + } + }, + { + "type": { + "id": "HP:0012138", + "label": "Granulocytic hyperplasia" + } + }, + { + "type": { + "id": "HP:0001744", + "label": "Splenomegaly" + } + }, + { + "type": { + "id": "HP:0002719", + "label": "Recurrent infections" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0011897", + "label": "Neutrophilia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:226990", + "label": "Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive" + } + } + ], + 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"namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_35_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_35_patient_1.json new file mode 100644 index 000000000..ba706628b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_35_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "immunodeficiency_35", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004429", + "label": "Recurrent viral infections" + } + }, + { + "type": { + "id": "HP:0002719", + "label": "Recurrent infections" + } + 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+++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_36_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "immunodeficiency_36", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002718", + "label": "Recurrent bacterial infections" + } + }, + { + "type": { + "id": "HP:0410377", + "label": "Decreased proportion of naive CD8 T cells" + } + }, + { + "type": { + "id": "HP:0410378", + "label": "Decreased proportion of naive CD4 T cells" + } + }, + { + "type": { + "id": "HP:0030381", + "label": "Increased proportion of transitional B cells" + } + }, + { + "type": { + "id": "HP:0002960", + "label": "Autoimmunity" + } + }, + { + "type": { + "id": "HP:0011793", + "label": "Neoplasm by anatomical site" + } + }, + { + "type": { + "id": "HP:0012252", + "label": "Abnormal respiratory system morphology" + } + }, + { + "type": { + "id": "HP:0003460", + "label": "Decreased circulating total IgA" + } + }, + { + "type": { + "id": "HP:0100776", + "label": "Recurrent pharyngitis" + } + }, + { + "type": { + "id": "HP:0032133", + "label": "Transient decreased circulating total IgG" + } + }, + { + "type": { + "id": "HP:0002664", + "label": "Neoplasm" + } + }, + { + "type": { + "id": "HP:0020072", + "label": "Persistent EBV viremia" + } + }, + { + "type": { + "id": "HP:0002028", + "label": "Chronic diarrhea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616005", + "label": "Immunodeficiency 36" + } + } + ], + "metaData": { + "created": "2024-06-11T19:45:16.426054Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_37_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_37_patient_1.json new file mode 100644 index 000000000..ce5e44605 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_37_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "immunodeficiency_37", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0410388", + "label": "Decreased proportion of central memory CD4-positive, alpha-beta T cells" + } + }, + { + "type": { + "id": "HP:0004313", + "label": "Decreased circulating antibody level" + } + }, + { + "type": { + "id": "HP:0002133", + "label": "Status epilepticus" + } + }, + { + "type": { + "id": "HP:0032101", + "label": "Unusual infection" + } + }, + { + "type": { + "id": "HP:0012719", + "label": "Functional abnormality of the gastrointestinal tract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616098", + "label": "Immunodeficiency 37" + } + } + ], + "metaData": { + "created": "2024-06-11T17:45:12.427104Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_38_with_basal_ganglia_calcification_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_38_with_basal_ganglia_calcification_patient_1.json new file mode 100644 index 000000000..18b5abcb3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_38_with_basal_ganglia_calcification_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "immunodeficiency_38_with_basal_ganglia_calcification", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002135", + "label": "Basal ganglia calcification" + } + }, + { + "type": { + "id": "HP:0034751", + "label": "Inguinal lymphadenopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616126", + "label": "Immunodeficiency 38 with basal ganglia calcification" + } + } + ], + "metaData": { + "created": "2024-06-11T22:50:31.389161Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_39_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_39_patient_1.json new file mode 100644 index 000000000..c261fd8bb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_39_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "immunodeficiency_39", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002721", + "label": "Immunodeficiency" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616345", + "label": "Immunodeficiency 39" + } + } + ], + "metaData": { + "created": "2024-06-11T21:42:44.716579Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_40_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_40_patient_1.json new file mode 100644 index 000000000..0ba01ad7f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_40_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "immunodeficiency_40", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002028", + "label": "Chronic diarrhea" + } + }, + { + "type": { + "id": "HP:0032170", + "label": "Severe varicella zoster infection" + } + }, + { + "type": { + "id": "HP:0005387", + "label": "Combined immunodeficiency" + } + }, + { + "type": { + "id": "HP:0100590", + "label": "Rectal fistula" + } + }, + { + "type": { + "id": "HP:0031402", + "label": "Reduced antigen-specific T cell proliferation" + } + }, + { + "type": { + "id": "HP:0031964", + "label": "Elevated circulating alanine aminotransferase concentration" + } + }, + { + "type": { + "id": "HP:0005403", + "label": "T lymphocytopenia" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616433", + "label": "Immunodeficiency 40" + } + } + ], + "metaData": { + "created": "2024-06-11T21:57:58.853614Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_41_with_lymphoproliferation_and_autoimmunity_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_41_with_lymphoproliferation_and_autoimmunity_patient_1.json new file mode 100644 index 000000000..3e629c85f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_41_with_lymphoproliferation_and_autoimmunity_patient_1.json @@ -0,0 +1,188 @@ +{ + "id": "immunodeficiency_41_with_lymphoproliferation_and_autoimmunity", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001019", + "label": "Erythroderma" + } + }, + { + "type": { + "id": "HP:0002289", + "label": "Alopecia universalis" + } + }, + { + "type": { + "id": "HP:0002232", + "label": "Patchy alopecia" + } + }, + { + "type": { + "id": "HP:0040189", + "label": "Scaling skin" + } + }, + { + "type": { + "id": "HP:0100646", + "label": "Thyroiditis" + } + }, + { + "type": { + "id": "HP:0002028", + "label": "Chronic diarrhea" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0003765", + "label": "Psoriasiform dermatitis" + } + }, + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0010976", + "label": "B lymphocytopenia" + } + }, + { + "type": { + "id": "HP:0005403", + "label": "T lymphocytopenia" + } + }, + { + "type": { + "id": "HP:0030812", + "label": "Enlarged tonsils" + } + }, + { + "type": { + "id": "HP:0002848", + "label": "Decreased specific anti-polysaccharide antibody level" + } + }, + { + "type": { + "id": "HP:0003212", + "label": "Increased circulating IgE level" + } + }, + { + "type": { + "id": "HP:0020113", + "label": "Decreased proportion of CD4+CD25+ regulatory T cells" + } + }, + { + "type": { + "id": "HP:0002716", + "label": "Lymphadenopathy" + } + }, + { + "type": { + "id": "HP:0002028", + "label": "Chronic diarrhea" + } + }, + { + "type": { + "id": "HP:0009098", + "label": "Chronic oral candidiasis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0000832", + "label": "Primary hypothyroidism" + } + }, + { + "type": { + "id": "HP:0010701", + "label": "Abnormal immunoglobulin level" + } + }, + { + "type": { + "id": "HP:0005366", + "label": "Recurrent streptococcus pneumoniae infections" + } + }, + { + "type": { + "id": "HP:0000819", + "label": "Diabetes mellitus" + } + }, + { + "type": { + "id": "HP:0031394", + "label": "Abnormal CD4:CD8 ratio" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606367", + "label": "Immunodeficiency 41 with lymphoproliferation and autoimmunity" + } + } + ], + "metaData": { + "created": "2024-06-11T20:53:44.862569Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_42_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_42_patient_1.json new file mode 100644 index 000000000..27d1e9254 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_42_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "immunodeficiency_42", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0020087", + "label": "BCGosis" + } + }, + { + "type": { + "id": "HP:0009098", + "label": "Chronic oral candidiasis" + } + }, + { + "type": { + "id": "HP:0012204", + "label": "Recurrent vulvovaginal candidiasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616622", + "label": "Immunodeficiency 42" + } + } + ], + "metaData": { + "created": "2024-06-11T21:17:04.780686Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_43_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_43_patient_1.json new file mode 100644 index 000000000..921277d48 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_43_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "immunodeficiency_43", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003075", + "label": "Hypoproteinemia" + } + }, + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0005366", + "label": "Recurrent streptococcus pneumoniae infections" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:241600", + "label": "Immunodeficiency 43" + } + } + ], + "metaData": { + "created": "2024-06-11T22:21:39.697884Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_44_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_44_patient_1.json new file mode 100644 index 000000000..bfff0d16c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_44_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "immunodeficiency_44", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040204", + "label": "Elevated CSF neopterin level" + } + }, + { + "type": { + "id": "HP:0001888", + "label": "Lymphopenia" + } + }, + { + "type": { + "id": "HP:0002850", + "label": "Decreased circulating total IgM" + } + }, + { + "type": { + "id": "HP:0002151", + "label": "Increased circulating lactate concentration" + } + }, + { + "type": { + "id": "HP:0020088", + "label": "Post-vaccination measles" + } + }, + { + "type": { + "id": "HP:0002720", + "label": "Decreased circulating IgA level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616636", + "label": "Immunodeficiency 44" + } + } + ], + "metaData": { + "created": "2024-06-11T21:17:00.275442Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_45_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_45_patient_1.json new file mode 100644 index 000000000..ac460e1ec --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_45_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "immunodeficiency_45", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0020088", + "label": "Post-vaccination measles" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616669", + "label": "Immunodeficiency 45" + } + } + ], + "metaData": { + "created": "2024-06-11T22:55:23.138366Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_46_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_46_patient_1.json new file mode 100644 index 000000000..1d7c8ecc6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_46_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "immunodeficiency_46", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002721", + "label": 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], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_57_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_57_patient_1.json new file mode 100644 index 000000000..142078a97 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_57_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "immunodeficiency_57", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012718", + "label": "Abnormal gastrointestinal tract morphology" + } + }, + { + "type": { + "id": "HP:0040186", + "label": "Maculopapular exanthema" + } + }, + { + "type": { + "id": "HP:0011123", + "label": "Inflammatory abnormality of the skin" + } + }, + { + "type": { + "id": "HP:0002041", + "label": "Intractable diarrhea" + } + }, + { + "type": { + "id": "HP:0100501", + "label": "Recurrent bronchiolitis" + } + }, + { + "type": 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+ } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_61_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_61_patient_1.json new file mode 100644 index 000000000..a77d2ca30 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_61_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "immunodeficiency_61", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000403", + "label": "Recurrent otitis media" + } + }, + { + "type": { + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" + } + }, + { + "type": { + "id": "HP:0032138", + "label": "Decreased circulating IgG4 level" + } + }, + { + "type": { + "id": "HP:0002718", + "label": "Recurrent bacterial infections" + } + }, + { + "type": { + "id": "HP:0002850", + "label": "Decreased circulating total IgM" + } + }, + { + "type": { + "id": "HP:0001513", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_63_with_lymphoproliferation_and_autoimmunity_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "immunodeficiency_63_with_lymphoproliferation_and_autoimmunity", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001744", + "label": "Splenomegaly" + } + }, + { + "type": { + "id": "HP:0032247", + "label": "Persistent CMV viremia" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0008064", + "label": "Ichthyosis" + } + }, + { + "type": { + "id": "HP:0033039", + "label": "Increased circulating precipitin level" + } + }, + { + "type": { + "id": "HP:0004430", + "label": "Severe combined immunodeficiency" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618495", + "label": "Immunodeficiency 63 with lymphoproliferation and autoimmunity" + } + } + ], + "metaData": { + "created": "2024-06-12T00:50:29.298803Z", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_65_susceptibility_to_viral_infections_patient_1.json new file mode 100644 index 000000000..eb5bb542b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_65_susceptibility_to_viral_infections_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "immunodeficiency_65,_susceptibility_to_viral_infections", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033214", + "label": "Recurrent viral pneumonia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0000230", + "label": "Gingivitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618648", + "label": "Immunodeficiency 65, susceptibility to viral infections" + } + } + ], + "metaData": { + "created": "2024-06-11T19:13:54.887249Z", + 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"patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030253", + "label": "Defective T cell proliferation" + } + }, + { + "type": { + "id": "HP:0001581", + "label": "Recurrent skin infections" + } + }, + { + "type": { + "id": "HP:0100806", + "label": "Sepsis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618847", + "label": "Immunodeficiency 66" + } + } + ], + "metaData": { + "created": "2024-06-11T19:11:11.447563Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_67_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_67_patient_1.json new file mode 100644 index 000000000..fd8fd9ebf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_67_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "immunodeficiency_67", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007499", + "label": "Recurrent staphylococcal infections" + } + }, + { + "type": { + "id": "HP:0020096", + "label": "Recurrent streptococcal infections" + } + }, + { + "type": { + "id": "HP:0410300", + "label": "Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vaccine" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0032160", + "label": "Cryptococcal meningitis" + } + }, + { + "type": { + "id": "HP:0002721", + "label": "Immunodeficiency" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607676", + "label": "Immunodeficiency 67" + } + } + ], + "metaData": { + "created": "2024-06-11T22:39:45.907320Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_68_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_68_patient_1.json new file mode 100644 index 000000000..fd0713f08 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_68_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "immunodeficiency_68", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025615", + "label": "Abscess" + } + }, + { + "type": { + "id": "HP:0032434", + "label": "Delayed umbilical cord separation" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0009098", + "label": "Chronic oral candidiasis" + } + }, + { + "type": { + "id": "HP:0030252", + "label": "Absent circulating B cells" + } + }, + { + "type": { + "id": "HP:0007274", + "label": "Recurrent bacterial meningitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612260", + "label": "Immunodeficiency 68" + } + } + ], + "metaData": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_69_mycobacteriosis_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "immunodeficiency_69,_mycobacteriosis", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001433", + "label": "Hepatosplenomegaly" + } + }, + { + "type": { + "id": "HP:0001876", + "label": "Pancytopenia" + } + }, + { + "type": { + "id": "HP:0020086", + "label": "BCGitis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618963", + "label": "Immunodeficiency 69, mycobacteriosis" + } + } + ], + "metaData": { + "created": "2024-06-11T21:48:11.688769Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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"iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_71_with_inflammatory_disease_and_congenital_thrombocytopenia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_71_with_inflammatory_disease_and_congenital_thrombocytopenia_patient_1.json new file mode 100644 index 000000000..35d09caf7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_71_with_inflammatory_disease_and_congenital_thrombocytopenia_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "immunodeficiency_71_with_inflammatory_disease_and_congenital_thrombocytopenia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002633", + "label": "Vasculitis" + } + }, + { + "type": { + "id": "HP:0031813", + "label": "Colonic eosinophilia" + } + }, + { + "type": { + "id": 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end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_72_with_autoinflammation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_72_with_autoinflammation_patient_1.json new file mode 100644 index 000000000..d86155b31 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_72_with_autoinflammation_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "immunodeficiency_72_with_autoinflammation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0001433", + "label": "Hepatosplenomegaly" + } + }, + { + "type": { + "id": "HP:0032288", + "label": "Polyclonal elevation of circulating IgG" + } + }, + { + "type": { + "id": "HP:0012647", + "label": "Abnormal inflammatory response" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618982", + "label": "Immunodeficiency 72 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000000000..0d44908c1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_73A_with_defective_neutrophil_chemotaxix_and_leukocytosis_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "immunodeficiency_73a_with_defective_neutrophil_chemotaxix_and_leukocytosis", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031545", + "label": "Abnormally low T cell receptor excision circle level" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0001058", + "label": "Poor wound healing" + } + }, + { + "type": { + "id": "HP:0011993", + "label": "Impaired neutrophil bactericidal activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608203", + "label": "Immunodeficiency 73A with defective neutrophil chemotaxix and leukocytosis" + } + } + ], + "metaData": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_73B_with_defective_neutrophil_chemotaxis_and_lymphopenia_patient_1.json @@ -0,0 +1,116 @@ +{ + "id": "immunodeficiency_73b_with_defective_neutrophil_chemotaxis_and_lymphopenia", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P23Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032170", + "label": "Severe varicella zoster infection" + } + }, + { + "type": { + "id": "HP:0002205", + "label": "Recurrent respiratory infections" + } + }, + { + "type": { + "id": "HP:0000403", + "label": "Recurrent otitis media" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0004469", + "label": "Chronic bronchitis" + } + }, + { + "type": { + "id": "HP:0008940", + "label": "Generalized lymphadenopathy" + } + }, + { + "type": { + "id": "HP:0200117", + "label": "Recurrent upper and lower respiratory tract infections" + } + }, + { + "type": { + "id": "HP:0001881", + "label": "Abnormal leukocyte morphology" + } + }, + { + "type": { + "id": "HP:0004313", + "label": "Decreased circulating antibody level" + } + }, + { + "type": { + "id": "HP:0030252", + "label": "Absent circulating B cells" + } + }, + { + "type": { + "id": "HP:0001876", + "label": "Pancytopenia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618986", + "label": "Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia" + } + } + ], + "metaData": { + "created": "2024-06-11T20:40:51.430929Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": 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"age": { + "iso8601duration": "P11Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001531", + "label": "Failure to thrive in infancy" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0010976", + "label": "B lymphocytopenia" + } + }, + { + "type": { + "id": "HP:0031545", + "label": "Abnormally low T cell receptor excision circle level" + } + }, + { + "type": { + "id": "HP:0010701", + "label": "Abnormal immunoglobulin level" + } + }, + { + "type": { + "id": "HP:0010701", + "label": "Abnormal immunoglobulin level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618987", + "label": "Immunodeficiency 73C with defective neutrophil chemotaxis and hypogammaglobulinemia" + } + } + ], + "metaData": { + "created": "2024-06-11T21:01:38.217477Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0033141", + "label": "Severe SARS-CoV-2 infection" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301051", + "label": "Immunodeficiency 74, COVID19-related, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T23:57:01.985324Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_75_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_75_patient_1.json new file mode 100644 index 000000000..90fda0149 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_75_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "immunodeficiency_75", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002665", + "label": "Lymphoma" + } + }, + { + "type": { + "id": "HP:0002205", + "label": "Recurrent respiratory infections" + } + }, + { + "type": { + "id": "HP:4000057", + "label": "Decreased FasL-mediated apoptosis" + } + }, + { + "type": { + "id": "HP:0030388", + "label": "Decreased proportion of class-switched memory B cells" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619126", + "label": "Immunodeficiency 75" + } + } + ], + "metaData": { + "created": "2024-06-11T20:35:40.618453Z", + 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"patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100501", + "label": "Recurrent bronchiolitis" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0006532", + "label": "Recurrent pneumonia" + } + }, + { + "type": { + "id": "HP:0002716", + "label": "Lymphadenopathy" + } + }, + { + "type": { + "id": "HP:0005403", + "label": "T lymphocytopenia" + } + }, + { + "type": { + "id": "HP:0001888", + "label": "Lymphopenia" + } + }, + { + "type": { + "id": "HP:0010976", + "label": "B lymphocytopenia" + } + }, + { + "type": { + "id": "HP:0002028", + "label": "Chronic diarrhea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619164", + "label": "Immunodeficiency 76" + } + } + ], + "metaData": { + "created": "2024-06-11T23:51:25.381417Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_78_with_autoimmunity_and_developmental_delay_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_78_with_autoimmunity_and_developmental_delay_patient_1.json new file mode 100644 index 000000000..18f8ee6e0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_78_with_autoimmunity_and_developmental_delay_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "immunodeficiency_78_with_autoimmunity_and_developmental_delay", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000403", + "label": "Recurrent otitis media" + } + }, + { + "type": { + "id": "HP:0006268", + "label": "Fluctuating splenomegaly" + } + }, + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0001904", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_7_TCR_alpha_beta_deficient_patient_1.json new file mode 100644 index 000000000..5c55b2464 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_7_TCR_alpha_beta_deficient_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "immunodeficiency_7,_tcr-alpha/beta_deficient", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002733", + "label": "Abnormal lymph node morphology" + } + }, + { + "type": { + "id": "HP:0000403", + "label": "Recurrent otitis media" + } + }, + { + "type": { + "id": "HP:0004891", + "label": "Recurrent infections due to aspiration" + } + }, + { + "type": { + "id": "HP:0032101", + "label": "Unusual infection" + } + }, + { + "type": { + "id": "HP:0410252", + "label": "Chronic neutropenia" + } + }, + { + "type": { + "id": "HP:0020064", + "label": "Abnormal eosinophil count" + } + }, + { + "type": { + "id": "HP:0001525", + "label": "Severe failure to thrive" + } + }, + { + "type": { + "id": "HP:0011370", + "label": "Recurrent cutaneous fungal infections" + } + }, + { + "type": { + "id": "HP:0006564", + "label": "Fluctuating hepatomegaly" + } + }, + { + "type": { + "id": "HP:0034078", + "label": "Anti-centromere protein A antibody positivity" + } + }, + { + "type": { + "id": "HP:0005602", + "label": "Progressive vitiligo" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615387", + "label": "Immunodeficiency 7, TCR-alpha/beta deficient" + } + } + ], + "metaData": { + "created": "2024-06-11T19:12:54.017304Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_80_with_or_without_cardiomyopathy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_80_with_or_without_cardiomyopathy_patient_1.json new file mode 100644 index 000000000..43671460e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_80_with_or_without_cardiomyopathy_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "immunodeficiency_80_with_or_without_cardiomyopathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001790", + "label": "Nonimmune hydrops fetalis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + }, + { + "type": { + "id": "HP:0040218", + "label": 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"http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_81_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_81_patient_1.json new file mode 100644 index 000000000..e1e027ea3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_81_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "immunodeficiency_81", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100838", + "label": "Recurrent cutaneous abscess formation" + } + }, + { + "type": { + "id": "HP:0025632", + "label": "Reduced reactive oxygen species production in neutrophils" + } + }, + { + "type": { + "id": "HP:0031404", + "label": "Impaired antigen-specific response" + } + }, + { + "type": { + "id": "HP:0031292", + "label": "Cutaneous abscess" + } + }, + { + "type": { + "id": "HP:0008320", + "label": "Impaired collagen-induced platelet aggregation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619374", + "label": "Immunodeficiency 81" + } + } + ], + "metaData": { + "created": "2024-06-11T23:06:53.356308Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_82_with_systemic_inflammation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_82_with_systemic_inflammation_patient_1.json new file mode 100644 index 000000000..b1ebea8bb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_82_with_systemic_inflammation_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "immunodeficiency_82_with_systemic_inflammation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001744", + "label": "Splenomegaly" + } + }, + { + "type": { + "id": "HP:0012387", + "label": "Bronchitis" + } + }, + { + "type": { + "id": "HP:0011110", + "label": "Recurrent tonsillitis" + } + }, + { + "type": { + "id": "HP:0012649", + "label": "Increased inflammatory response" + } + }, + { + "type": { + "id": "HP:0011227", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_12_patient_1.json new file mode 100644 index 000000000..22e611388 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_12_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "immunodeficiency,_common_variable,_12", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005425", + "label": "Recurrent sinopulmonary infections" + } + }, + { + "type": { + "id": "HP:0006510", + "label": "Chronic pulmonary obstruction" + } + }, + { + "type": { + "id": "HP:0032101", + "label": "Unusual infection" + } + }, + { + "type": { + "id": "HP:0011874", + "label": "Heparin-induced thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0011123", + "label": "Inflammatory abnormality of the skin" + } + }, + { + "type": { + "id": "HP:0033214", + "label": "Recurrent viral pneumonia" + } + }, + { + "type": { + "id": "HP:0001595", + "label": "Abnormal hair morphology" + } + }, + { + "type": { + "id": "HP:0004430", + "label": "Severe combined immunodeficiency" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616576", + "label": "Immunodeficiency, common variable, 12" + } + } + ], + "metaData": { + "created": "2024-06-11T20:09:19.321477Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_13_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_13_patient_1.json new file mode 100644 index 000000000..f5e39fd37 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_13_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "immunodeficiency,_common_variable,_13", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010701", + "label": "Abnormal immunoglobulin level" + } + }, + { + "type": { + "id": "HP:0011893", + "label": "Abnormal leukocyte count" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0025116", + "label": "Fetal distress" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616873", + "label": "Immunodeficiency, common variable, 13" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_14_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "immunodeficiency,_common_variable,_14", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005387", + "label": "Combined immunodeficiency" + } + }, + { + "type": { + "id": "HP:0012647", + "label": "Abnormal inflammatory response" + } + }, + { + "type": { + "id": "HP:0010701", + "label": "Abnormal immunoglobulin level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617765", + "label": "Immunodeficiency, common variable, 14" + } + } + ], + "metaData": { + "created": "2024-06-12T00:31:52.270933Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_1_patient_1.json new file mode 100644 index 000000000..49d63c2d4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_1_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "immunodeficiency,_common_variable,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005607", + "label": "Abnormal tracheobronchial morphology" + } + }, + { + "type": { + "id": "HP:0005435", + "label": "Impaired T cell function" + } + }, + { + "type": { + "id": "HP:0100501", + "label": "Recurrent bronchiolitis" + } + }, + { + "type": { + "id": "HP:0001438", + "label": "Abnormal abdomen morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607594", + "label": "Immunodeficiency, common variable, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:05:43.295713Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_2_patient_1.json new file mode 100644 index 000000000..7fe527033 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_2_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "immunodeficiency,_common_variable,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005387", + "label": "Combined immunodeficiency" + } + }, + { + "type": { + "id": "HP:0011108", + "label": "Recurrent sinusitis" + } + }, + { + "type": { + "id": "HP:0002837", + "label": "Recurrent bronchitis" + } + }, + { + "type": { + "id": "HP:0004315", + "label": "Decreased circulating IgG level" + } + }, + { + "type": { + "id": "HP:0011837", + "label": "Partial IgA deficiency" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:240500", + "label": "Immunodeficiency, common variable, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:21:08.085043Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_3_patient_1.json new file mode 100644 index 000000000..3b70e2a19 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_3_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "immunodeficiency,_common_variable,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002718", + "label": "Recurrent bacterial infections" + } + }, + { + "type": { + "id": "HP:0011108", + "label": "Recurrent sinusitis" + } + }, + { + "type": { + "id": "HP:0005387", + "label": "Combined immunodeficiency" + } + }, + { + "type": { + "id": "HP:0032134", + "label": "Chronic decreased circulating total IgG" + } + }, + { + "type": { + "id": "HP:0002850", + "label": "Decreased circulating total IgM" + } + }, + { + "type": { + "id": "HP:0032139", + "label": "Reduced isohemagglutinin level" + } + }, + { + "type": { + "id": "HP:0030388", + "label": "Decreased proportion of class-switched memory B cells" + } + }, + { + "type": { + "id": "HP:0000403", + "label": "Recurrent otitis media" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_4_patient_1.json new file mode 100644 index 000000000..5ba9b2094 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_4_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "immunodeficiency,_common_variable,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004315", + "label": "Decreased circulating IgG level" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0005376", + "label": "Recurrent Haemophilus influenzae infections" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613494", + "label": "Immunodeficiency, common variable, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T19:17:46.085144Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_5_patient_1.json new file mode 100644 index 000000000..d3e988fee --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_5_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "immunodeficiency,_common_variable,_5", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P4Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005366", + "label": "Recurrent streptococcus pneumoniae infections" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0032134", + "label": "Chronic decreased circulating total IgG" + } + }, + { + "type": { + "id": "HP:0002960", + "label": "Autoimmunity" + } + }, + { + "type": { + "id": "HP:0002721", + "label": "Immunodeficiency" + } + }, + { + "type": { + "id": "HP:0002719", + "label": "Recurrent infections" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613495", + "label": "Immunodeficiency, common variable, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T19:01:23.463246Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_6_patient_1.json new file mode 100644 index 000000000..6a19f0de6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_6_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "immunodeficiency,_common_variable,_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012593", + "label": "Nephrotic range proteinuria" + } + }, + { + "type": { + "id": "HP:0005366", + "label": "Recurrent streptococcus pneumoniae infections" + } + }, + { + "type": { + "id": "HP:0001433", + "label": "Hepatosplenomegaly" + } + }, + { + "type": { + "id": "HP:0012475", + "label": "Decreased circulating level of specific antibody" + } + }, + { + "type": { + "id": "HP:0025142", + "label": "Constitutional symptom" + } + }, + { + "type": { + "id": "HP:0031363", + "label": "Palpable purpura" + } + }, + { + "type": { + "id": "HP:0000123", + "label": "Nephritis" + } + }, + { + "type": { + "id": "HP:0004315", + "label": "Decreased circulating IgG level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613496", + "label": "Immunodeficiency, common variable, 6" + } + } + ], + "metaData": { + "created": "2024-06-11T18:37:39.136193Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_7_patient_1.json new file mode 100644 index 000000000..1b234b5be --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_7_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "immunodeficiency,_common_variable,_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002028", + "label": "Chronic diarrhea" + } + }, + { + "type": { + "id": "HP:0005360", + "label": "Susceptibility to chickenpox" + } + }, + { + "type": { + "id": "HP:0041059", + "label": "Chronic (near) absent circulating IgG4" + } + }, + { + "type": { + "id": "HP:0012787", + "label": "Recurrent pyelonephritis" + } + }, + { + "type": { + "id": "HP:0041070", + "label": "Chronic partially decreased circulating IgG1" + } + }, + { + "type": { + "id": "HP:0012476", + "label": "Decreased specific pneumococcal antibody level" + } + }, + { + "type": { + "id": "HP:0010701", + "label": "Abnormal immunoglobulin level" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0032139", + "label": "Reduced isohemagglutinin level" + } + }, + { + "type": { + "id": "HP:0031921", + "label": "Gastrocnemius myalgia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614699", + "label": "Immunodeficiency, common variable, 7" + } + } + ], + "metaData": { + "created": "2024-06-11T18:29:07.337245Z", + "createdBy": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_common_variable_8_with_autoimmunity_patient_1.json @@ -0,0 +1,224 @@ +{ + "id": "immunodeficiency,_common_variable,_8,_with_autoimmunity", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100646", + "label": "Thyroiditis" + } + }, + { + "type": { + "id": "HP:0033214", + "label": "Recurrent viral pneumonia" + } + }, + { + "type": { + "id": "HP:0001973", + "label": "Autoimmune thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0002850", + "label": "Decreased circulating total IgM" + } + }, + { + "type": { + "id": "HP:0001525", + "label": "Severe failure to thrive" + } + }, + { + "type": { + "id": "HP:0002028", + "label": "Chronic diarrhea" + } + }, + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0002846", + "label": "Abnormal B cell 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} + }, + { + "type": { + "id": "HP:0001324", + "label": "Muscle weakness" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0012101", + "label": "Decreased serum creatinine" + } + }, + { + "type": { + "id": "HP:0004313", + "label": "Decreased circulating antibody level" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0002720", + "label": "Decreased circulating IgA level" + } + }, + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal defect" + } + }, + { + "type": { + "id": "HP:0011342", + "label": "Mild global developmental delay" + } + }, + { + "type": { + "id": "HP:0011370", + "label": "Recurrent cutaneous fungal infections" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617744", + "label": "Immunodeficiency, developmental delay, and hypohomocysteinemia" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_due_to_defect_in_mapbp_interacting_protein_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "immunodeficiency_due_to_defect_in_mapbp-interacting_protein", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002721", + "label": "Immunodeficiency" + } + }, + { + "type": { + "id": "HP:0000339", + "label": "Pugilistic facies" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610798", + "label": "Immunodeficiency due to defect in mapbp-interacting protein" + } + } + ], + "metaData": { + "created": "2024-06-11T18:48:36.553330Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_due_to_purine_nucleoside_phosphorylase_deficiency_patient_1.json new file mode 100644 index 000000000..c50c7c76a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_due_to_purine_nucleoside_phosphorylase_deficiency_patient_1.json @@ -0,0 +1,152 @@ +{ + "id": "immunodeficiency_due_to_purine_nucleoside_phosphorylase_deficiency", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001973", + "label": "Autoimmune thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0012410", + "label": "Pure red cell aplasia" + } + }, + { + "type": { + "id": "HP:0003537", + "label": "Hypouricemia" + }, + "onset": { + "ontologyClass": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_ovarian_dysgenesis_and_pulmonary_fibrosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_ovarian_dysgenesis_and_pulmonary_fibrosis_patient_1.json new file mode 100644 index 000000000..e022d1d16 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_ovarian_dysgenesis_and_pulmonary_fibrosis_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "immunodeficiency,_ovarian_dysgenesis,_and_pulmonary_fibrosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002721", + "label": "Immunodeficiency" + } + }, + { + "type": { + "id": "HP:0002720", + "label": "Decreased circulating IgA level" + } + }, + { + "type": { + "id": "HP:3000076", + "label": "Abnormality of lingual tonsil" + } + }, + { + "type": { + "id": "HP:0001684", + "label": "Secundum atrial septal defect" + } + }, + { + "type": { + "id": "HP:0008723", + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_partial_combined_with_absence_of_hla_determinantsand_beta_2_microglobulin_from_lymphocytes_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_partial_combined_with_absence_of_hla_determinantsand_beta_2_microglobulin_from_lymphocytes_patient_1.json new file mode 100644 index 000000000..08282ecc6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_partial_combined_with_absence_of_hla_determinantsand_beta_2_microglobulin_from_lymphocytes_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "immunodeficiency,_partial_combined,_with_absence_of_hla_determinantsand_beta-2-microglobulin_from_lymphocytes", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005401", + "label": "Recurrent candida infections" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:242870", + "label": "Immunodeficiency, partial 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000000000..20c4958af --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_with_hyper_IgM_type_4_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "immunodeficiency_with_hyper-igm,_type_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002718", + "label": "Recurrent bacterial infections" + } + }, + { + "type": { + "id": "HP:0100776", + "label": "Recurrent pharyngitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608184", + "label": "Immunodeficiency with hyper-IgM, type 4" + } + } + ], + "metaData": { + "created": "2024-06-11T21:41:06.654273Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + 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"2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_with_hyper_igm_type_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_with_hyper_igm_type_2_patient_1.json new file mode 100644 index 000000000..d2e90cd37 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_with_hyper_igm_type_2_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "immunodeficiency_with_hyper-igm,_type_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004315", + "label": "Decreased circulating IgG level" + } + }, + { + "type": { + "id": "HP:0011837", + "label": "Partial IgA deficiency" + } + }, + { + "type": { + "id": "HP:0200117", + "label": "Recurrent upper and lower respiratory tract infections" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605258", + "label": "Immunodeficiency with hyper-igm, type 2" + } + } + ], + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodeficiency_with_hyper_igm_type_3_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "immunodeficiency_with_hyper-igm,_type_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002959", + "label": "Impaired Ig class switch recombination" + } + }, + { + "type": { + "id": "HP:0032101", + "label": "Unusual infection" + } + }, + { + "type": { + "id": "HP:0033022", + "label": "Chronic decreased circulating IgE" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + }, + { + "type": { + "id": "HP:0004430", + "label": "Severe combined immunodeficiency" + } + }, + { + "type": { + "id": "HP:0011991", + "label": "Abnormal neutrophil count" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606843", + "label": "Immunodeficiency with hyper-igm, type 3" + } + } + ], + "metaData": { + "created": "2024-06-11T17:52:33.934892Z", + "createdBy": "phenotype2phenopacket", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunodysregulation_polyendocrinopathy_and_enteropathy_X_linked_patient_1.json @@ -0,0 +1,86 @@ +{ + "id": "immunodysregulation,_polyendocrinopathy,_and_enteropathy,_x-linked", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000964", + "label": "Eczematoid dermatitis" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0002958", + "label": "Immune dysregulation" + } + }, + { + "type": { + "id": "HP:0500093", + "label": "Food allergy" + } + }, + { + "type": { + "id": "HP:0032248", + "label": "Persistent viremia" + } + }, + { + "type": { + "id": "HP:0004814", + "label": "Fava bean-induced hemolytic anemia" + } + }, + { + "type": { + "id": "HP:0002590", + "label": "Paralytic ileus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:304790", + "label": "Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T20:29:32.160082Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunoerythromyeloid_hypoplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunoerythromyeloid_hypoplasia_patient_1.json new file mode 100644 index 000000000..ba761c2d9 --- 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunoglobulin_D_level_in_plasma_low_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunoglobulin_D_level_in_plasma_low_patient_1.json new file mode 100644 index 000000000..c1df1c8d6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunoglobulin_D_level_in_plasma_low_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "immunoglobulin_d_level_in_plasma,_low", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002715", + "label": "Abnormality of the immune system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:242890", + "label": "Immunoglobulin D level in plasma, low" + } + } + ], + "metaData": { + "created": "2024-06-11T19:43:10.352520Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunoneurologic_disorder_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunoneurologic_disorder_X_linked_patient_1.json new file mode 100644 index 000000000..330ace068 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunoneurologic_disorder_X_linked_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "immunoneurologic_disorder,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008348", + "label": "Decreased circulating IgG2 level" + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + }, + { + "type": { + "id": "HP:0001258", + "label": "Spastic paraplegia" + } + }, + { + "type": { + "id": "HP:0001348", + "label": "Brisk reflexes" + } + }, + { + "type": { + "id": "HP:0000009", + "label": "Functional abnormality of the bladder" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300076", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunoosseous_dysplasia_Schimke_type_patient_1.json @@ -0,0 +1,224 @@ +{ + "id": "immunoosseous_dysplasia,_schimke_type", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P24Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0002942", + "label": "Thoracic kyphosis" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0012733", + "label": "Macule" + } + }, + { + "type": { + "id": "HP:0002094", + "label": "Dyspnea" + } + }, + { + "type": { + "id": "HP:0001945", + "label": "Fever" + } + }, + { + "type": { + "id": "HP:0003521", + "label": "Disproportionate short-trunk short stature" + } + }, + { + "type": { + "id": "HP:0002213", + "label": "Fine hair" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0002938", + "label": "Lumbar hyperlordosis" + } + }, + { + "type": { + "id": "HP:0000822", + "label": "Hypertension" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0033423", + "label": "Pulmonary arterial hypertension with positive acute response to NO challenge" + } + }, + { + "type": { + "id": "HP:0002925", + "label": "Elevated circulating thyroid-stimulating hormone concentration" + } + }, + { + "type": { + "id": "HP:0032570", + "label": "Pontine ischemic lacunes" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011462", + "label": "Young adult onset" + } + } + }, + { + "type": { + "id": "HP:0030885", + "label": "Recurrent parasitic infections" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0002326", + "label": "Transient ischemic attack" + } + }, + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + }, + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0001776", + "label": "Bilateral talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0000414", + "label": "Bulbous nose" + } + }, + { + "type": { + "id": "HP:0008689", + "label": "Bilateral cryptorchidism" + } + }, + { + "type": { + "id": "HP:0011369", + "label": "Mongolian blue spot" + } + }, + { + "type": { + "id": "HP:0008677", + "label": "Congenital nephrotic syndrome" + } + }, + { + "type": { + "id": "HP:0011344", + "label": "Severe global developmental delay" + } + }, + { + "type": { + "id": "HP:0001518", + "label": "Small for gestational age" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:242900", + "label": "Immunoosseous dysplasia, Schimke type" + } + } + ], + "metaData": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Immunoskeletal_dysplasia_with_neurodevelopmental_abnormalities_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "immunoskeletal_dysplasia_with_neurodevelopmental_abnormalities", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003083", + "label": "Dislocated radial head" + } + }, + { + "type": { + "id": "HP:0000954", + "label": "Single transverse palmar crease" + } + }, + { + "type": { + "id": "HP:0000448", + "label": "Prominent nose" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0010938", + "label": "Abnormal external nose morphology" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000339", + "label": "Pugilistic facies" + } + }, + { + "type": { + "id": "HP:0006887", + 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+++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Inclusion_body_myopathy_with_early_onset_Paget_disease_without_frontotemporal_dementia_3_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "inclusion_body_myopathy_with_early-onset_paget_disease_without_frontotemporal_dementia_3", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P54Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003155", + "label": "Elevated circulating alkaline phosphatase concentration" + } + }, + { + "type": { + "id": "HP:0009027", + "label": "Foot dorsiflexor weakness" + } + }, + { + "type": { + "id": "HP:0003805", + "label": "Rimmed vacuoles" + } + }, + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615424", + "label": "Inclusion body myopathy with early-onset Paget disease without frontotemporal dementia 3" + } + } + ], + "metaData": { + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Infantile_cataract_skin_abnormalities_glutamate_excess_and_impaired_intellectual_development_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Infantile_cataract_skin_abnormalities_glutamate_excess_and_impaired_intellectual_development_patient_1.json new file mode 100644 index 000000000..83c744b1c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Infantile_cataract_skin_abnormalities_glutamate_excess_and_impaired_intellectual_development_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "infantile_cataract,_skin_abnormalities,_glutamate_excess,_and_impaired_intellectual_development", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002188", + "label": "Delayed CNS myelination" + } + }, + { + "type": { + "id": "HP:0005484", + "label": "Secondary microcephaly" + } + }, + { + "type": { + "id": "HP:0008936", + "label": "Axial hypotonia" + } + }, + { + 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Infantile_liver_failure_syndrome_1_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "infantile_liver_failure_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0003128", + "label": "Lactic acidosis" + } + }, + { + "type": { + "id": "HP:0003256", + "label": "Abnormality of the coagulation cascade" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0001403", + "label": "Macrovesicular hepatic steatosis" + } + }, + { + "type": { + "id": "HP:0031964", + "label": "Elevated circulating alanine aminotransferase concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615438", + "label": "Infantile liver failure syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:15:01.185666Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Infantile_liver_failure_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Infantile_liver_failure_syndrome_2_patient_1.json new file mode 100644 index 000000000..9d4526048 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Infantile_liver_failure_syndrome_2_patient_1.json @@ -0,0 +1,86 @@ +{ + "id": "infantile_liver_failure_syndrome_2", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008151", + "label": "Prolonged prothrombin time" + }, + "modifiers": [ + { + "id": "HP:0025215", + "label": "Triggered by febrile illness" + } + ] + }, + { + "type": { + "id": "HP:0001943", + "label": "Hypoglycemia" + } + }, + { + "type": { + "id": "HP:0002013", + "label": "Vomiting" + } + }, + { + "type": { + "id": "HP:0006554", + "label": "Acute hepatic failure" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0002480", + "label": "Hepatic encephalopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616483", + "label": "Infantile liver failure syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:22:15.570989Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Infantile_liver_failure_syndrome_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Infantile_liver_failure_syndrome_3_patient_1.json new file mode 100644 index 000000000..028008634 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Infantile_liver_failure_syndrome_3_patient_1.json @@ -0,0 +1,86 @@ +{ + "id": "infantile_liver_failure_syndrome_3", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0006554", + "label": "Acute hepatic failure" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0008281", + "label": "Acute hyperammonemia" + } + }, + { + "type": { + "id": "HP:0004629", + "label": "Small cervical vertebral bodies" + } + }, + { + "type": { + "id": "HP:0003272", + "label": "Abnormal hip bone morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618641", + "label": "Infantile liver failure syndrome 3" + } + } + ], + "metaData": { + "created": "2024-06-12T01:59:25.794107Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Infantile_onset_multisystem_neurologic_endocrine_and_pancreatic_disease_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Infantile_onset_multisystem_neurologic_endocrine_and_pancreatic_disease_2_patient_1.json new file mode 100644 index 000000000..f54614d31 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Infantile_onset_multisystem_neurologic_endocrine_and_pancreatic_disease_2_patient_1.json @@ -0,0 +1,153 @@ +{ + "id": "infantile-onset_multisystem_neurologic,_endocrine,_and_pancreatic_disease_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011232", + "label": "Infra-orbital fold" + } + }, + { + "type": { + "id": "HP:0002194", + "label": "Delayed gross motor development" + } + }, + { + "type": { + "id": "HP:0006577", + "label": "Macronodular cirrhosis" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0012337", + "label": "Abnormal 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hepatic steatosis" + } + }, + { + "type": { + "id": "HP:0000293", + "label": "Full cheeks" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619418", + "label": "Infantile-onset multisystem neurologic, endocrine, and pancreatic disease 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:31:03.579898Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Infantile_sialic_acid_storage_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Infantile_sialic_acid_storage_disease_patient_1.json new file mode 100644 index 000000000..24631b123 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Infantile_sialic_acid_storage_disease_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "infantile_sialic_acid_storage_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001789", + "label": "Hydrops fetalis" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0000286", + "label": "Epicanthus" + } + }, + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0002908", + "label": "Conjugated hyperbilirubinemia" + } + }, + { + "type": { + "id": "HP:0001640", + "label": "Cardiomegaly" + } + }, + { + "type": { + "id": "HP:0000938", + "label": "Osteopenia" + } + }, + { + "type": { + "id": "HP:0000212", + "label": "Gingival overgrowth" + } + }, + { + "type": { + "id": "HP:0001922", + "label": "Vacuolated lymphocytes" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0000280", + "label": "Coarse facial features" + } + }, + { + "type": { + "id": "HP:0012211", + "label": "Abnormal renal physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:269920", + "label": "Infantile sialic acid storage disease" + } + } + ], + "metaData": { + "created": "2024-06-11T22:50:05.170507Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Infections_recurrent_with_encephalopathy_hepatic_dysfunction_and_cardiovascular_malformations_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Infections_recurrent_with_encephalopathy_hepatic_dysfunction_and_cardiovascular_malformations_patient_1.json new file mode 100644 index 000000000..7bdd83761 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Infections_recurrent_with_encephalopathy_hepatic_dysfunction_and_cardiovascular_malformations_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "infections,_recurrent,_with_encephalopathy,_hepatic_dysfunction,_and_cardiovascular_malformations", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002719", + "label": "Recurrent infections" + } + }, + { + "type": { + "id": "HP:0031964", + "label": "Elevated circulating alanine aminotransferase concentration" + } + }, + { + "type": { + "id": "HP:0001298", + "label": "Encephalopathy" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613759", + "label": "Infections, recurrent, with encephalopathy, hepatic dysfunction, and cardiovascular malformations" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:34.614143Z", + "createdBy": "phenotype2phenopacket", + "resources": 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0002027", + "label": "Abdominal pain" + } + }, + { + "type": { + "id": "HP:0001824", + "label": "Weight loss" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:191390", + "label": "Inflammatory bowel disease 11" + } + } + ], + "metaData": { + "created": "2024-06-11T17:43:40.764762Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_bowel_disease_13_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_bowel_disease_13_patient_1.json new file mode 100644 index 000000000..5b5605ee3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_bowel_disease_13_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "inflammatory_bowel_disease_13", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002037", + "label": "Inflammation of the large intestine" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612244", + "label": "Inflammatory bowel disease 13" + } + } + ], + "metaData": { + "created": "2024-06-11T22:14:00.452411Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_bowel_disease_19_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_bowel_disease_19_patient_1.json new file mode 100644 index 000000000..791429e25 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_bowel_disease_19_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "inflammatory_bowel_disease_19", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002037", + "label": "Inflammation of the large intestine" + } + } + ], + "diseases": [ + { + "term": { + "id": 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_bowel_disease_1_Crohn_disease_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "inflammatory_bowel_disease_1,_crohn_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012719", + "label": "Functional abnormality of the gastrointestinal tract" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0100280", + "label": "Crohn's disease" + } + }, + { + "type": { + "id": "HP:0000163", + "label": "Abnormal oral cavity morphology" + } + }, + { + "type": { + "id": "HP:0012647", + "label": "Abnormal inflammatory response" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:266600", + "label": "Inflammatory bowel disease 1, Crohn disease" + } + } + ], + "metaData": { + "created": "2024-06-11T18:16:48.489238Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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"type": { + "id": "HP:0100279", + "label": "Ulcerative colitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612354", + "label": "Inflammatory bowel disease 21" + } + } + ], + "metaData": { + "created": "2024-06-11T22:51:30.504635Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_bowel_disease_25_early_onset_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_bowel_disease_25_early_onset_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..58efa5a19 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_bowel_disease_25_early_onset_autosomal_recessive_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "inflammatory_bowel_disease_25,_early_onset,_autosomal_recessive", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025084", + "label": "Folliculitis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612567", + "label": "Inflammatory bowel disease 25, early onset, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T17:42:48.491548Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_bowel_disease_28_early_onset_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_bowel_disease_28_early_onset_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..7d929df43 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_bowel_disease_28_early_onset_autosomal_recessive_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "inflammatory_bowel_disease_28,_early_onset,_autosomal_recessive", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0000155", + "label": "Oral ulcer" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0000999", + "label": "Pyoderma" + } + }, + { + "type": { + "id": "HP:0002573", + "label": "Hematochezia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613148", + "label": "Inflammatory bowel disease 28, early onset, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T21:26:41.246440Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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"type": { + "id": "HP:0100280", + "label": "Crohn's disease" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618077", + "label": "Inflammatory bowel disease 29" + } + } + ], + "metaData": { + "created": "2024-06-11T18:07:43.026776Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_bowel_disease_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_bowel_disease_3_patient_1.json new file mode 100644 index 000000000..3660eadf1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_bowel_disease_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "inflammatory_bowel_disease_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100279", + "label": "Ulcerative colitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604519", + "label": "Inflammatory bowel disease 3" + } + } + ], + "metaData": { + "created": "2024-06-11T23:43:52.043253Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_bowel_disease_Crohn_disease_30_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_bowel_disease_Crohn_disease_30_patient_1.json new file mode 100644 index 000000000..725f3044a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_bowel_disease_Crohn_disease_30_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "inflammatory_bowel_disease_(crohn_disease)_30", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025085", + "label": "Bloody diarrhea" + } + }, + { + "type": { + "id": "HP:0005263", + "label": "Gastritis" + } + }, + { + "type": { + "id": "HP:0002243", + "label": "Protein-losing enteropathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619079", + "label": "Inflammatory bowel disease (Crohn disease) 30" + } + } + ], + "metaData": { + "created": "2024-06-11T20:56:28.720176Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_bowel_disease_immunodeficiency_and_encephalopathy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_bowel_disease_immunodeficiency_and_encephalopathy_patient_1.json new file mode 100644 index 000000000..96374e253 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_bowel_disease_immunodeficiency_and_encephalopathy_patient_1.json @@ -0,0 +1,140 @@ +{ + "id": "inflammatory_bowel_disease,_immunodeficiency,_and_encephalopathy", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025085", + "label": "Bloody diarrhea" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0002521", + "label": "Hypsarrhythmia" + } + }, + { + "type": { + "id": "HP:0032794", + "label": "Myoclonic seizure" + } + }, + { + "type": { + "id": "HP:0009789", + "label": "Perianal abscess" + }, + "onset": { + "ontologyClass": { + 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100644 index 000000000..add6570c0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_bowel_disease_infantile_ulcerative_colitis_31_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "inflammatory_bowel_disease_(infantile_ulcerative_colitis)_31", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001974", + "label": "Leukocytosis" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0100279", + "label": "Ulcerative colitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619398", + "label": "Inflammatory bowel disease (infantile ulcerative colitis) 31" + } + } + ], + "metaData": { + "created": "2024-06-11T23:31:53.237808Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": 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of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_skin_and_bowel_disease_neonatal_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_skin_and_bowel_disease_neonatal_1_patient_1.json new file mode 100644 index 000000000..4aec31f7e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_skin_and_bowel_disease_neonatal_1_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "inflammatory_skin_and_bowel_disease,_neonatal,_1", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001019", + "label": "Erythroderma" + } + }, + { + "type": { + "id": "HP:0025085", + "label": "Bloody diarrhea" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614328", + "label": "Inflammatory skin and bowel 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Inflammatory_skin_and_bowel_disease_neonatal_2_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "inflammatory_skin_and_bowel_disease,_neonatal,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004906", + "label": "Hypernatremic dehydration" + } + }, + { + "type": { + "id": "HP:0001525", + "label": "Severe failure to thrive" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0030972", + "label": "Abnormal systemic blood pressure" + } + }, + { + "type": { + "id": "HP:0100847", + "label": "Palmoplantar pustulosis" + } + }, + { + "type": { + "id": "HP:0005208", + "label": "Secretory diarrhea" + } + }, + { + "type": { + "id": "HP:0007840", + "label": "Long upper eyelashes" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616069", + "label": "Inflammatory skin and bowel disease, neonatal, 2" + } + } + ], + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Infundibulopelvic_dysgenesis_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "infundibulopelvic_dysgenesis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002907", + "label": "Microscopic hematuria" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600989", + "label": "Infundibulopelvic dysgenesis" + } + } + ], + "metaData": { + "created": "2024-06-11T22:56:15.397339Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Inosine_phosphorylase_deficiency_immune_defect_due_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Inosine_phosphorylase_deficiency_immune_defect_due_to_patient_1.json new file mode 100644 index 000000000..3434e7744 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Inosine_phosphorylase_deficiency_immune_defect_due_to_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "inosine_phosphorylase_deficiency,_immune_defect_due_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002715", + "label": "Abnormality of the immune system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:243080", + "label": "Inosine phosphorylase deficiency, immune defect due to" + } + } + ], + "metaData": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Insect_stings_hypersensitivity_to_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "insect_stings,_hypersensitivity_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000951", + "label": "Abnormality of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:147540", + "label": "Insect stings, hypersensitivity to" + } + } + ], + "metaData": { + "created": "2024-06-11T21:22:04.268758Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Insensitivity_to_pain_congenital_with_anhidrosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Insensitivity_to_pain_congenital_with_anhidrosis_patient_1.json new file mode 100644 index 000000000..9f2aaa034 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Insensitivity_to_pain_congenital_with_anhidrosis_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "insensitivity_to_pain,_congenital,_with_anhidrosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002754", + "label": "Osteomyelitis" + } + }, + { + "type": { + "id": "HP:0000970", + "label": "Anhidrosis" + } + }, + { + "type": { + "id": "HP:0001954", + "label": "Recurrent fever" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + }, + { + "type": { + "id": "HP:0000559", + "label": 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"type": { + "id": "HP:0007249", + "label": "Decreased number of small peripheral myelinated nerve fibers" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:256800", + "label": "Insensitivity to pain, congenital, with anhidrosis" + } + } + ], + "metaData": { + "created": "2024-06-11T21:51:34.917533Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Insulin_Like_growth_factor_I_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Insulin_Like_growth_factor_I_deficiency_patient_1.json new file mode 100644 index 000000000..2a76b88f8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Insulin_Like_growth_factor_I_deficiency_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "insulin-like_growth_factor_i_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002750", + "label": "Delayed skeletal maturation" + } + }, + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" + } + }, + { + "type": { + "id": "HP:0006889", + "label": "Intellectual disability, borderline" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608747", + "label": "Insulin-Like growth 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_14_patient_1.json new file mode 100644 index 000000000..d4ff394f7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_14_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "intellectual_developmental_disorder,_autosomal_recessive_14", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614020", + "label": "Intellectual developmental disorder, autosomal recessive 14" + } + } + ], + "metaData": { + "created": "2024-06-11T21:12:29.522985Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_16_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_16_patient_1.json new file mode 100644 index 000000000..c997f7ea7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_16_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "intellectual_developmental_disorder,_autosomal_recessive_16", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614208", + "label": "Intellectual developmental disorder, autosomal recessive 16" + } + } + ], + "metaData": { + "created": "2024-06-11T21:41:47.323899Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_19_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_19_patient_1.json new file mode 100644 index 000000000..ad93090b0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_19_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "intellectual_developmental_disorder,_autosomal_recessive_19", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002342", + "label": "Intellectual disability, moderate" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614343", + "label": "Intellectual developmental disorder, autosomal recessive 19" + } + } + ], + "metaData": { + "created": "2024-06-11T21:23:02.184601Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": 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"intellectual_developmental_disorder,_autosomal_recessive_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:249500", + "label": "Intellectual developmental disorder, autosomal recessive 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:32:39.410336Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_24_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_24_patient_1.json new file mode 100644 index 000000000..9e95ed805 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_24_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "intellectual_developmental_disorder,_autosomal_recessive_24", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0033128", + "label": "Delayed ability to crawl" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614345", + "label": "Intellectual developmental disorder, autosomal recessive 24" + } + } + ], + "metaData": { + "created": "2024-06-11T22:10:13.886454Z", + "createdBy": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_2_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "intellectual_developmental_disorder,_autosomal_recessive_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0031936", + "label": "Delayed ability to walk" + } + }, + { + "type": { + "id": "HP:0012170", + "label": "Nail-biting" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607417", + "label": "Intellectual developmental disorder, autosomal recessive 2" + } + } + ], + "metaData": { + "created": "2024-06-12T02:19:27.363851Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_34_with_variant_lissencephaly_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "intellectual_developmental_disorder,_autosomal_recessive_34,_with_variant_lissencephaly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0002536", + "label": "Abnormal cortical gyration" + } + }, + { + "type": { + "id": "HP:0004482", + "label": "Relative macrocephaly" + } + }, + { + "type": { + "id": "HP:0034434", + "label": "Abnormal communication" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614499", + "label": "Intellectual developmental disorder, autosomal recessive 34, with variant lissencephaly" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "intellectual_developmental_disorder,_autosomal_recessive_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608443", + "label": "Intellectual developmental disorder, autosomal recessive 3" + } + } + ], + "metaData": { + "created": "2024-06-11T22:55:35.705140Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": 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"label": "Recurrent pneumonia" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0000268", + "label": "Dolichocephaly" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000733", + "label": "Motor stereotypy" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0000278", + "label": "Retrognathia" + } + }, + { + "type": { + "id": "HP:0002197", + "label": "Generalized-onset seizure" + } + }, + { + "type": { + "id": "HP:0000256", + "label": "Macrocephaly" + } + }, + { + "type": { + "id": "HP:0000455", + "label": "Broad nasal tip" + } + }, + { + "type": { + "id": "HP:0001433", + "label": "Hepatosplenomegaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615637", + "label": "Intellectual developmental disorder, autosomal recessive 41" + } + } + ], + "metaData": { + "created": "2024-06-11T18:49:40.718872Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_43_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_43_patient_1.json new file mode 100644 index 000000000..5086b11e1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_43_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "intellectual_developmental_disorder,_autosomal_recessive_43", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0000455", + "label": "Broad nasal tip" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0002553", + "label": "Highly arched eyebrow" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0012736", + "label": "Profound global developmental delay" + } + }, + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0001252", + "label": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_44_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_44_patient_1.json new file mode 100644 index 000000000..afacb21d2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_44_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "intellectual_developmental_disorder,_autosomal_recessive_44", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615942", + "label": "Intellectual developmental disorder, autosomal 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_45_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "intellectual_developmental_disorder,_autosomal_recessive_45", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000664", + "label": "Synophrys" + } + }, + { + "type": { + "id": "HP:0000414", + "label": "Bulbous nose" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0000159", + "label": "Abnormal lip morphology" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615979", + "label": "Intellectual developmental disorder, autosomal recessive 45" + } + } + ], + "metaData": { + "created": "2024-06-11T23:50:17.863384Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_4_patient_1.json new file mode 100644 index 000000000..f8cfbdf47 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "intellectual_developmental_disorder,_autosomal_recessive_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611107", + "label": "Intellectual developmental disorder, autosomal recessive 4" + } + } + ], + "metaData": { + "created": "2024-06-11T22:51:55.050995Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_54_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_54_patient_1.json new file mode 100644 index 000000000..d509622e5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_54_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "intellectual_developmental_disorder,_autosomal_recessive_54", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617028", + "label": "Intellectual developmental disorder, autosomal recessive 54" + } + } + ], + "metaData": { + "created": "2024-06-11T23:37:29.030485Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", 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"intellectual_developmental_disorder,_autosomal_recessive_59", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000718", + "label": "Aggressive behavior" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617323", + "label": "Intellectual developmental disorder, autosomal recessive 59" + } + } + ], + "metaData": { + "created": "2024-06-11T20:40:34.756954Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_5_patient_1.json new file mode 100644 index 000000000..49e0d869e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_autosomal_recessive_5_patient_1.json @@ -0,0 +1,218 @@ +{ + "id": "intellectual_developmental_disorder,_autosomal_recessive_5", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P68Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000276", + "label": "Long face" + } + }, + { + "type": { + "id": "HP:0001276", + "label": "Hypertonia" + } + }, + { + "type": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_with_abnormal_behavior_microcephaly_and_short_stature_patient_1.json new file mode 100644 index 000000000..1d23f7570 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_with_abnormal_behavior_microcephaly_and_short_stature_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "intellectual_developmental_disorder_with_abnormal_behavior,_microcephaly,_and_short_stature", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000179", + "label": "Thick lower lip vermilion" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0012444", + "label": "Brain atrophy" + } + }, + { + "type": { + "id": "HP:0000322", + "label": "Short philtrum" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_with_autism_and_macrocephaly_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "intellectual_developmental_disorder_with_autism_and_macrocephaly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002312", + "label": "Clumsiness" + } + }, + { + "type": { + "id": "HP:4000081", + "label": "Reduced production of gestures" + } + }, + { + "type": { + "id": "HP:0000194", + "label": "Open mouth" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0002019", + "label": "Constipation" + } + }, + { + "type": { + "id": "HP:0031874", + "label": "Late chronotype" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0000494", 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_with_autistic_features_and_language_delay_with_or_without_seizures_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "intellectual_developmental_disorder_with_autistic_features_and_language_delay,_with_or_without_seizures", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P4Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000733", + "label": "Motor stereotypy" + } + }, + { + "type": { + "id": "HP:0032893", + "label": "Gastroenteritis-related afebrile seizure" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:5200305", + "label": "Paradoxical insomnia" + } + }, + { + "type": { + "id": "HP:0002497", + "label": "Spastic ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_with_behavioral_abnormalities_and_craniofacial_dysmorphism_with_or_without_seizures_patient_1.json new file mode 100644 index 000000000..d6b829988 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_with_behavioral_abnormalities_and_craniofacial_dysmorphism_with_or_without_seizures_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "intellectual_developmental_disorder_with_behavioral_abnormalities_and_craniofacial_dysmorphism_with_or_without_seizures", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000739", + "label": "Anxiety" + } + }, + { + "type": { + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0020209", + "label": "Hot water-induced seizure" + } + }, + { + "type": { + "id": "HP:0001182", + "label": "Tapered finger" + } + }, + { + "type": { + "id": "HP:0005922", + "label": "Abnormal hand morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618725", + "label": "Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures" + } + } + ], + "metaData": { + "created": "2024-06-11T22:41:26.978036Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_with_cardiac_arrhythmia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_with_cardiac_arrhythmia_patient_1.json new file mode 100644 index 000000000..18cbb8c67 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_with_cardiac_arrhythmia_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "intellectual_developmental_disorder_with_cardiac_arrhythmia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001688", + "label": "Sinus bradycardia" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0007859", + "label": "Congenital horizontal nystagmus" + } + }, + { 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_with_cardiac_defects_and_dysmorphic_facies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_with_cardiac_defects_and_dysmorphic_facies_patient_1.json new file mode 100644 index 000000000..8032201d3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_with_cardiac_defects_and_dysmorphic_facies_patient_1.json @@ -0,0 +1,243 @@ +{ + "id": "intellectual_developmental_disorder_with_cardiac_defects_and_dysmorphic_facies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009748", + "label": "Large earlobe" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0002069", + "label": "Bilateral tonic-clonic seizure" + } + }, + { + "type": { + "id": "HP:0000664", + "label": "Synophrys" + } + }, + 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of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_with_or_without_epilepsy_or_cerebellar_ataxia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_with_or_without_epilepsy_or_cerebellar_ataxia_patient_1.json new file mode 100644 index 000000000..71e819f45 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_with_or_without_epilepsy_or_cerebellar_ataxia_patient_1.json @@ -0,0 +1,152 @@ +{ + "id": "intellectual_developmental_disorder_with_or_without_epilepsy_or_cerebellar_ataxia", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010818", + "label": "Generalized tonic seizure" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:5200240", + "label": 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newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_with_short_stature_and_variable_skeletal_anomalies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_with_short_stature_and_variable_skeletal_anomalies_patient_1.json new file mode 100644 index 000000000..8c5d523de --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intellectual_developmental_disorder_with_short_stature_and_variable_skeletal_anomalies_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "intellectual_developmental_disorder_with_short_stature_and_variable_skeletal_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0002310", + "label": "Orofacial dyskinesia" + } + }, + { + "type": { + "id": "HP:0011344", + "label": "Severe 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Intestinal_pseudoobstruction_neuronal_chronic_idiopathic_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intestinal_pseudoobstruction_neuronal_chronic_idiopathic_X_linked_patient_1.json new file mode 100644 index 000000000..7efea7345 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intestinal_pseudoobstruction_neuronal_chronic_idiopathic_X_linked_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "intestinal_pseudoobstruction,_neuronal,_chronic_idiopathic,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030889", + "label": "Congenital shortened small intestine" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0008872", + "label": "Feeding difficulties in infancy" + } + }, + { + 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file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Intracranial_hypertension_idiopathic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intracranial_hypertension_idiopathic_patient_1.json new file mode 100644 index 000000000..f51581a91 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intracranial_hypertension_idiopathic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "intracranial_hypertension,_idiopathic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002516", + "label": "Increased intracranial pressure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:243200", + "label": "Intracranial hypertension, idiopathic" + } + } + ], + "metaData": { + "created": "2024-06-11T22:38:18.414431Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Intrauterine_growth_retardation_metaphyseal_dysplasia_adrenal_hypoplasia_congenita_genital_anomalies_and_immunodeficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intrauterine_growth_retardation_metaphyseal_dysplasia_adrenal_hypoplasia_congenita_genital_anomalies_and_immunodeficiency_patient_1.json new file mode 100644 index 000000000..7c6e9f73e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intrauterine_growth_retardation_metaphyseal_dysplasia_adrenal_hypoplasia_congenita_genital_anomalies_and_immunodeficiency_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "intrauterine_growth_retardation,_metaphyseal_dysplasia,_adrenal_hypoplasia_congenita,_genital_anomalies,_and_immunodeficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008244", + "label": "Congenital adrenal hypoplasia" + } + }, + { + "type": { + "id": "HP:0005871", + "label": "Metaphyseal chondrodysplasia" + } + }, + { + "type": { + "id": "HP:0430000", + "label": "Abnormal frontal bone morphology" + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + }, + { + "type": { + "id": "HP:0000032", + "label": "Abnormal male external genitalia morphology" + } + }, + { + "type": { + "id": "HP:0011408", + "label": "Moderate intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0005390", + "label": "Recurrent opportunistic infections" + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + }, + { + "type": { + "id": "HP:0000032", + "label": "Abnormal male external genitalia morphology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618336", + "label": "Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T23:13:13.502684Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Intrauterine_growth_retardation_metaphyseal_dysplasia_adrenal_hypoplasiacongenita_and_genital_anomalies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intrauterine_growth_retardation_metaphyseal_dysplasia_adrenal_hypoplasiacongenita_and_genital_anomalies_patient_1.json new file mode 100644 index 000000000..84c1ac2a0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intrauterine_growth_retardation_metaphyseal_dysplasia_adrenal_hypoplasiacongenita_and_genital_anomalies_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "intrauterine_growth_retardation,_metaphyseal_dysplasia,_adrenal_hypoplasiacongenita,_and_genital_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002750", + "label": "Delayed skeletal maturation" + } + }, + { + "type": { + "id": "HP:0000835", + "label": "Adrenal hypoplasia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0000047", + "label": "Hypospadias" + } + }, + { + "type": { + "id": "HP:0000938", + "label": "Osteopenia" + } + }, + { + "type": { + "id": "HP:0100255", + "label": "Metaphyseal dysplasia" + } + }, + { + "type": { + "id": "HP:0008897", + "label": "Postnatal growth retardation" + } + }, + { + "type": { + "id": "HP:0003196", + "label": "Short nose" + } + }, + { + "type": { + "id": "HP:0000824", + "label": "Decreased response to growth hormone stimulation test" + } + }, + { + "type": { + "id": "HP:0008883", + "label": "Mild intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0011314", + "label": "Abnormal long bone morphology" + } + }, + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + }, + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614732", + "label": "Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasiacongenita, and genital anomalies" + } + } + ], + "metaData": { + "created": "2024-06-11T23:15:15.500442Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Intrauterine_growth_retardation_with_increased_mitomycin_C_sensitivity_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intrauterine_growth_retardation_with_increased_mitomycin_C_sensitivity_patient_1.json new file mode 100644 index 000000000..a744e2045 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intrauterine_growth_retardation_with_increased_mitomycin_C_sensitivity_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "intrauterine_growth_retardation_with_increased_mitomycin_c_sensitivity", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600546", + "label": "Intrauterine growth retardation with increased mitomycin C sensitivity" + } + } + ], + "metaData": { + "created": "2024-06-11T22:47:14.626002Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Intrinsic_factor_and_R_binder_combined_congenital_deficiency_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intrinsic_factor_and_R_binder_combined_congenital_deficiency_of_patient_1.json new file mode 100644 index 000000000..b7e643ff0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intrinsic_factor_and_R_binder_combined_congenital_deficiency_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "intrinsic_factor_and_r_binder,_combined_congenital_deficiency_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001939", + "label": "Abnormality of metabolism/homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:243320", + "label": "Intrinsic factor and R binder, combined congenital deficiency of" + } + } + ], + "metaData": { + "created": "2024-06-11T18:43:28.242475Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Intrinsic_factor_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intrinsic_factor_deficiency_patient_1.json new file mode 100644 index 000000000..8ad10bfe7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Intrinsic_factor_deficiency_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "intrinsic_factor_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031965", + "label": "Increased RBC distribution width" + } + }, + { + "type": { + "id": "HP:0005219", + "label": "Absence of intrinsic factor" + } + }, + { + "type": { + "id": "HP:0003401", + "label": "Paresthesia" + } + }, + { + "type": { + "id": "HP:0020181", + "label": "Reduced haptoglobin level" + } + }, + { + "type": { + "id": "HP:0005518", + "label": "Increased mean corpuscular volume" + } + }, + { + "type": { + "id": "HP:0001889", + "label": "Megaloblastic anemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:261000", + "label": "Intrinsic factor deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T23:56:12.032446Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Iridogoniodysgenesis_type_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Iridogoniodysgenesis_type_2_patient_1.json new file mode 100644 index 000000000..3a86a8dbb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Iridogoniodysgenesis_type_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "iridogoniodysgenesis,_type_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:137600", + "label": "Iridogoniodysgenesis, type 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:49:27.442453Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Iris_pigment_epithelium_anomalies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Iris_pigment_epithelium_anomalies_patient_1.json new file mode 100644 index 000000000..d3039376c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Iris_pigment_epithelium_anomalies_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "iris_pigment_epithelium_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011523", + "label": "Iris cyst" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601616", + "label": "Iris pigment epithelium anomalies" + } + } + ], + "metaData": { + "created": "2024-06-11T22:22:45.314931Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Iris_pigment_layer_cleavage_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Iris_pigment_layer_cleavage_of_patient_1.json new file mode 100644 index 000000000..05ec7488d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Iris_pigment_layer_cleavage_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "iris_pigment_layer,_cleavage_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:147610", + "label": "Iris pigment layer, cleavage of" + } + } + ], + "metaData": { + "created": "2024-06-11T20:25:45.582641Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Iron_Refractory_iron_deficiency_anemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Iron_Refractory_iron_deficiency_anemia_patient_1.json new file mode 100644 index 000000000..236ba71ea --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Iron_Refractory_iron_deficiency_anemia_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "iron-refractory_iron_deficiency_anemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011273", + "label": "Anisocytosis" + } + }, + { + "type": { + "id": "HP:0004840", + "label": "Hypochromic microcytic anemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:206200", + "label": "Iron-Refractory iron deficiency anemia" + } + } + ], + "metaData": { + "created": "2024-06-11T21:06:53.327455Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Iron_overload_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Iron_overload_susceptibility_to_patient_1.json new file mode 100644 index 000000000..3e7e05332 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Iron_overload_susceptibility_to_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "iron_overload,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003281", + "label": "Increased circulating ferritin concentration" + } + }, + { + "type": { + "id": "HP:0031877", + "label": "Elevated circulating hepcidin concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620121", + "label": "Iron overload, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T23:38:34.808734Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ischemic_stroke_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ischemic_stroke_susceptibility_to_patient_1.json new file mode 100644 index 000000000..519eee14e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ischemic_stroke_susceptibility_to_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ischemic_stroke,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001297", + "label": "Stroke" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601367", + "label": "Ischemic stroke, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T22:31:50.496164Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ischiocoxopodopatellar_syndrome_with_or_without_pulmonary_arterial_hypertension_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ischiocoxopodopatellar_syndrome_with_or_without_pulmonary_arterial_hypertension_patient_1.json new file mode 100644 index 000000000..4b69e7206 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ischiocoxopodopatellar_syndrome_with_or_without_pulmonary_arterial_hypertension_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "ischiocoxopodopatellar_syndrome_with_or_without_pulmonary_arterial_hypertension", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002999", + "label": "Patellar dislocation" + } + }, + { + "type": { + "id": "HP:0002812", + "label": "Coxa vara" + } + }, + { + "type": { + "id": "HP:0003097", + "label": "Short femur" + }, + "modifiers": [ + { + "id": "HP:0012826", + "label": "Moderate" + } + ] + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0008784", + "label": "Wide capital femoral epiphyses" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:147891", + "label": "Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension" + } + } + ], + "metaData": { + "created": "2024-06-11T17:53:57.040288Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Isobutyryl_CoA_dehydrogenase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Isobutyryl_CoA_dehydrogenase_deficiency_patient_1.json new file mode 100644 index 000000000..4a2b6f80e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Isobutyryl_CoA_dehydrogenase_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "isobutyryl-coa_dehydrogenase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001644", + "label": "Dilated cardiomyopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611283", + "label": "Isobutyryl-CoA dehydrogenase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T19:18:00.763380Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Isolated_growth_hormone_deficiency_type_III_with_agammaglobulinemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Isolated_growth_hormone_deficiency_type_III_with_agammaglobulinemia_patient_1.json new file mode 100644 index 000000000..0a8935a1f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Isolated_growth_hormone_deficiency_type_III_with_agammaglobulinemia_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "isolated_growth_hormone_deficiency,_type_iii,_with_agammaglobulinemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000024", + "label": "Prostatitis" + } + }, + { + "type": { + "id": "HP:0032101", + "label": "Unusual infection" + } + }, + { + "type": { + "id": "HP:0003561", + "label": "Birth length less than 3rd percentile" + } + }, + { + "type": { + "id": "HP:0005832", + "label": "Dysharmonic delayed bone age" + } + }, + { + "type": { + "id": "HP:0032160", + "label": "Cryptococcal meningitis" + } + }, + { + "type": { + "id": "HP:0032101", + "label": "Unusual infection" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0003095", + "label": "Septic arthritis" + } + }, + { + "type": { + "id": "HP:0011123", + "label": "Inflammatory abnormality of the skin" + } + }, + { + "type": { + "id": "HP:0001507", + "label": "Growth abnormality" + } + }, + { + "type": { + "id": "HP:0003729", + "label": "Enteroviral dermatomyositis syndrome" + } + }, + { + "type": { + "id": "HP:0030252", + "label": "Absent circulating B cells" + } + }, + { + "type": { + "id": "HP:0001412", + "label": "Enteroviral hepatitis" + } + }, + { + "type": { + "id": "HP:0001097", + "label": "Keratoconjunctivitis sicca" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:307200", + "label": "Isolated growth hormone deficiency, type III, with agammaglobulinemia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:20:07.900226Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": 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"id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010627", + "label": "Anterior pituitary hypoplasia" + } + }, + { + "type": { + "id": "HP:0003510", + "label": "Severe short stature" + } + }, + { + "type": { + "id": "HP:0000824", + "label": "Decreased response to growth hormone stimulation test" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:173100", + "label": "Isolated growth hormone deficiency, type II" + } + } + ], + "metaData": { + "created": "2024-06-11T18:12:52.678425Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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"created": "2024-06-11T17:54:59.789258Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Isovaleric_acid_inability_to_smell_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Isovaleric_acid_inability_to_smell_patient_1.json new file mode 100644 index 000000000..ced254c75 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Isovaleric_acid_inability_to_smell_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "isovaleric_acid,_inability_to_smell", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000458", + "label": "Anosmia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:243450", + "label": "Isovaleric acid, inability to smell" + } + } + ], + "metaData": { + "created": "2024-06-11T19:12:15.429322Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Isovaleric_acidemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Isovaleric_acidemia_patient_1.json new file mode 100644 index 000000000..682c69cb6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Isovaleric_acidemia_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "isovaleric_acidemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0001944", + "label": "Dehydration" + } + }, + { + "type": { + "id": "HP:0001942", + "label": "Metabolic acidosis" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:6000602", + "label": "Elevated urinary isovalerylglycine level" + } + }, + { + "type": { + "id": "HP:0002572", + "label": "Episodic vomiting" + } + }, + { + "type": { + "id": "HP:0001946", + "label": "Ketosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:243500", + "label": "Isovaleric acidemia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:03:29.218242Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Jaberi_Elahi_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Jaberi_Elahi_syndrome_patient_1.json new file mode 100644 index 000000000..244ef4140 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Jaberi_Elahi_syndrome_patient_1.json @@ -0,0 +1,213 @@ +{ + "id": "jaberi-elahi_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002079", + "label": "Hypoplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0002540", + "label": "Inability to walk" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + }, + { + "type": { + "id": "HP:0006855", + "label": "Cerebellar vermis atrophy" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0001305", + "label": "Dandy-Walker malformation" + } + }, + { + "type": { + "id": "HP:0002136", + "label": "Broad-based gait" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0002213", + "label": "Fine hair" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0001188", + "label": "Hand clenching" + } + }, + { + "type": { + "id": "HP:0045007", + "label": "Abnormal substantia nigra morphology" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0008458", + "label": "Progressive congenital scoliosis" + } + }, + { + "type": { + "id": "HP:0008963", + "label": "Tibialis muscle weakness" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + }, + { + "type": { + "id": "HP:0004779", + "label": "Brittle scalp hair" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0033049", + "label": "Globus pallidus hypointensity on susceptibility-weighted imaging" + } + }, + { + "type": { + "id": "HP:0007098", + "label": "Paroxysmal choreoathetosis" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0006889", + "label": "Intellectual disability, borderline" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617988", + "label": "Jaberi-Elahi syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:03:30.387021Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Kearns_Sayre_syndrome_patient_1.json new file mode 100644 index 000000000..430adc18b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Kearns_Sayre_syndrome_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "kearns-sayre_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003128", + "label": "Lactic acidosis" + } + }, + { + "type": { + "id": "HP:0008207", + "label": "Primary adrenal insufficiency" + } + }, + { + "type": { + "id": "HP:0000763", + "label": "Sensory neuropathy" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0000819", + "label": "Diabetes mellitus" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": 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000000000..a5eaffd1b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratitis_hereditary_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "keratitis,_hereditary", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000491", + "label": "Keratitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:148190", + "label": "Keratitis, hereditary" + } + } + ], + "metaData": { + "created": "2024-06-11T19:02:27.842074Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratitis_ichthyosis_deafness_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratitis_ichthyosis_deafness_syndrome_patient_1.json new file mode 100644 index 000000000..5fa9e5438 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratitis_ichthyosis_deafness_syndrome_patient_1.json @@ -0,0 +1,98 @@ +{ + "id": "keratitis-ichthyosis-deafness_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P4Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + }, + { + "type": { + "id": "HP:0000491", + "label": "Keratitis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0000618", + "label": "Blindness" + } + }, + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoconus_7_patient_1.json new file mode 100644 index 000000000..a2a0238d9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoconus_7_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "keratoconus_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000563", + "label": "Keratoconus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614629", + "label": "Keratoconus 7" + } + } + ], + "metaData": { + "created": "2024-06-11T20:12:24.398406Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoconus_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoconus_8_patient_1.json new file mode 100644 index 000000000..d4340da0c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoconus_8_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "keratoconus_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000563", + "label": "Keratoconus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614628", + "label": "Keratoconus 8" + } + } + ], + "metaData": { + "created": "2024-06-11T20:39:19.993079Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoconus_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoconus_9_patient_1.json new file mode 100644 index 000000000..f9521cff9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoconus_9_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "keratoconus_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100689", + "label": "Decreased corneal thickness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617928", + "label": "Keratoconus 9" + } + } + ], + "metaData": { + "created": "2024-06-11T20:48:15.058654Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoconus_posticus_circumscriptus_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoconus_posticus_circumscriptus_patient_1.json new file mode 100644 index 000000000..47d663064 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoconus_posticus_circumscriptus_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "keratoconus_posticus_circumscriptus", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000465", + "label": "Webbed neck" + } + }, + { + "type": { + "id": "HP:0000563", + "label": "Keratoconus" + } + }, + { + "type": { + "id": "HP:0004209", + "label": "Clinodactyly of the 5th finger" + } + }, + { + "type": { + "id": "HP:0000010", + "label": "Recurrent urinary tract infections" + } + }, + { + "type": { + "id": "HP:0005640", + "label": "Abnormal vertebral segmentation and fusion" + } + }, + { + "type": { + "id": "HP:0005852", + "label": "Limited elbow extension and supination" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0006008", + "label": "Unilateral brachydactyly" + } + }, + { + "type": { + "id": "HP:0011344", + "label": "Severe global developmental delay" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:244600", + "label": "Keratoconus posticus circumscriptus" + } + } + ], + "metaData": { + "created": "2024-06-11T19:31:08.221623Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoderma_ichthyosis_deafness_syndrome_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoderma_ichthyosis_deafness_syndrome_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..0cc3b65ed --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoderma_ichthyosis_deafness_syndrome_autosomal_recessive_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "keratoderma-ichthyosis-deafness_syndrome,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007545", + "label": "Congenital palmoplantar hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620009", + "label": "Keratoderma-ichthyosis-deafness syndrome, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T22:21:43.280345Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoderma_palmoplantar_norrbotten_Recessive_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoderma_palmoplantar_norrbotten_Recessive_type_patient_1.json new file mode 100644 index 000000000..a5ecef919 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoderma_palmoplantar_norrbotten_Recessive_type_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "keratoderma,_palmoplantar,_norrbotten_recessive_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200034", + "label": "Papule" + } + }, + { + "type": { + "id": "HP:0000962", + "label": "Hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:244850", + "label": "Keratoderma, palmoplantar, norrbotten Recessive type" + } + } + ], + "metaData": { + "created": "2024-06-11T17:50:11.424794Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoderma_palmoplantar_punctate_type_IB_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoderma_palmoplantar_punctate_type_IB_patient_1.json new file mode 100644 index 000000000..3518d2fd9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoderma_palmoplantar_punctate_type_IB_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "keratoderma,_palmoplantar,_punctate_type_ib", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007530", + "label": "Punctate palmoplantar hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614936", + "label": "Keratoderma, palmoplantar, punctate type IB" + } + } + ], + "metaData": { + "created": "2024-06-11T17:56:16.998748Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoderma_palmoplantar_with_deafness_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoderma_palmoplantar_with_deafness_patient_1.json new file mode 100644 index 000000000..e12d1ba20 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoderma_palmoplantar_with_deafness_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "keratoderma,_palmoplantar,_with_deafness", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000972", + "label": "Palmoplantar hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:148350", + "label": "Keratoderma, palmoplantar, with deafness" + } + } + ], + "metaData": { + "created": "2024-06-11T19:20:54.702340Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoendotheliitis_fugax_hereditaria_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoendotheliitis_fugax_hereditaria_patient_1.json new file mode 100644 index 000000000..54a39ec4e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratoendotheliitis_fugax_hereditaria_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "keratoendotheliitis_fugax_hereditaria", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100014", + "label": "Epiretinal membrane" + } + }, + { + "type": { + "id": "HP:0009926", + "label": "Epiphora" + } + }, + { + "type": { + "id": "HP:0004328", + "label": "Abnormal anterior eye segment morphology" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:148200", + "label": "Keratoendotheliitis fugax hereditaria" + } + } + ], + "metaData": { + "created": "2024-06-11T22:56:25.087277Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratolytic_winter_erythema_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratolytic_winter_erythema_patient_1.json new file mode 100644 index 000000000..fd30cc6bb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratolytic_winter_erythema_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "keratolytic_winter_erythema", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010783", + "label": "Erythema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:148370", + "label": "Keratolytic winter erythema" + } + } + ], + "metaData": { + "created": "2024-06-11T23:56:41.917416Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratosis_focal_palmoplantar_and_gingival_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratosis_focal_palmoplantar_and_gingival_patient_1.json new file mode 100644 index 000000000..a3ff583ba --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratosis_focal_palmoplantar_and_gingival_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "keratosis,_focal_palmoplantar_and_gingival", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0008399", + "label": "Circumungual hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:148730", + "label": "Keratosis, focal palmoplantar and gingival" + } + } + ], + "metaData": { + "created": "2024-06-11T19:53:32.906935Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratosis_follicularis_dwarfism_and_cerebral_atrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratosis_follicularis_dwarfism_and_cerebral_atrophy_patient_1.json new file mode 100644 index 000000000..ba3861828 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratosis_follicularis_dwarfism_and_cerebral_atrophy_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "keratosis_follicularis,_dwarfism,_and_cerebral_atrophy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + }, + { + "type": { + "id": "HP:0002011", + "label": "Morphological central nervous system abnormality" + } + }, + { + "type": { + "id": "HP:0002221", + "label": "Absent axillary hair" + } + }, + { + "type": { + "id": "HP:0007708", + "label": "Absent inner eyelashes" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:308830", + "label": "Keratosis follicularis, dwarfism, and cerebral atrophy" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:43.442148Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratosis_follicularis_spinulosa_decalvans_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratosis_follicularis_spinulosa_decalvans_X_linked_patient_1.json new file mode 100644 index 000000000..f91f61d64 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratosis_follicularis_spinulosa_decalvans_X_linked_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "keratosis_follicularis_spinulosa_decalvans,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000653", + "label": "Sparse eyelashes" + } + }, + { + "type": { + "id": "HP:0000656", + "label": "Ectropion" + } + }, + { + "type": { + "id": "HP:0008404", + "label": "Nail dystrophy" + } + }, + { + "type": { + "id": "HP:0011859", + "label": "Punctate keratitis" + } + }, + { + "type": { + "id": "HP:0000982", + "label": "Palmoplantar keratoderma" + } + }, + { + "type": { + "id": "HP:0032152", + "label": "Keratosis pilaris" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:308800", + "label": "Keratosis follicularis spinulosa decalvans, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T20:28:40.033979Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratosis_follicularis_spinulosa_decalvans_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratosis_follicularis_spinulosa_decalvans_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..08ba4a5d7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratosis_follicularis_spinulosa_decalvans_autosomal_dominant_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "keratosis_follicularis_spinulosa_decalvans,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001041", + "label": "Facial erythema" + } + }, + { + "type": { + "id": "HP:0000653", + "label": "Sparse eyelashes" + } + }, + { + "type": { + "id": "HP:0004552", + "label": "Scarring alopecia of scalp" + } + }, + { + "type": { + 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}, + { + "type": { + "id": "HP:0001795", + "label": "Hyperconvex nail" + } + }, + { + "type": { + "id": "HP:0008404", + "label": "Nail dystrophy" + } + }, + { + "type": { + "id": "HP:0007479", + "label": "Congenital nonbullous ichthyosiform erythroderma" + } + }, + { + "type": { + "id": "HP:0010765", + "label": "Palmar hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601952", + "label": "Keratosis linearis with ichthyosis congenita and sclerosing keratoderma" + } + } + ], + "metaData": { + "created": "2024-06-11T21:56:27.054074Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratosis_palmaris_et_plantaris_with_clinodactyly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratosis_palmaris_et_plantaris_with_clinodactyly_patient_1.json new file mode 100644 index 000000000..ddab64ffd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratosis_palmaris_et_plantaris_with_clinodactyly_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "keratosis_palmaris_et_plantaris_with_clinodactyly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004209", + "label": "Clinodactyly of the 5th finger" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:148520", + "label": "Keratosis palmaris et plantaris with clinodactyly" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratosis_palmoplantaris_striata_III_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "keratosis_palmoplantaris_striata_iii", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P4Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000982", + "label": "Palmoplantar keratoderma" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607654", + "label": "Keratosis palmoplantaris striata III" + } + } + ], + "metaData": { + "created": "2024-06-11T20:39:27.631860Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratosis_palmoplantaris_striata_I_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "keratosis_palmoplantaris_striata_i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000975", + "label": "Hyperhidrosis" + } + }, + { + "type": { + "id": "HP:0025080", + "label": "Orthokeratotic hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0011367", + "label": "Yellow nails" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0007501", + "label": "Streaks of hyperkeratosis along each finger onto the palm" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0008404", + "label": "Nail dystrophy" + } + }, + { + "type": { + "id": "HP:0100871", + "label": "Abnormal palm morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:148700", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratosis_pilaris_atrophicans_patient_1.json @@ -0,0 +1,86 @@ +{ + "id": "keratosis_pilaris_atrophicans", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000561", + "label": "Absent eyelashes" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0032152", + "label": "Keratosis pilaris" + } + }, + { + "type": { + "id": "HP:0200034", + "label": "Papule" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0001041", + "label": "Facial erythema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604093", + "label": "Keratosis pilaris atrophicans" + } + } + ], + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keratosis_seborrheic_somatic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "keratosis,_seborrheic,_somatic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010816", + "label": "Epidermal nevus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:182000", + "label": "Keratosis, seborrheic, somatic" + } + } + ], + "metaData": { + "created": "2024-06-11T20:22:14.137963Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Keutel_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keutel_syndrome_patient_1.json new file mode 100644 index 000000000..9c2ccf954 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Keutel_syndrome_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "keutel_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000272", + "label": "Malar flattening" + } + }, + { + "type": { + "id": "HP:0000246", + "label": "Sinusitis" + } + }, + { + "type": { + "id": "HP:0001507", + "label": "Growth abnormality" + } + }, + { + "type": { + "id": "HP:0000403", + "label": "Recurrent otitis media" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0004969", + "label": "Peripheral pulmonary artery stenosis" + } + }, + { + "type": { + "id": "HP:0001611", + "label": "Hypernasal speech" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:245150", + "label": "Keutel syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:06:19.328339Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Khan_Khan_Katsanis_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Khan_Khan_Katsanis_syndrome_patient_1.json new file mode 100644 index 000000000..2372edab2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Khan_Khan_Katsanis_syndrome_patient_1.json @@ -0,0 +1,165 @@ +{ + "id": "khan-khan-katsanis_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0000580", + "label": "Pigmentary retinopathy" + } + }, + { + "type": { + "id": "HP:0000960", + "label": "Sacral dimple" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000073", + "label": "Ureteral duplication" + } + }, + { + "type": { + "id": "HP:0034392", + "label": "Joint contracture" + } + }, + { + "type": { + "id": "HP:0000501", + "label": "Glaucoma" + } + }, + { + "type": { + "id": "HP:0001128", + "label": "Trichiasis" + } + }, + { + "type": { + "id": "HP:0002015", + "label": "Dysphagia" + } + }, + { + "type": { + "id": "HP:0000557", + "label": "Buphthalmos" + } + }, + { + "type": { + "id": "HP:0010804", + "label": "Tented upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0001320", + "label": "Cerebellar vermis hypoplasia" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0410252", + "label": "Chronic neutropenia" + } + }, + { + "type": { + "id": "HP:0033994", + "label": "Dependency on parenteral nutrition" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0000126", + "label": "Hydronephrosis" + } + }, + { + "type": { + "id": "HP:0000549", + "label": "Abnormal conjugate eye movement" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618460", + "label": "Khan-Khan-Katsanis syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:38:44.312521Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Kifafa_seizure_disorder_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Kifafa_seizure_disorder_patient_1.json new file mode 100644 index 000000000..0c0f0d172 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Kifafa_seizure_disorder_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "kifafa_seizure_disorder", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:245180", + "label": "Kifafa seizure disorder" + } + } + ], + "metaData": { + "created": "2024-06-11T18:32:36.589309Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Kilquist_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Kilquist_syndrome_patient_1.json new file mode 100644 index 000000000..6752dbbdb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Kilquist_syndrome_patient_1.json @@ -0,0 +1,158 @@ +{ + "id": "kilquist_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002566", + "label": "Intestinal malrotation" + } + }, + { + "type": { + "id": "HP:0000341", + "label": "Narrow forehead" + } + }, + { + "type": { + "id": "HP:0002020", + "label": "Gastroesophageal reflux" + } + }, + { + "type": { + "id": "HP:0012450", + "label": "Chronic constipation" + } + }, + { + "type": { + "id": "HP:0000768", + "label": "Pectus carinatum" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0000154", + "label": "Wide mouth" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0008619", + "label": "Bilateral sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0002673", + "label": "Coxa valga" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0000372", + "label": "Abnormal auditory canal morphology" + } + }, + { + "type": { + "id": "HP:0002011", + "label": "Morphological central nervous system abnormality" + } + }, + { + "type": { + "id": "HP:0011297", + "label": "Abnormal digit morphology" + } + }, + { + "type": { + "id": "HP:0011822", + "label": "Broad chin" + } + }, + { + "type": { + "id": "HP:0030791", + "label": "Abnormal jaw morphology" + } + }, + { + "type": { + "id": "HP:0000522", + "label": "Alacrima" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619080", + "label": "Kilquist syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:05:19.819583Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Kindler_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Kindler_syndrome_patient_1.json new file mode 100644 index 000000000..bd6222970 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Kindler_syndrome_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "kindler_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000704", + "label": "Periodontitis" + } + }, + { + "type": { + "id": "HP:0007488", + "label": "Diffuse skin atrophy" + } + }, + { + "type": { + "id": "HP:0001030", + "label": "Fragile skin" + } + }, + { + "type": { + "id": "HP:0009775", + "label": "Amniotic constriction ring" + } + }, + { + "type": { + "id": "HP:0031045", + "label": "Acral blistering" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0004334", + "label": "Dermal atrophy" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:173650", + "label": "Kindler syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:45:55.933421Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/King_Denborough_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/King_Denborough_syndrome_patient_1.json new file mode 100644 index 000000000..0b1321c94 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/King_Denborough_syndrome_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "king-denborough_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100295", + "label": "Muscle fiber atrophy" + } + }, + { + "type": { + "id": "HP:0008689", + "label": "Bilateral cryptorchidism" + } + }, + { + "type": { + "id": "HP:0002002", + "label": "Deep philtrum" + } + }, + { + "type": { + "id": "HP:0030319", + "label": "Weakness of facial musculature" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0000465", + "label": "Webbed neck" + } + }, + { + "type": { + "id": "HP:0009765", + "label": "Low hanging columella" + } + }, + { + "type": { + "id": "HP:0040081", + "label": "Abnormal circulating creatine kinase concentration" + } + }, + { + "type": { + "id": "HP:0001557", + "label": "Prenatal movement abnormality" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619542", + "label": "King-Denborough syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:13:52.867919Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Kleeblattschaedel_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Kleeblattschaedel_syndrome_patient_1.json new file mode 100644 index 000000000..4be2c8736 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Kleeblattschaedel_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "kleeblattschaedel_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000238", + "label": "Hydrocephalus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:148800", + "label": "Kleeblattschaedel syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:13:24.526663Z", + 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} + ], + "diseases": [ + { + "term": { + "id": "OMIM:617768", + "label": "Kleefstra syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:01:03.359665Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Kleefstra_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Kleefstra_syndrome_patient_1.json new file mode 100644 index 000000000..c8f04c94d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Kleefstra_syndrome_patient_1.json @@ -0,0 +1,110 @@ +{ + "id": "kleefstra_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P9Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + } + }, + { + "type": { + "id": "HP:0001710", + "label": "Conotruncal defect" + } + }, + { + "type": { + "id": "HP:0012368", + "label": "Flat face" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000954", + "label": "Single transverse palmar crease" + } + }, + { + "type": { + "id": "HP:0006852", + "label": "Episodic generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0000695", + "label": "Natal tooth" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Kleine_Levin_hibernation_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Kleine_Levin_hibernation_syndrome_patient_1.json new file mode 100644 index 000000000..7c13d57bc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Kleine_Levin_hibernation_syndrome_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "kleine-levin_hibernation_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001289", + "label": "Confusion" + } + }, + { + "type": { + "id": "HP:0006803", + "label": "Vivid hallucination" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:148840", + "label": "Kleine-Levin hibernation syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:20:02.903824Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Klippel_Feil_syndrome_1_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Klippel_Feil_syndrome_1_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..439d168c7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Klippel_Feil_syndrome_1_autosomal_dominant_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "klippel-feil_syndrome_1,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000410", + "label": "Mixed hearing impairment" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0007291", + "label": "Posterior fossa cyst" + } + }, + { + "type": { + "id": "HP:0000077", + "label": "Abnormality of the kidney" + } + }, + { + "type": { + "id": "HP:0006371", + "label": "Broad long bone diaphyses" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:118100", + "label": "Klippel-Feil syndrome 1, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T20:55:36.801119Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Klippel_Feil_syndrome_3_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Klippel_Feil_syndrome_3_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..990b85b49 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Klippel_Feil_syndrome_3_autosomal_dominant_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "klippel-feil_syndrome_3,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030281", + "label": "Cervical C3/C4 vertebral fusion" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613702", + "label": "Klippel-Feil syndrome 3, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T23:39:17.436464Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Klippel_Feil_syndrome_4_autosomal_recessive_with_myopathy_and_facial_dysmorphism_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Klippel_Feil_syndrome_4_autosomal_recessive_with_myopathy_and_facial_dysmorphism_patient_1.json new file mode 100644 index 000000000..179d9e8ed --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Klippel_Feil_syndrome_4_autosomal_recessive_with_myopathy_and_facial_dysmorphism_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "klippel-feil_syndrome_4,_autosomal_recessive,_with_myopathy_and_facial_dysmorphism", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + }, + { + "type": { + "id": "HP:0006837", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Kniest_dysplasia_patient_1.json @@ -0,0 +1,189 @@ +{ + "id": "kniest_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000767", + "label": "Pectus excavatum" + } + }, + { + "type": { + "id": "HP:0008905", + "label": "Rhizomelia" + } + }, + { + "type": { + "id": "HP:0000926", + "label": "Platyspondyly" + } + }, + { + "type": { + "id": "HP:0002970", + "label": "Genu varum" + } + }, + { + "type": { + "id": "HP:0000272", + "label": "Malar flattening" + } + }, + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0003417", + "label": "Coronal cleft vertebrae" + } + }, + { + "type": { + "id": "HP:0002982", + "label": "Tibial bowing" + } + }, + { + "type": { + "id": "HP:0002812", + "label": "Coxa vara" + } + }, + { + "type": { + "id": "HP:0002663", + "label": "Delayed epiphyseal ossification" + } + }, + { + "type": { + "id": "HP:0200003", + 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file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Krabbe_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Krabbe_disease_patient_1.json new file mode 100644 index 000000000..d3ab8c3d4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Krabbe_disease_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "krabbe_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002013", + "label": "Vomiting" + } + }, + { + "type": { + "id": "HP:0025013", + "label": "Decerebrate rigidity" + } + }, + { + "type": { + "id": "HP:0001276", + "label": "Hypertonia" + } + }, + { + "type": { + "id": "HP:0008936", + "label": "Axial hypotonia" + } + }, + { + "type": { + "id": "HP:0002376", + "label": "Developmental regression" + } + }, + { + "type": { + "id": "HP:0003808", + "label": "Abnormal muscle tone" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:245200", + "label": "Krabbe disease" + 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000000000..f3fab7757 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Kury_Isidor_syndrome_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "kury-isidor_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0001596", + "label": "Alopecia" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0001385", + "label": "Hip dysplasia" + } + }, + { + "type": { + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" + } + }, + { + "type": { + "id": "HP:0000729", + "label": "Autistic behavior" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0000339", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/LARYNGOMALACIA_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "laryngomalacia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002098", + "label": "Respiratory distress" + } + }, + { + "type": { + "id": "HP:0020143", + "label": "Tracheal duplication cyst" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:150280", + "label": "LARYNGOMALACIA" + } + } + ], + "metaData": { + "created": "2024-06-11T18:29:45.714019Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": 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--- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/L_2_hydroxyglutaric_aciduria_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "l-2-hydroxyglutaric_aciduria", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0040144", + "label": "L-2-hydroxyglutaric aciduria" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0002376", + "label": "Developmental regression" + } + }, + { + "type": { + "id": "HP:0002071", + "label": "Abnormality of extrapyramidal motor function" + } + }, + { + "type": { + "id": "HP:0002381", + "label": "Aphasia" + } + }, + { + "type": { + "id": "HP:0002171", + "label": "Gliosis" + } + }, + { + "type": { + "id": "HP:0040147", + "label": "L-2-hydroxyglutaric acidemia" + } + }, + { + "type": { + "id": "HP:0002283", + "label": "Global brain atrophy" + } + }, + { + "type": { + "id": "HP:0007256", + "label": "Abnormal pyramidal sign" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:236792", + "label": "L-2-hydroxyglutaric aciduria" + } + } + ], + "metaData": { + "created": "2024-06-11T18:17:48.538226Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/L_ferritin_deficiency_dominant_and_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/L_ferritin_deficiency_dominant_and_recessive_patient_1.json new file mode 100644 index 000000000..c345b8aa7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/L_ferritin_deficiency_dominant_and_recessive_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "l-ferritin_deficiency,_dominant_and_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012452", + "label": "Restless legs" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615604", + "label": "L-ferritin deficiency, dominant and recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T22:59:03.281100Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Labia_minora_incomplete_adhesion_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Labia_minora_incomplete_adhesion_of_patient_1.json new file mode 100644 index 000000000..2dd665520 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Labia_minora_incomplete_adhesion_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "labia_minora,_incomplete_adhesion_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000119", + "label": "Abnormality of the genitourinary system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:149600", + "label": "Labia minora, incomplete adhesion of" + } + } + ], + "metaData": { + "created": "2024-06-11T20:31:18.902700Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lacrimal_duct_defect_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lacrimal_duct_defect_patient_1.json new file mode 100644 index 000000000..aecfccd86 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lacrimal_duct_defect_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "lacrimal_duct_defect", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000564", + "label": "Lacrimal duct atresia" + } + }, + { + "type": { + "id": "HP:0000246", + "label": "Sinusitis" + } + }, + { + "type": { + "id": "HP:0000620", + "label": "Dacryocystitis" + } + }, + { + "type": { + "id": "HP:0031881", + "label": "Decreased tear drainage" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:149700", + "label": "Lacrimal duct defect" + } + } + ], + "metaData": { + "created": "2024-06-11T19:22:03.293611Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lacrimoauriculodentodigital_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lacrimoauriculodentodigital_syndrome_1_patient_1.json new file mode 100644 index 000000000..c1fafd7c6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lacrimoauriculodentodigital_syndrome_1_patient_1.json @@ -0,0 +1,177 @@ +{ + "id": "lacrimoauriculodentodigital_syndrome-1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0000974", + "label": 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"HP:0100583", + "label": "Corneal perforation" + } + }, + { + "type": { + "id": "HP:0009614", + "label": "Bifid proximal phalanx of the thumb" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + }, + { + "type": { + "id": "HP:0009658", + "label": "Aplasia/Hypoplasia of the phalanges of the thumb" + } + }, + { + "type": { + "id": "HP:0000198", + "label": "Absence of Stensen duct" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + }, + { + "type": { + "id": "HP:0009650", + "label": "Short distal phalanx of the thumb" + } + }, + { + "type": { + "id": "HP:0011297", + "label": "Abnormal digit morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:149730", + "label": "Lacrimoauriculodentodigital syndrome-1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:05:31.608882Z", + "createdBy": 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"lacrimoauriculodentodigital_syndrome-2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0001167", + "label": "Abnormal finger morphology" + } + }, + { + "type": { + "id": "HP:0000522", + "label": "Alacrima" + } + }, + { + "type": { + "id": "HP:0007717", + "label": "Chronic irritative conjunctivitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620192", + "label": "Lacrimoauriculodentodigital syndrome-2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:19:40.400779Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lacrimoauriculodentodigital_syndrome_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lacrimoauriculodentodigital_syndrome_3_patient_1.json new file mode 100644 index 000000000..386070d0b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lacrimoauriculodentodigital_syndrome_3_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "lacrimoauriculodentodigital_syndrome-3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009778", + "label": "Short thumb" + } + }, + { + "type": { + "id": "HP:0000670", + "label": "Carious teeth" + } + }, + { + "type": { + "id": "HP:0000286", + "label": "Epicanthus" + } + }, + { + "type": { + "id": 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"id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lactase_deficiency_congenital_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lactase_deficiency_congenital_patient_1.json new file mode 100644 index 000000000..044264b1f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lactase_deficiency_congenital_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "lactase_deficiency,_congenital", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001942", + "label": "Metabolic acidosis" + } + }, + { + "type": { + "id": "HP:0002024", + "label": "Malabsorption" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:223000", + "label": "Lactase deficiency, congenital" + } + } + ], + "metaData": { + "created": "2024-06-11T18:05:03.053819Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lactase_persistence_nonpersistence_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lactase_persistence_nonpersistence_patient_1.json new file mode 100644 index 000000000..4f5b5d75b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lactase_persistence_nonpersistence_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "lactase_persistence/nonpersistence", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002014", + "label": "Diarrhea" + } + }, + { + "type": { + "id": "HP:0025130", + "label": "Decreased small intestinal mucosa lactase level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:223100", + "label": "Lactase persistence/nonpersistence" + } + } + ], + "metaData": { + "created": "2024-06-11T20:06:20.923076Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lactate_dehydrogenase_B_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lactate_dehydrogenase_B_deficiency_patient_1.json new file mode 100644 index 000000000..97725d02e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lactate_dehydrogenase_B_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "lactate_dehydrogenase_b_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0045041", + "label": "Reduced circulating lactate dehydrogenase concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614128", + "label": "Lactate dehydrogenase B deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T18:31:36.587003Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lactic_acidosis_chronic_adult_form_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lactic_acidosis_chronic_adult_form_patient_1.json new file mode 100644 index 000000000..c6d5ef30b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lactic_acidosis_chronic_adult_form_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "lactic_acidosis,_chronic_adult_form", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004925", + "label": "Chronic lactic acidosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:150170", + "label": "Lactic acidosis, chronic adult form" + } + } + ], + "metaData": { + "created": "2024-06-11T22:23:04.004644Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lamb_Shaffer_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lamb_Shaffer_syndrome_patient_1.json new file mode 100644 index 000000000..271832c64 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lamb_Shaffer_syndrome_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "lamb-shaffer_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:5200423", + "label": "Abnormal experience of reality" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0430000", + "label": "Abnormal frontal bone morphology" + } + }, + { + "type": { + "id": "HP:0000692", + "label": "Tooth malposition" + } + }, + { + "type": { + "id": "HP:0008458", + "label": "Progressive congenital scoliosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616803", + "label": "Lamb-Shaffer syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:02:31.968665Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lambert_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lambert_syndrome_patient_1.json new file mode 100644 index 000000000..e1a676db4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lambert_syndrome_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "lambert_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000384", + "label": "Preauricular skin tag" + } + }, + { + "type": { + "id": "HP:0005248", + "label": "Intrahepatic biliary atresia" + } + }, + { + "type": { + "id": "HP:0000952", + "label": "Jaundice" + } + }, + { + "type": { + "id": "HP:0000047", + "label": "Hypospadias" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:245550", + "label": "Lambert syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:05:39.680556Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lambotte_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lambotte_syndrome_patient_1.json new file mode 100644 index 000000000..fbecd9a58 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lambotte_syndrome_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "lambotte_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0000444", + "label": "Convex nasal ridge" + } + }, + { + "type": { + "id": "HP:0040069", + "label": "Abnormal lower limb bone morphology" + } + }, + { + "type": { + "id": "HP:0001119", + "label": "Keratoglobus" + } + }, + { + "type": { + "id": "HP:0011681", + "label": "Subarterial ventricular septal defect" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:245552", + "label": "Lambotte syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:47:48.133903Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Langer_mesomelic_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Langer_mesomelic_dysplasia_patient_1.json new file mode 100644 index 000000000..8dc5ce864 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Langer_mesomelic_dysplasia_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "langer_mesomelic_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003022", + "label": "Hypoplasia of the ulna" + } + }, + { + "type": { + "id": "HP:0004991", + "label": "Rhizomelic arm shortening" + } + }, + { + "type": { + "id": "HP:0002986", + "label": "Radial bowing" + } + }, + { + "type": { + "id": "HP:0003067", + "label": "Madelung deformity" + } + }, + { + "type": { + "id": "HP:0003993", + "label": "Broad ulna" + } + }, + { + "type": { + "id": "HP:0011844", + "label": "Abnormal appendicular skeleton morphology" + } + }, + { + "type": { + "id": "HP:0005766", + "label": "Disproportionate shortening of the tibia" + } + }, + { + "type": { + "id": "HP:0009815", + "label": "Aplasia/hypoplasia of the extremities" + } + }, + { + "type": { + "id": "HP:0002973", + "label": "Abnormal forearm morphology" + } + }, + { + "type": { + "id": "HP:0003102", + "label": "Increased carrying angle" + } + }, + { + "type": { + "id": "HP:0008873", + "label": "Disproportionate short-limb short stature" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:249700", + "label": "Langer mesomelic dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T21:24:45.804727Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Language_delay_and_attention_deficit_hyperactivity_disorder_cognitive_impairment_with_or_without_cardiac_arrhythmia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Language_delay_and_attention_deficit_hyperactivity_disorder_cognitive_impairment_with_or_without_cardiac_arrhythmia_patient_1.json new file mode 100644 index 000000000..bb8306f9b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Language_delay_and_attention_deficit_hyperactivity_disorder_cognitive_impairment_with_or_without_cardiac_arrhythmia_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "language_delay_and_attention_deficit-hyperactivity_disorder/cognitive_impairment_with_or_without_cardiac_arrhythmia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001662", + "label": "Bradycardia" + } + }, + { + "type": { + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0011477", + "label": "Upbeat nystagmus" + } + }, + { + "type": { + "id": "HP:0031546", + "label": "Cardiac conduction abnormality" + } + }, + { + "type": { + "id": "HP:0034434", + "label": "Abnormal communication" + } + }, + { + "type": { + "id": "HP:0002020", + "label": "Gastroesophageal reflux" + } + }, + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0031139", + "label": "Frog-leg posture" + } + }, + { + "type": { + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" + } + }, + { + "type": { + "id": "HP:0006887", + "label": "Intellectual disability, progressive" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617182", + "label": "Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:37:32.907482Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Laron_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Laron_syndrome_patient_1.json new file mode 100644 index 000000000..b4839fe43 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Laron_syndrome_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "laron_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009826", + "label": "Limb undergrowth" + } + }, + { + "type": { + "id": "HP:0001367", + "label": "Abnormal joint morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:262500", + "label": "Laron syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:57:20.065419Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Larsen_Like_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Larsen_Like_syndrome_patient_1.json new file mode 100644 index 000000000..a9f71f51d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Larsen_Like_syndrome_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "larsen-like_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005285", + "label": "Absent nasal bridge" + } + }, + { + "type": { + "id": "HP:0000689", + "label": "Dental malocclusion" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0000260", + "label": "Wide anterior fontanel" + } + }, + { + "type": { + "id": "HP:0001373", + "label": "Joint dislocation" + } + }, + { + "type": { + "id": "HP:0000163", + "label": "Abnormal oral cavity morphology" + } + }, + { + "type": { + "id": "HP:0008453", + "label": "Congenital kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + }, + { + "type": { + "id": "HP:0002683", + "label": "Abnormal calvaria morphology" + } + }, + { + "type": { + "id": "HP:0011343", + "label": "Moderate global developmental delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608545", + "label": "Larsen-Like syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:39:50.741210Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Larsen_like_syndrome_Lethal_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Larsen_like_syndrome_Lethal_type_patient_1.json new file mode 100644 index 000000000..8b974207b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Larsen_like_syndrome_Lethal_type_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "larsen-like_syndrome,_lethal_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0005008", + "label": "Large joint dislocations" + } + }, + { + "type": { + "id": "HP:0008755", + "label": "Laryngotracheomalacia" + } + }, + { + "type": { + "id": "HP:0001939", + "label": "Abnormality of metabolism/homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:245650", + "label": "Larsen-like syndrome, Lethal type" + } + } + ], + "metaData": { + "created": "2024-06-11T21:00:44.247404Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Larsen_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Larsen_syndrome_patient_1.json new file mode 100644 index 000000000..0e37487f4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Larsen_syndrome_patient_1.json @@ -0,0 +1,195 @@ +{ + "id": "larsen_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008434", + "label": "Hypoplastic cervical vertebrae" + } + }, + { + "type": { + "id": "HP:0002827", + "label": "Hip dislocation" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000668", + "label": "Hypodontia" + } + }, + { + "type": { + "id": "HP:0008127", + "label": "Bipartite calcaneus" + } + }, + { + "type": { + "id": "HP:0012368", + "label": "Flat face" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0000272", + "label": "Malar flattening" + } + }, + { + "type": { + "id": "HP:0000405", + "label": "Conductive hearing impairment" + } + }, + { + "type": { + "id": "HP:0003298", + "label": "Spina bifida occulta" + } + }, + { + "type": { + "id": "HP:0001799", + "label": "Short nail" + } + }, + { + "type": { + "id": "HP:0002947", + "label": "Cervical kyphosis" + } + }, + { + "type": { + "id": "HP:0003042", + "label": "Elbow dislocation" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000035", + "label": "Abnormal testis morphology" + } + }, + { + "type": { + "id": "HP:0034670", + "label": "Abnormal knee physiology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0006067", + "label": "Multiple carpal ossification centers" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0002778", + "label": "Abnormal tracheal morphology" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:150250", + "label": "Larsen syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:56:32.100078Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Laryngeal_abductor_paralysis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Laryngeal_abductor_paralysis_patient_1.json new file mode 100644 index 000000000..bcc8aae6f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Laryngeal_abductor_paralysis_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "laryngeal_abductor_paralysis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0001621", + "label": "Weak voice" + } + }, + { + "type": { + "id": "HP:0010307", + "label": "Stridor" + } + }, + { + "type": { + "id": "HP:0005484", + "label": "Secondary microcephaly" + } + }, + { + "type": { + "id": "HP:0007024", + "label": "Pseudobulbar paralysis" + } + }, + { + "type": { + "id": "HP:0001609", + "label": "Hoarse voice" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:150260", + "label": "Laryngeal abductor paralysis" + } + } + ], + "metaData": { + "created": "2024-06-11T22:41:35.385919Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Laryngeal_adductor_paralysis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Laryngeal_adductor_paralysis_patient_1.json new file mode 100644 index 000000000..85c6d4438 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Laryngeal_adductor_paralysis_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "laryngeal_adductor_paralysis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001609", + "label": "Hoarse voice" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:150270", + "label": "Laryngeal adductor paralysis" + } + } + ], + "metaData": { + "created": "2024-06-12T02:25:14.308631Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Laryngoonychocutaneous_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Laryngoonychocutaneous_syndrome_patient_1.json new file mode 100644 index 000000000..e774ece4c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Laryngoonychocutaneous_syndrome_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "laryngoonychocutaneous_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008390", + "label": "Recurrent loss of toenails and fingernails" + } + }, + { + "type": { + "id": "HP:0006297", + "label": "Enamel hypoplasia" + } + }, + { + "type": { + "id": "HP:0001612", + "label": "Weak cry" + } + }, + { + "type": { + "id": "HP:0008404", + "label": "Nail dystrophy" + } + }, + { + "type": { + "id": "HP:0034363", + "label": "Corneal pterygium" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:245660", + "label": "Laryngoonychocutaneous syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:23:29.716427Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Larynx_congenital_partial_atresia_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Larynx_congenital_partial_atresia_of_patient_1.json new file mode 100644 index 000000000..f9ab0a546 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Larynx_congenital_partial_atresia_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "larynx,_congenital_partial_atresia_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005950", + "label": "Laryngeal web" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:150300", + "label": "Larynx, congenital partial atresia of" + } + } + ], + "metaData": { + "created": "2024-06-11T22:51:41.117832Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lateral_meningocele_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lateral_meningocele_syndrome_patient_1.json new file mode 100644 index 000000000..c8033f87c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lateral_meningocele_syndrome_patient_1.json @@ -0,0 +1,153 @@ +{ + "id": "lateral_meningocele_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001643", + "label": "Patent ductus arteriosus" + } + }, + { + "type": { + "id": "HP:0010562", + "label": "Keloids" + } + }, + { + "type": { + "id": "HP:0004942", + "label": "Aortic aneurysm" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0002208", + "label": "Coarse hair" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0002684", + "label": "Thickened calvaria" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0000358", + "label": "Posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0002870", + "label": "Obstructive sleep apnea" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0002144", + "label": "Tethered cord" + } + }, + { + "type": { + "id": "HP:0000272", + "label": "Malar flattening" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0001611", + "label": "Hypernasal speech" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0200006", + "label": "Slanting of the palpebral fissure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:130720", + "label": "Lateral meningocele syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:43:38.046670Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Laterality_defects_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Laterality_defects_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..9c41fe50a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Laterality_defects_autosomal_dominant_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "laterality_defects,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030853", + "label": "Heterotaxy" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601086", + "label": "Laterality defects, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T18:37:33.709597Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lathosterolosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lathosterolosis_patient_1.json new file mode 100644 index 000000000..35b81350b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lathosterolosis_patient_1.json @@ -0,0 +1,171 @@ +{ + "id": "lathosterolosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0000033", + "label": "Ambiguous genitalia, male" + } + }, + { + "type": { + "id": "HP:0003155", + "label": "Elevated circulating alkaline phosphatase concentration" + } + }, + { + "type": { + "id": "HP:0009085", + "label": "Alveolar ridge overgrowth" + } + }, + { + "type": { + "id": "HP:0001830", + "label": "Postaxial foot polydactyly" + } + }, + { + "type": { + "id": "HP:0000939", + "label": "Osteoporosis" + } + }, + { + "type": { + "id": "HP:0031964", + "label": "Elevated circulating alanine aminotransferase concentration" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0012373", + "label": "Abnormal eye physiology" + } + }, + { + "type": { + "id": "HP:0008162", + "label": "Asymptomatic hyperammonemia" + } + }, + { + "type": { + "id": "HP:4000195", + "label": "Abnormal enzyme activity in cultured fibroblasts" + } + }, + { + "type": { + "id": "HP:0034684", + "label": "Abnormal enzyme concentration or activity" + } + }, + { + "type": { + "id": "HP:0034444", + "label": "Abnormal gamma-glutamyltransferase level" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0003316", + "label": "Butterfly vertebrae" + } + }, + { + "type": { + "id": "HP:0000163", + "label": "Abnormal oral cavity morphology" + } + }, + { + "type": { + "id": "HP:0034936", + "label": "Elevated circulating lathosterol concentration" + } + }, + { + "type": { + "id": "HP:0009118", + "label": "Aplasia/Hypoplasia of the mandible" + } + }, + { + "type": { + "id": "HP:0025611", + "label": "Epicanthus superciliaris" + } + }, + { + "type": { + "id": "HP:0000341", + "label": "Narrow forehead" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607330", + "label": "Lathosterolosis" + } + } + ], + "metaData": { + "created": "2024-06-11T20:36:35.336644Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Laurence_Moon_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Laurence_Moon_syndrome_patient_1.json new file mode 100644 index 000000000..af15d6ea0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Laurence_Moon_syndrome_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "laurence-moon_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0004324", + "label": "Increased body weight" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:245800", + "label": "Laurence-Moon syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:21:30.568087Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Laurin_Sandrow_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Laurin_Sandrow_syndrome_patient_1.json new file mode 100644 index 000000000..4345b3182 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Laurin_Sandrow_syndrome_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "laurin-sandrow_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005707", + "label": "Bilateral triphalangeal thumbs" + } + }, + { + "type": { + "id": "HP:0000429", + "label": "Abnormal morphology of the nasal alae" + } + }, + { + "type": { + "id": "HP:0012725", + "label": "Cutaneous syndactyly" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:135750", + "label": "Laurin-Sandrow syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T17:51:40.351317Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_10_patient_1.json new file mode 100644 index 000000000..1a5b67930 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_10_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "leber_congenital_amaurosis_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004409", + "label": "Hyposmia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611755", + "label": "Leber congenital amaurosis 10" + } + } + ], + "metaData": { + "created": "2024-06-11T20:11:53.626207Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_11_patient_1.json new file mode 100644 index 000000000..f401b7920 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_11_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "leber_congenital_amaurosis_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613837", + "label": "Leber congenital amaurosis 11" + } + } + ], + "metaData": { + "created": "2024-06-11T21:29:17.880365Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_12_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_12_patient_1.json new file mode 100644 index 000000000..337ffc0ed --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_12_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "leber_congenital_amaurosis_12", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008002", + "label": "Abnormality of macular pigmentation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610612", + "label": "Leber congenital amaurosis 12" + } + } + ], + "metaData": { + "created": "2024-06-11T18:36:02.922585Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_13_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_13_patient_1.json new file mode 100644 index 000000000..b77c9f94b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_13_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "leber_congenital_amaurosis_13", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008046", + "label": "Abnormal retinal vascular morphology" + } + }, + { + "type": { + "id": "HP:0004329", + "label": "Abnormal posterior eye segment morphology" + } + }, + { + "type": { + "id": "HP:0030515", + "label": "Moderately reduced visual acuity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612712", + "label": "Leber congenital amaurosis 13" + } + } + ], + "metaData": { + "created": "2024-06-11T19:25:27.568107Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_14_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_14_patient_1.json new file mode 100644 index 000000000..975bfe360 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_14_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "leber_congenital_amaurosis_14", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0000980", + "label": "Pallor" + } + }, + { + "type": { + "id": "HP:5200046", + "label": "Sensory behavioral abnormality" + } + }, + { + "type": { + "id": "HP:0007642", + "label": "Congenital stationary night blindness" + } + }, + { + "type": { + "id": "HP:0000654", + "label": "Decreased light- and dark-adapted electroretinogram amplitude" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613341", + "label": "Leber congenital amaurosis 14" + } + } + ], + "metaData": { + "created": "2024-06-11T19:50:03.546014Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_15_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_15_patient_1.json new file mode 100644 index 000000000..4f9b807d9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_15_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "leber_congenital_amaurosis_15", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030587", + "label": "Abnormal Hardy-Rand-Rittler plate test" + } + }, + { + "type": { + "id": "HP:0010542", + "label": "Vestibular nystagmus" + } + }, + { + "type": { + "id": "HP:0030527", + "label": "Very severe constriction of peripheral visual field" + } + }, + { + "type": { + "id": "HP:0034362", + "label": "Dull foveal reflex" + } + }, + { + "type": { + "id": "HP:0012047", + "label": "Hemeralopia" + } + }, + { + "type": { + "id": "HP:0500066", + "label": "Latent myopia" + } + }, + { + "type": { + "id": "HP:0007686", + "label": "Abnormal pupillary function" + } + }, + { + "type": { + "id": "HP:0007843", + "label": "Attenuation of retinal blood vessels" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613843", + "label": "Leber congenital amaurosis 15" + } + } + ], + "metaData": { + "created": "2024-06-11T22:42:48.497334Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_16_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_16_patient_1.json new file mode 100644 index 000000000..24b1db7e9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_16_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "leber_congenital_amaurosis_16", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P36Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006934", + "label": "Congenital nystagmus" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0001118", + "label": "Juvenile cataract" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011462", + "label": "Young adult onset" + } + } + }, + { + "type": { + "id": "HP:0000505", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_17_patient_1.json new file mode 100644 index 000000000..41828e8b0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_17_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "leber_congenital_amaurosis_17", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032284", + "label": "Ultra-low vision with retained motion projection" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615360", + "label": "Leber congenital amaurosis 17" + } + } + ], + "metaData": { + "created": "2024-06-11T22:55:06.338528Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_3_LCA3_Retinitis_pigmentosa_juvenile_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..e880ea7ef --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_3_LCA3_Retinitis_pigmentosa_juvenile_autosomal_recessive_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "leber_congenital_amaurosis-3_(lca3)/retinitis_pigmentosa,_juvenile,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000572", + "label": "Visual loss" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604232", + "label": "Leber congenital amaurosis-3 (LCA3)/Retinitis pigmentosa, juvenile, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T21:16:58.319046Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_4_patient_1.json new file mode 100644 index 000000000..51398dae3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_4_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "leber_congenital_amaurosis_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000618", + "label": "Blindness" + } + }, + { + "type": { + "id": "HP:0007688", + "label": "Undetectable light- and dark-adapted electroretinogram" + } + }, + { + "type": { + "id": "HP:0100689", + "label": "Decreased corneal thickness" + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604393", + "label": "Leber congenital amaurosis 4" + } + } + ], + "metaData": { + "created": "2024-06-11T21:29:17.845896Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_5_patient_1.json new file mode 100644 index 000000000..1c42d51d4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_5_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "leber_congenital_amaurosis_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011477", + "label": "Upbeat nystagmus" + } + }, + { + "type": { + "id": "HP:0000540", + "label": "Hypermetropia" + } + }, + { + "type": { + "id": "HP:0000550", + "label": "Undetectable electroretinogram" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604537", + "label": "Leber congenital amaurosis 5" + } + } + ], + "metaData": { 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-0,0 +1,75 @@ +{ + "id": "leber_congenital_amaurosis_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000563", + "label": "Keratoconus" + } + }, + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + }, + { + "type": { + "id": "HP:0007843", + "label": "Attenuation of retinal blood vessels" + } + }, + { + "type": { + "id": "HP:0500042", + "label": "Latent hypermetropia" + } + }, + { + "type": { + "id": "HP:0012044", + "label": "Seesaw nystagmus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613826", + "label": "Leber congenital amaurosis 6" + } + } + ], + "metaData": { + "created": "2024-06-11T21:52:47.183841Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + 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"type": { + "id": "HP:0100692", + "label": "Increased corneal curvature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613829", + "label": "Leber congenital amaurosis 7" + } + } + ], + "metaData": { + "created": "2024-06-11T19:24:52.815625Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_8_patient_1.json new file mode 100644 index 000000000..b32b70940 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_8_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "leber_congenital_amaurosis_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0030535", + "label": "Abnormal pinhole visual acuity test" + } + }, + { + "type": { + "id": "HP:0000512", + "label": "Abnormal electroretinogram" + } + }, + { + "type": { + "id": "HP:5200241", + "label": "Recurrent maladaptive behavior" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613835", + "label": "Leber congenital amaurosis 8" + } + } + ], + "metaData": { + "created": "2024-06-11T21:24:13.090712Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_9_patient_1.json new file mode 100644 index 000000000..d75ca5c93 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_9_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "leber_congenital_amaurosis_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001098", + "label": "Abnormal fundus morphology" + } + }, + { + "type": { + "id": "HP:0500042", + "label": "Latent hypermetropia" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0032122", + "label": "Very low visual acuity" + } + }, + { + "type": { + "id": "HP:0001098", + "label": "Abnormal fundus morphology" + } + }, + { + "type": { + "id": "HP:0007747", + "label": "Monocular horizontal nystagmus" + } + }, + { + "type": { + "id": "HP:0007814", + "label": "Retinal pigment epithelial mottling" + } + }, + { + "type": { + "id": "HP:0032286", + "label": "Ultra-low vision with retained light perception" + } + }, + { + "type": { + "id": "HP:5200058", + "label": "Sensory hypersensitivity" + } + }, + { + "type": { + "id": "HP:0000550", + "label": "Undetectable electroretinogram" + } + }, + { + "type": { + "id": "HP:0025094", + "label": "Disciform macular scar" + } + }, + { + "type": { + "id": "HP:0007737", + "label": "Bone spicule pigmentation of the retina" + } + }, + { + "type": { + "id": "HP:0100689", + "label": "Decreased corneal thickness" + } + }, + { + "type": { + "id": "HP:0500087", + "label": "Peripapillary atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608553", + "label": "Leber congenital amaurosis 9" + } + } + ], + "metaData": { + "created": "2024-06-11T21:51:15.351741Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_type_II_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_type_II_patient_1.json new file mode 100644 index 000000000..7d5f6d275 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_type_II_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "leber_congenital_amaurosis,_type_ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0001483", + "label": "Eye poking" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + }, + { + "type": { + "id": "HP:0000580", + "label": "Pigmentary retinopathy" + } + }, + { + "type": { + "id": "HP:0011477", + "label": "Upbeat nystagmus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:204100", + "label": "Leber congenital amaurosis, type II" + } + } + ], + "metaData": { + "created": "2024-06-12T02:22:06.902932Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_type_I_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_type_I_patient_1.json new file mode 100644 index 000000000..a221ded83 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_type_I_patient_1.json @@ -0,0 +1,116 @@ +{ + "id": "leber_congenital_amaurosis,_type_i", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000618", + "label": "Blindness" + } + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + }, + { + "type": { + "id": "HP:0000563", + "label": "Keratoconus" + } + }, + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0012426", + "label": "Optic disc drusen" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0001099", + "label": "Fundus atrophy" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0001483", + "label": "Eye poking" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:204000", + "label": "Leber congenital amaurosis, type I" + } + } + ], + "metaData": { + "created": "2024-06-11T22:02:16.095072Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_with_early_onset_deafness_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_with_early_onset_deafness_patient_1.json new file mode 100644 index 000000000..a65d439e9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_congenital_amaurosis_with_early_onset_deafness_patient_1.json @@ -0,0 +1,74 @@ +{ + "id": "leber_congenital_amaurosis_with_early-onset_deafness", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P11Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0500087", + "label": "Peripapillary atrophy" + } + }, + { + "type": { + "id": "HP:0000540", + "label": "Hypermetropia" + } + }, + { + "type": { + "id": "HP:0030691", + "label": "Divergence nystagmus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617879", + "label": "Leber congenital amaurosis with early-onset deafness" + } + } + ], + "metaData": { + "created": "2024-06-11T21:19:43.519596Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_hereditary_optic_neuropathy_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_hereditary_optic_neuropathy_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..d234f3a5c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_hereditary_optic_neuropathy_autosomal_recessive_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "leber_hereditary_optic_neuropathy,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007763", + "label": "Retinal telangiectasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619382", + "label": "Leber hereditary optic neuropathy, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T18:07:15.764702Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_like_hereditary_optic_neuropathy_autosomal_recessive_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_like_hereditary_optic_neuropathy_autosomal_recessive_2_patient_1.json new file mode 100644 index 000000000..65993fad5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_like_hereditary_optic_neuropathy_autosomal_recessive_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "leber-like_hereditary_optic_neuropathy,_autosomal_recessive_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000576", + "label": "Centrocecal scotoma" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620569", + "label": "Leber-like hereditary optic neuropathy, autosomal recessive 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:23:27.248379Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_optic_atrophy_and_dystonia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_optic_atrophy_and_dystonia_patient_1.json new file mode 100644 index 000000000..11f9b2c6f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_optic_atrophy_and_dystonia_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "leber_optic_atrophy_and_dystonia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002015", + "label": "Dysphagia" + } + }, + { + "type": { + "id": "HP:0009830", + "label": "Peripheral neuropathy" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:500001", + "label": "Leber optic atrophy and dystonia" + } + } + ], + "metaData": { + "created": "2024-06-11T22:02:45.091697Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_optic_atrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_optic_atrophy_patient_1.json new file mode 100644 index 000000000..f18b44bea --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_optic_atrophy_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "leber_optic_atrophy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007768", + "label": "Central retinal vessel vascular tortuosity" + } + }, + { + "type": { + "id": "HP:0002345", + "label": "Action tremor" + } + }, + { + "type": { + "id": "HP:0004329", + "label": "Abnormal posterior eye segment morphology" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0007958", + "label": "Optic atrophy from cranial nerve compression" + } + }, + { + "type": { + "id": "HP:0009830", + "label": "Peripheral neuropathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:535000", + "label": "Leber optic atrophy" + } + } + ], + "metaData": { + "created": "2024-06-11T17:52:51.961721Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_optic_atrophy_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_optic_atrophy_susceptibility_to_patient_1.json new file mode 100644 index 000000000..9e6fc276e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leber_optic_atrophy_susceptibility_to_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "leber_optic_atrophy,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:308905", + "label": "Leber optic atrophy, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T18:08:14.669299Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lecithin_cholesterol_acyltransferase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lecithin_cholesterol_acyltransferase_deficiency_patient_1.json new file mode 100644 index 000000000..a698e466c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lecithin_cholesterol_acyltransferase_deficiency_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "lecithin:cholesterol_acyltransferase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025433", + "label": "Decreased lecithin cholesterol acyl transferase level" + } + }, + { + "type": { + "id": "HP:0003651", + "label": "Foam cells" + } + }, + { + "type": { + "id": "HP:0002155", + "label": "Hypertriglyceridemia" + } + }, + { + "type": { + "id": "HP:0003233", + "label": "Decreased HDL cholesterol concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:245900", + "label": "Lecithin:cholesterol acyltransferase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T20:29:28.343334Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Left_ventricular_noncompaction_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Left_ventricular_noncompaction_10_patient_1.json new file mode 100644 index 000000000..e76f13a0a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Left_ventricular_noncompaction_10_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "left_ventricular_noncompaction_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001644", + "label": "Dilated cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615396", + "label": "Left ventricular noncompaction 10" + } + } + ], + "metaData": { + "created": "2024-06-11T17:56:34.656673Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Left_ventricular_noncompaction_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Left_ventricular_noncompaction_1_patient_1.json new file mode 100644 index 000000000..1df1a0961 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Left_ventricular_noncompaction_1_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "left_ventricular_noncompaction_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001962", + "label": "Palpitations" + } + }, + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0031352", + "label": "Chest tightness" + } + }, + { + "type": { + "id": "HP:0011664", + "label": "Left ventricular noncompaction cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0001653", + "label": "Mitral regurgitation" + } + }, + { + "type": { + "id": "HP:0011705", + "label": "First degree atrioventricular block" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0030682", + "label": "Left ventricular noncompaction" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604169", + "label": "Left ventricular noncompaction 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:37:06.681296Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Left_ventricular_noncompaction_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Left_ventricular_noncompaction_2_patient_1.json new file mode 100644 index 000000000..81f2bce25 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Left_ventricular_noncompaction_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "left_ventricular_noncompaction_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011664", + "label": "Left ventricular noncompaction cardiomyopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609470", + "label": "Left ventricular noncompaction 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:20:41.849077Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Left_ventricular_noncompaction_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Left_ventricular_noncompaction_7_patient_1.json new file mode 100644 index 000000000..049d41d5a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Left_ventricular_noncompaction_7_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "left_ventricular_noncompaction_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030682", + "label": "Left ventricular noncompaction" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615092", + "label": "Left ventricular noncompaction 7" + } + } + ], + "metaData": { + "created": "2024-06-11T20:58:09.028180Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Left_ventricular_noncompaction_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Left_ventricular_noncompaction_8_patient_1.json new file mode 100644 index 000000000..bc5c33260 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Left_ventricular_noncompaction_8_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "left_ventricular_noncompaction_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001653", + "label": "Mitral regurgitation" + } + }, + { + "type": { + "id": "HP:0001635", + "label": "Congestive heart failure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615373", + "label": "Left ventricular noncompaction 8" + } + } + ], + "metaData": { + "created": "2024-06-11T23:39:30.052691Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leg_absence_deformity_of_with_congenital_cataract_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leg_absence_deformity_of_with_congenital_cataract_patient_1.json new file mode 100644 index 000000000..235d3cad0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leg_absence_deformity_of_with_congenital_cataract_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "leg,_absence_deformity_of,_with_congenital_cataract", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0006824", + "label": "Cranial nerve paralysis" + } + }, + { + "type": { + "id": "HP:0002655", + "label": "Spondyloepiphyseal dysplasia" + } + }, + { + "type": { + "id": "HP:0005659", + "label": "Thoracic kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0000519", + "label": "Developmental cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:246000", + "label": "Leg, absence deformity of, with congenital cataract" + } + } + ], + "metaData": { + "created": "2024-06-11T19:55:08.874518Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Legg_Calve_Perthes_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Legg_Calve_Perthes_disease_patient_1.json new file mode 100644 index 000000000..73a1b2156 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Legg_Calve_Perthes_disease_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "legg-calve-perthes_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005743", + "label": "Avascular necrosis of the capital femoral epiphysis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:150600", + "label": "Legg-Calve-Perthes disease" + } + } + ], + "metaData": { + "created": "2024-06-11T22:08:03.629323Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Legius_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Legius_syndrome_patient_1.json new file mode 100644 index 000000000..9bb667f17 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Legius_syndrome_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "legius_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000997", + "label": "Axillary freckling" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0002162", + "label": "Low posterior hairline" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0002705", + "label": "High, narrow palate" + } + }, + { + "type": { + "id": "HP:0030052", + "label": "Inguinal freckling" + } + }, + { + "type": { + "id": "HP:0000358", + "label": "Posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0000767", + "label": "Pectus excavatum" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0001012", + "label": "Multiple lipomas" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" + } + }, + { + "type": { + "id": "HP:0007565", + "label": "Multiple cafe-au-lait spots" + } + }, + { + "type": { + "id": "HP:0006829", + "label": "Severe muscular hypotonia" + } + }, + { + "type": { + "id": "HP:0012373", + "label": "Abnormal eye physiology" + } + }, + { + "type": { + "id": "HP:0004488", + "label": "Macrocephaly at birth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611431", + "label": "Legius syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:56:53.649781Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leigh_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leigh_syndrome_patient_1.json new file mode 100644 index 000000000..9e6ba1521 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leigh_syndrome_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "leigh_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0000602", + "label": "Ophthalmoplegia" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + }, + { + "type": { + "id": "HP:0002093", + "label": "Respiratory insufficiency" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0001404", + "label": "Hepatocellular necrosis" + } + }, + { + "type": { + "id": "HP:0004535", + "label": "Anterior cervical hypertrichosis" + } + }, + { + "type": { + "id": "HP:0000580", + "label": "Pigmentary retinopathy" + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + }, + { + "type": { + "id": "HP:0000712", + "label": "Emotional lability" + } + }, + { + "type": { + "id": "HP:0004373", + "label": "Focal dystonia" + } + }, + { + "type": { + "id": "HP:0011146", + "label": "Dialeptic seizure" + } + }, + { + "type": { + "id": "HP:0002464", + "label": "Spastic dysarthria" + } + }, + { + "type": { + "id": "HP:0001941", + "label": "Acidosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:256000", + "label": "Leigh syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:27:15.940559Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leiomyoma_of_vulva_and_esophagus_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leiomyoma_of_vulva_and_esophagus_patient_1.json new file mode 100644 index 000000000..a62757221 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leiomyoma_of_vulva_and_esophagus_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "leiomyoma_of_vulva_and_esophagus", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008665", + "label": "Clitoral hypertrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:150700", + "label": "Leiomyoma of vulva and esophagus" + } + } + ], + "metaData": { + "created": "2024-06-12T02:19:58.893117Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leiomyoma_uterine_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leiomyoma_uterine_patient_1.json new file mode 100644 index 000000000..07a239026 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leiomyoma_uterine_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "leiomyoma,_uterine", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000131", + "label": "Uterine leiomyoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:150699", + "label": "Leiomyoma, uterine" + } + } + ], + "metaData": { + "created": "2024-06-11T23:21:59.221056Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leiomyomatosis_diffuse_with_alport_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leiomyomatosis_diffuse_with_alport_syndrome_patient_1.json new file mode 100644 index 000000000..23d3af1ea --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leiomyomatosis_diffuse_with_alport_syndrome_patient_1.json @@ -0,0 +1,86 @@ +{ + "id": "leiomyomatosis,_diffuse,_with_alport_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P60Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011501", + "label": "Anterior lenticonus" + } + }, + { + "type": { + "id": "HP:0002094", + "label": "Dyspnea" + } + }, + { + "type": { + "id": "HP:0006524", + "label": "Tracheobronchial leiomyomatosis" + } + }, + { + "type": { + "id": "HP:0004722", + "label": "Thickened glomerular basement membrane" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003584", + "label": "Late onset" + } + } + }, + { + "type": { + "id": "HP:0002907", + "label": "Microscopic hematuria" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:308940", + "label": "Leiomyomatosis, diffuse, with alport syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:51:52.849737Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leishmaniasis_tegumentary_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leishmaniasis_tegumentary_patient_1.json new file mode 100644 index 000000000..91a4db7eb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leishmaniasis_tegumentary_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "leishmaniasis,_tegumentary", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007408", + "label": "Tegumentary leishmaniasis susceptibility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602068", + "label": "Leishmaniasis, tegumentary" + } + } + ], + "metaData": { + "created": "2024-06-11T22:39:54.119008Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lentiginosis_inherited_patterned_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "lentiginosis,_inherited_patterned", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001034", + "label": "Hypermelanotic macule" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:151001", + "label": "Lentiginosis, inherited patterned" + } + } + ], + "metaData": { + "created": "2024-06-11T18:21:58.154081Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lenz_Majewski_hyperostotic_dwarfism_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lenz_Majewski_hyperostotic_dwarfism_patient_1.json new file mode 100644 index 000000000..71dcb196b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lenz_Majewski_hyperostotic_dwarfism_patient_1.json @@ -0,0 +1,266 @@ +{ + "id": "lenz-majewski_hyperostotic_dwarfism", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003015", + "label": "Flared metaphysis" + } + }, + { + "type": { + "id": "HP:0001159", + "label": "Syndactyly" + } + }, + { + "type": { + "id": "HP:0006297", + "label": "Enamel hypoplasia" + } + }, + { + "type": { + "id": "HP:0001545", + "label": "Anteriorly 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"version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leopard_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leopard_syndrome_2_patient_1.json new file mode 100644 index 000000000..962d6cf09 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leopard_syndrome_2_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "leopard_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000303", + "label": "Mandibular prognathia" + } + }, + { + "type": { + "id": "HP:0000268", + "label": "Dolichocephaly" + } + }, + { + "type": { + "id": "HP:0001003", + "label": "Multiple lentigines" + } + }, + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611554", + "label": "Leopard syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:41:22.621802Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leopard_syndrome_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leopard_syndrome_3_patient_1.json new file mode 100644 index 000000000..0317db659 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leopard_syndrome_3_patient_1.json @@ -0,0 +1,110 @@ +{ + "id": "leopard_syndrome_3", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P14Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0031093", + "label": "Abnormal breast morphology" + } + }, + { + "type": { + "id": "HP:0030939", + "label": "Palpebral thickening" + } + }, + { + "type": { + "id": "HP:0002162", + "label": "Low posterior hairline" + } + }, + { + "type": { + "id": "HP:0001054", + "label": "Numerous nevi" + } + }, + { + "type": { + "id": "HP:0001003", + "label": "Multiple 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leprosy_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leprosy_susceptibility_to_patient_1.json new file mode 100644 index 000000000..54e645639 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leprosy_susceptibility_to_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "leprosy,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002715", + "label": "Abnormality of the immune system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:246300", + "label": "Leprosy, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T18:30:42.911450Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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+ }, + { + "type": { + "id": "HP:0002788", + "label": "Recurrent upper respiratory tract infections" + } + }, + { + "type": { + "id": "HP:0002591", + "label": "Polyphagia" + } + }, + { + "type": { + "id": "HP:0000771", + "label": "Gynecomastia" + } + }, + { + "type": { + "id": "HP:0025499", + "label": "Class I obesity" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0008734", + "label": "Decreased testicular size" + } + }, + { + "type": { + "id": "HP:0033214", + "label": "Recurrent viral pneumonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614962", + "label": "Leptin deficiency or dysfunction" + } + } + ], + "metaData": { + "created": "2024-06-11T21:38:56.907505Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": 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"type": { + "id": "HP:0000712", + "label": "Emotional lability" + } + }, + { + "type": { + "id": "HP:0000718", + "label": "Aggressive behavior" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614963", + "label": "Leptin receptor deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:19.848319Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leri_Weill_dyschondrosteosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leri_Weill_dyschondrosteosis_patient_1.json new file mode 100644 index 000000000..500cd7314 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leri_Weill_dyschondrosteosis_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "leri-weill_dyschondrosteosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003367", + "label": "Abnormal femoral neck morphology" + } + }, + { + "type": { + "id": "HP:0005916", + "label": "Abnormal metacarpal morphology" + } + }, + { + "type": { + "id": "HP:0006459", + "label": "Dorsal subluxation of ulna" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0006379", + "label": "Proximal tibial hypoplasia" + } + }, + { + "type": { + "id": "HP:0006251", + "label": "Limited 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lesch_Nyhan_syndrome_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "lesch-nyhan_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001266", + "label": "Choreoathetosis" + } + }, + { + "type": { + "id": "HP:0002827", + "label": "Hip dislocation" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0003397", + "label": "Generalized hypotonia due to defect at the neuromuscular junction" + } + }, + { + "type": { + "id": "HP:0002421", + "label": "Poor head control" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:0010932", + "label": "Abnormal circulating nucleobase concentration" + } + }, + { + "type": { + "id": "HP:0011342", + "label": "Mild global 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"label": "Narrow mouth" + } + }, + { + "type": { + "id": "HP:0000026", + "label": "Male hypogonadism" + } + }, + { + "type": { + "id": "HP:0012211", + "label": "Abnormal renal physiology" + } + }, + { + "type": { + "id": "HP:0100735", + "label": "Hypertensive crisis" + } + }, + { + "type": { + "id": "HP:0000839", + "label": "Pituitary dwarfism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618681", + "label": "Lessel-Kubisch syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:43:25.339817Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_10_patient_1.json new file mode 100644 index 000000000..09a13884e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_10_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "lethal_congenital_contracture_syndrome_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0002943", + "label": "Thoracic scoliosis" + } + }, + { + "type": { + "id": "HP:0001181", + "label": "Adducted thumb" + } + }, + { + "type": { + "id": "HP:0002089", + "label": "Pulmonary hypoplasia" + } + }, + { + "type": { + "id": 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"lethal_congenital_contracture_syndrome_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0001371", + "label": "Flexion contracture" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617194", + "label": "Lethal congenital contracture syndrome 11" + } + } + ], + "metaData": { + "created": "2024-06-11T19:17:41.884177Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_1_patient_1.json new file mode 100644 index 000000000..2ec8f5533 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_1_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "lethal_congenital_contracture_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001371", + "label": "Flexion contracture" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:0000969", + "label": "Edema" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0001560", + "label": "Abnormality of the amniotic fluid" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:253310", + "label": "Lethal congenital contracture syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:38:07.605436Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_2_patient_1.json new file mode 100644 index 000000000..c2280753f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_2_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "lethal_congenital_contracture_syndrome_2", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0000969", + "label": "Edema" + } + }, + { + "type": { + "id": "HP:0000126", + "label": "Hydronephrosis" + } + }, + { + "type": { + "id": "HP:0001558", + "label": "Decreased fetal movement" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607598", + "label": "Lethal congenital contracture syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:49:51.714862Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_3_patient_1.json new file mode 100644 index 000000000..92ff3bf0d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "lethal_congenital_contracture_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002804", + "label": "Arthrogryposis multiplex congenita" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611369", + "label": "Lethal congenital contracture syndrome 3" + } + } + ], + "metaData": { + "created": "2024-06-11T20:22:51.682365Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_4_patient_1.json new file mode 100644 index 000000000..6e85cddf9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_4_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "lethal_congenital_contracture_syndrome_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" + } + }, + { + "type": { + "id": "HP:0005684", + "label": "Distal arthrogryposis" + } + }, + { + "type": { + "id": "HP:0001371", + "label": "Flexion contracture" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614915", + "label": "Lethal congenital contracture syndrome 4" + } + } + ], + "metaData": { + "created": "2024-06-11T23:17:42.667356Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_5_patient_1.json new file mode 100644 index 000000000..cad81e617 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_5_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "lethal_congenital_contracture_syndrome_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0000883", + "label": "Thin ribs" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615368", + "label": "Lethal congenital contracture syndrome 5" + } + } + ], + "metaData": { + "created": "2024-06-11T17:53:02.039442Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian 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"OMIM:616248", + "label": "Lethal congenital contracture syndrome 6" + } + } + ], + "metaData": { + "created": "2024-06-11T18:59:54.451985Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_7_patient_1.json new file mode 100644 index 000000000..8898caee2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_7_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "lethal_congenital_contracture_syndrome_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005684", + "label": "Distal arthrogryposis" + } + }, + { + "type": { + "id": "HP:0200136", + "label": "Oral-pharyngeal dysphagia" + } + }, + { + "type": { + "id": "HP:0002079", + "label": "Hypoplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0006380", + "label": "Knee flexion contracture" + } + }, + { + "type": { + "id": "HP:0001989", + "label": "Fetal akinesia sequence" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616286", + "label": "Lethal congenital contracture syndrome 7" + } + } + ], + "metaData": { + "created": "2024-06-11T23:01:11.275477Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0001605", + "label": "Vocal cord paralysis" + } + }, + { + "type": { + "id": "HP:0001284", + "label": "Areflexia" + } + }, + { + "type": { + "id": "HP:0001558", + "label": "Decreased fetal movement" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0001349", + "label": "Facial diplegia" + } + }, + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0003393", + "label": "Thenar muscle atrophy" + } + }, + { + "type": { + "id": "HP:0034392", + "label": "Joint contracture" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616287", + "label": "Lethal congenital contracture syndrome 8" + } + } + ], + "metaData": { + "created": "2024-06-11T22:46:05.433702Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_9_patient_1.json new file mode 100644 index 000000000..4559509c8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_congenital_contracture_syndrome_9_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "lethal_congenital_contracture_syndrome_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003198", + "label": "Myopathy" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0001060", + "label": "Axillary pterygium" + } + }, + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0000775", + "label": "Abnormality of the diaphragm" + } + }, + { + "type": { + "id": "HP:0011807", + "label": "Type 1 muscle fiber atrophy" + } + }, + { + "type": { + "id": "HP:0009760", + "label": "Antecubital pterygium" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616503", + "label": "Lethal congenital contracture syndrome 9" + } + } + ], + "metaData": { + "created": "2024-06-11T17:46:20.065870Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_short_limb_skeletal_dysplasia_al_Gazali_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_short_limb_skeletal_dysplasia_al_Gazali_type_patient_1.json new file mode 100644 index 000000000..9026d7149 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lethal_short_limb_skeletal_dysplasia_al_Gazali_type_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "lethal_short-limb_skeletal_dysplasia,_al_gazali_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007856", + "label": "Punctate opacification of the cornea" + } + }, + { + "type": { + "id": "HP:0005011", + "label": "Mesomelic arm shortening" + } + }, + { + "type": { + "id": "HP:0040102", + "label": "Osseous atresia of the external auditory canal" + } + }, + { + "type": { + "id": "HP:0002645", + "label": "Wormian bones" + } + }, + { + "type": { + "id": "HP:0005720", + "label": "Shortening of all metacarpals" + } + }, + { + "type": { + "id": "HP:0011910", + "label": "Shortening of all phalanges of fingers" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601356", + "label": "Lethal short-limb skeletal dysplasia, al Gazali type" + } + } + ], + "metaData": { + "created": "2024-06-11T19:33:30.751003Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online 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"term": { + "id": "OMIM:246400", + "label": "Letterer-Siwe disease" + } + } + ], + "metaData": { + "created": "2024-06-11T20:37:35.835912Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukemia_acute_lymphocytic_susceptibility_to_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukemia_acute_lymphocytic_susceptibility_to_1_patient_1.json new file mode 100644 index 000000000..72c53b791 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukemia_acute_lymphocytic_susceptibility_to_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "leukemia,_acute_lymphocytic,_susceptibility_to,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006721", + "label": "Acute lymphoblastic leukemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613065", + "label": "Leukemia, acute lymphocytic, susceptibility to, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:43:52.010565Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukemia_acute_monocytic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukemia_acute_monocytic_patient_1.json new file mode 100644 index 000000000..0645ebf84 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukemia_acute_monocytic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "leukemia,_acute_monocytic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004845", + "label": "Acute monocytic leukemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:151380", + "label": "Leukemia, acute monocytic" + } + } + ], + "metaData": { + "created": "2024-06-11T23:11:04.593627Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukemia_acute_myelocytic_with_polyposis_coli_and_colon_cancer_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukemia_acute_myelocytic_with_polyposis_coli_and_colon_cancer_patient_1.json new file mode 100644 index 000000000..6a3c0a5c0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukemia_acute_myelocytic_with_polyposis_coli_and_colon_cancer_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "leukemia,_acute_myelocytic,_with_polyposis_coli_and_colon_cancer", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003003", + "label": "Colon cancer" + } + }, + { + "type": { + "id": "HP:0005227", + "label": "Adenomatous colonic polyposis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:246470", + "label": "Leukemia, acute myelocytic, with polyposis coli and colon cancer" + } + } + ], + "metaData": { + "created": "2024-06-11T17:43:40.766704Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukemia_acute_myeloid_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukemia_acute_myeloid_patient_1.json new file mode 100644 index 000000000..7818b751a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukemia_acute_myeloid_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "leukemia,_acute_myeloid", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004808", + "label": "Acute myeloid leukemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601626", + "label": "Leukemia, acute myeloid" + } + } + ], + "metaData": { + "created": "2024-06-11T19:29:36.746589Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukemia_acute_x_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukemia_acute_x_linked_patient_1.json new file mode 100644 index 000000000..b6022eb92 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukemia_acute_x_linked_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "leukemia,_acute,_?x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002488", + "label": "Acute leukemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:308960", + "label": "Leukemia, acute, ?x-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T20:38:36.564637Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukemia_chronic_lymphocytic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukemia_chronic_lymphocytic_patient_1.json new file mode 100644 index 000000000..ec4745364 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukemia_chronic_lymphocytic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "leukemia,_chronic_lymphocytic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005550", + "label": "Chronic lymphatic leukemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:151400", + "label": "Leukemia, chronic lymphocytic" + } + } + ], + "metaData": { + "created": "2024-06-11T18:52:42.869001Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukemia_chronic_myeloid_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukemia_chronic_myeloid_patient_1.json new file mode 100644 index 000000000..306197381 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukemia_chronic_myeloid_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "leukemia,_chronic_myeloid", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004852", + "label": "Reduced leukocyte alkaline phosphatase" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608232", + "label": "Leukemia, chronic myeloid" + } + } + ], + "metaData": { + "created": "2024-06-11T21:25:30.932244Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukocyte_adhesion_deficiency_type_III_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukocyte_adhesion_deficiency_type_III_patient_1.json new file mode 100644 index 000000000..2bd06c882 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukocyte_adhesion_deficiency_type_III_patient_1.json @@ -0,0 +1,92 @@ +{ + "id": "leukocyte_adhesion_deficiency,_type_iii", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000421", + "label": "Epistaxis" + } + }, + { + "type": { + "id": "HP:0001872", + "label": "Abnormality of thrombocytes" + } + }, + { + "type": { + "id": "HP:0001433", + "label": "Hepatosplenomegaly" + } + }, + { + "type": { + "id": "HP:0100806", + "label": "Sepsis" + } + }, + { + "type": { + "id": "HP:0000967", + "label": "Petechiae" + } + }, + { + "type": { + "id": "HP:0011001", + "label": "Increased bone mineral density" + } + }, + { + "type": { + "id": "HP:0001978", + "label": "Extramedullary hematopoiesis" + } + }, + { + "type": { + "id": "HP:0025014", + "label": "Subcutaneous spheroids" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612840", + "label": "Leukocyte adhesion deficiency, type III" + } + } + ], + "metaData": { + "created": "2024-06-11T19:38:04.529701Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukocyte_adhesion_deficiency_type_I_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukocyte_adhesion_deficiency_type_I_patient_1.json new file mode 100644 index 000000000..97fb5b37d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukocyte_adhesion_deficiency_type_I_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "leukocyte_adhesion_deficiency,_type_i", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P3Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002728", + "label": "Chronic mucocutaneous candidiasis" + } + }, + { + "type": { + "id": "HP:0001881", + "label": "Abnormal leukocyte morphology" + } + }, + { + "type": { + "id": "HP:0005366", + "label": "Recurrent streptococcus pneumoniae infections" + } + }, + { + "type": { + "id": "HP:0000230", + "label": "Gingivitis" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:116920", + "label": "Leukocyte adhesion deficiency, type I" + } + } + ], + "metaData": { + "created": "2024-06-11T19:27:00.041453Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukocyte_nuclear_appendages_hereditary_prevalence_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukocyte_nuclear_appendages_hereditary_prevalence_of_patient_1.json new file mode 100644 index 000000000..5a3ff5928 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukocyte_nuclear_appendages_hereditary_prevalence_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "leukocyte_nuclear_appendages,_hereditary_prevalence_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001871", + "label": "Abnormality of blood and blood-forming tissues" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:151500", + "label": "Leukocyte nuclear appendages, hereditary prevalence of" + } + } + ], + "metaData": { + "created": "2024-06-11T20:56:10.702198Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_adult_onset_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_adult_onset_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..c11040692 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_adult_onset_autosomal_dominant_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "leukodystrophy,_adult-onset,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002171", + "label": "Gliosis" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0000802", + "label": "Impotence" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0006994", + "label": "Diffuse leukoencephalopathy" + } + }, + { + "type": { + "id": "HP:0100851", + "label": "Abnormal emotion" + } + }, + { + "type": { + "id": "HP:0007024", + "label": "Pseudobulbar paralysis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:169500", + "label": "Leukodystrophy, adult-onset, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T19:34:07.322927Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_and_acquired_microcephaly_with_or_without_dystonia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_and_acquired_microcephaly_with_or_without_dystonia_patient_1.json new file mode 100644 index 000000000..925c3ec97 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_and_acquired_microcephaly_with_or_without_dystonia_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "leukodystrophy_and_acquired_microcephaly_with_or_without_dystonia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0002011", + "label": "Morphological central nervous system abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616763", + "label": "Leukodystrophy and acquired microcephaly with or without dystonia" + } + } + ], + "metaData": { + "created": "2024-06-11T19:45:19.687660Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_childhood_onset_remitting_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_childhood_onset_remitting_patient_1.json new file mode 100644 index 000000000..f6670f43e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_childhood_onset_remitting_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "leukodystrophy,_childhood-onset,_remitting", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0100851", + "label": "Abnormal emotion" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619864", + "label": "Leukodystrophy, childhood-onset, remitting" + } + } + ], + "metaData": { + "created": "2024-06-11T20:58:09.926139Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_hypomyelinating_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_hypomyelinating_10_patient_1.json new file mode 100644 index 000000000..8a0e140d0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_hypomyelinating_10_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "leukodystrophy,_hypomyelinating,_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + }, + { + "type": { + "id": "HP:0000272", + "label": "Malar flattening" + } + }, + { + "type": { + "id": "HP:0008936", + "label": "Axial hypotonia" + } + }, + { + "type": { + "id": "HP:0002059", + "label": 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--git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_hypomyelinating_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_hypomyelinating_4_patient_1.json new file mode 100644 index 000000000..a46ac155f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_hypomyelinating_4_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "leukodystrophy,_hypomyelinating,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034353", + "label": "Appendicular spasticity" + } + }, + { + "type": { + "id": "HP:0040195", + "label": "Decreased head circumference" + } + }, + { + "type": { + "id": "HP:0000549", + "label": "Abnormal conjugate eye movement" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0011469", + "label": "Nasal regurgitation" + } + }, + { + "type": { + "id": "HP:0012072", + "label": "Aciduria" + } + 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+} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_hypomyelinating_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_hypomyelinating_5_patient_1.json new file mode 100644 index 000000000..0392b75ea --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_hypomyelinating_5_patient_1.json @@ -0,0 +1,128 @@ +{ + "id": "leukodystrophy,_hypomyelinating,_5", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P15Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004466", + "label": "Delayed brainstem auditory evoked response conduction time" + } + }, + { + "type": { + "id": "HP:0007210", + "label": "Lower limb amyotrophy" + } + }, + { + "type": { + "id": "HP:0007340", + "label": "Lower limb muscle weakness" + } + }, + { + "type": { + "id": "HP:0100291", + "label": "Delayed somatosensory central 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_hypomyelinating_6_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "leukodystrophy,_hypomyelinating,_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0003429", + "label": "CNS hypomyelination" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0002465", + "label": "Poor speech" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612438", + "label": "Leukodystrophy, hypomyelinating, 6" + } + } + ], + "metaData": { + "created": "2024-06-11T18:17:27.809305Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_hypomyelinating_8_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism_patient_1.json new file mode 100644 index 000000000..5b71894d3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_hypomyelinating_8_with_or_without_oligodontia_and_or_hypogonadotropic_hypogonadism_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "leukodystrophy,_hypomyelinating,_8,_with_or_without_oligodontia_and/or_hypogonadotropic_hypogonadism", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002075", + "label": "Dysdiadochokinesis" + } + }, + { + "type": { + "id": "HP:0007256", + "label": "Abnormal pyramidal sign" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0000684", + "label": "Delayed eruption of teeth" + } + }, + { + "type": { + "id": "HP:0033725", + "label": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_progressive_early_childhood_onset_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_progressive_early_childhood_onset_patient_1.json new file mode 100644 index 000000000..8dd1eb19b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukodystrophy_progressive_early_childhood_onset_patient_1.json @@ -0,0 +1,104 @@ +{ + "id": "leukodystrophy,_progressive,_early_childhood-onset", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033044", + "label": "Motor regression" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0000448", + "label": "Prominent nose" + } + }, + { + "type": { + "id": "HP:0004329", + "label": "Abnormal posterior eye segment morphology" + } + }, + { + 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"HP:0002352", + "label": "Leukoencephalopathy" + } + }, + { + "type": { + "id": "HP:0001123", + "label": "Visual field defect" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0002331", + "label": "Recurrent paroxysmal headache" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615651", + "label": "Leukoencephalopathy with ataxia" + } + } + ], + "metaData": { + "created": "2024-06-11T20:05:57.992642Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukoencephalopathy_with_brainstem_and_spinal_cord_involvement_and_lactate_elevation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukoencephalopathy_with_brainstem_and_spinal_cord_involvement_and_lactate_elevation_patient_1.json new file mode 100644 index 000000000..c0aa4cc3d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukoencephalopathy_with_brainstem_and_spinal_cord_involvement_and_lactate_elevation_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "leukoencephalopathy_with_brainstem_and_spinal_cord_involvement_and_lactate_elevation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004305", + "label": "Involuntary movements" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukoencephalopathy_with_dystonia_and_motor_neuropathy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukoencephalopathy_with_dystonia_and_motor_neuropathy_patient_1.json new file mode 100644 index 000000000..f2edecaa6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukoencephalopathy_with_dystonia_and_motor_neuropathy_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "leukoencephalopathy_with_dystonia_and_motor_neuropathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002495", + "label": "Impaired vibratory sensation" + } + }, + { + "type": { + "id": "HP:0002346", + "label": "Head tremor" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0004409", + "label": "Hyposmia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613724", + "label": "Leukoencephalopathy with dystonia and motor neuropathy" + } + } + ], + "metaData": { + "created": "2024-06-11T17:58:33.813340Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukoencephalopathy_with_vanishing_white_matter_2_with_or_without_ovarian_failure_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukoencephalopathy_with_vanishing_white_matter_2_with_or_without_ovarian_failure_patient_1.json new file mode 100644 index 000000000..781a1b029 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukoencephalopathy_with_vanishing_white_matter_2_with_or_without_ovarian_failure_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "leukoencephalopathy_with_vanishing_white_matter_2,_with_or_without_ovarian_failure", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P8Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + } + }, + { + "type": { + "id": "HP:0000141", + "label": "Amenorrhea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620312", + "label": "Leukoencephalopathy with vanishing white matter 2, with or without ovarian failure" + } + } + ], + "metaData": { + "created": "2024-06-11T18:20:43.146269Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukoencephalopathy_with_vanishing_white_matter_3_with_or_without_ovarian_failure_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukoencephalopathy_with_vanishing_white_matter_3_with_or_without_ovarian_failure_patient_1.json new file mode 100644 index 000000000..8dd9ba946 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukoencephalopathy_with_vanishing_white_matter_3_with_or_without_ovarian_failure_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "leukoencephalopathy_with_vanishing_white_matter_3,_with_or_without_ovarian_failure", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002505", + "label": "Loss of ambulation" + } + }, + { + "type": { + "id": "HP:0001324", + "label": "Muscle weakness" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620313", + "label": "Leukoencephalopathy with vanishing white matter 3, with or without ovarian failure" + } + } + ], + "metaData": { + "created": "2024-06-11T18:17:52.039738Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukoencephalopathy_with_vanishing_white_matter_5_with_or_without_ovarian_failure_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "leukoencephalopathy_with_vanishing_white_matter_5,_with_or_without_ovarian_failure", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007307", + "label": "Rapid neurologic deterioration" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0025456", + "label": "Abnormal CSF protein concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620315", + "label": "Leukoencephalopathy with vanishing white matter 5, with or without ovarian failure" + } + } + ], + "metaData": { + "created": "2024-06-11T19:10:02.739817Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukoencephalopathy_with_vanishing_white_matter_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukoencephalopathy_with_vanishing_white_matter_patient_1.json new file mode 100644 index 000000000..a39928413 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukoencephalopathy_with_vanishing_white_matter_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "leukoencephalopathy_with_vanishing_white_matter", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": 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+ "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukomelanoderma_infantilism_mental_retardation_hypodontia_hypotrichosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukomelanoderma_infantilism_mental_retardation_hypodontia_hypotrichosis_patient_1.json new file mode 100644 index 000000000..84157e03a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukomelanoderma_infantilism_mental_retardation_hypodontia_hypotrichosis_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "leukomelanoderma,_infantilism,_mental_retardation,_hypodontia,_hypotrichosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001595", + "label": "Abnormal hair morphology" + } + }, + { + "type": { + "id": "HP:0031087", + "label": "Absent pubertal growth spurt" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:246500", + "label": 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--- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Leukotriene_C4_synthase_deficiency_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "leukotriene_c4_synthase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001531", + "label": "Failure to thrive in infancy" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0011344", + "label": "Severe global developmental delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614037", + "label": "Leukotriene C4 synthase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T21:36:57.226348Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Levator_Medial_rectus_synkinesis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Levator_Medial_rectus_synkinesis_patient_1.json new file mode 100644 index 000000000..1bc13163f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Levator_Medial_rectus_synkinesis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "levator-medial_rectus_synkinesis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000478", + "label": "Abnormality of the eye" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:151610", + "label": "Levator-Medial rectus synkinesis" + } + } + ], + "metaData": { + "created": "2024-06-11T18:08:39.717582Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Li_Campeau_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Li_Campeau_syndrome_patient_1.json new file mode 100644 index 000000000..ce055fb2a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Li_Campeau_syndrome_patient_1.json @@ -0,0 +1,152 @@ +{ + "id": "li-campeau_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0033258", + "label": "Sudden unexpected death in epilepsy" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0002579", + "label": "Gastrointestinal dysmotility" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0001655", + "label": "Patent foramen ovale" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0000954", + "label": "Single transverse palmar crease" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0000821", + "label": "Hypothyroidism" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0000574", + "label": "Thick eyebrow" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0012741", + "label": "Unilateral cryptorchidism" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619189", + "label": "Li-Campeau syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:00:58.230292Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Li_Fraumeni_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Li_Fraumeni_syndrome_2_patient_1.json new file mode 100644 index 000000000..a3d3912ce --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Li_Fraumeni_syndrome_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "li-fraumeni_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100242", + "label": "Sarcoma" + } + } + ], + "diseases": [ + { + "term": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Li_Fraumeni_syndrome_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "li-fraumeni_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002488", + "label": "Acute leukemia" + } + }, + { + "type": { + "id": "HP:0030448", + "label": "Soft tissue sarcoma" + } + }, + { + "type": { + "id": "HP:0002667", + "label": "Nephroblastoma" + } + }, + { + "type": { + "id": "HP:0000812", + "label": "Abnormal internal genitalia" + } + }, + { + "type": { + "id": "HP:0006625", + "label": "Multifocal breast carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:151623", + "label": "Li-Fraumeni syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:55:23.655814Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Li_Ghorgani_Weisz_Hubshman_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Li_Ghorgani_Weisz_Hubshman_syndrome_patient_1.json new file mode 100644 index 000000000..705af4b23 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Li_Ghorgani_Weisz_Hubshman_syndrome_patient_1.json @@ -0,0 +1,104 @@ +{ + "id": "li-ghorgani-weisz-hubshman_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010862", + "label": "Delayed fine motor development" + } + }, + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0000601", + "label": "Hypotelorism" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:5200241", + "label": "Recurrent maladaptive behavior" + } + }, + { + "type": { + "id": "HP:0001845", + "label": "Overlapping toe" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0001655", + "label": "Patent foramen ovale" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618974", + "label": "Li-Ghorgani-Weisz-Hubshman syndrome" + } + } + ], + "metaData": { + "created": 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"liang-wang_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0002714", + "label": "Downturned corners of mouth" + } + }, + { + "type": { + "id": "HP:0000675", + "label": "Macrodontia of permanent maxillary central incisor" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618729", + "label": "Liang-Wang syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:57:22.375603Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Liberfarb_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Liberfarb_syndrome_patient_1.json new file mode 100644 index 000000000..322da4e82 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Liberfarb_syndrome_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "liberfarb_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002663", + "label": "Delayed epiphyseal ossification" + } + }, + { + "type": { + "id": "HP:0031367", + "label": "Metaphyseal striations" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0007793", + "label": "Granular macular appearance" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618889", + "label": "Liberfarb syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:51:41.091841Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lichen_planus_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lichen_planus_familial_patient_1.json new file mode 100644 index 000000000..225a5f6db --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lichen_planus_familial_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "lichen_planus,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000951", + "label": "Abnormality of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:151620", + "label": "Lichen planus, familial" + } + } + ], + "metaData": { + "created": "2024-06-12T02:23:37.365022Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lichtenstein_Knorr_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lichtenstein_Knorr_syndrome_patient_1.json new file mode 100644 index 000000000..206d61efe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lichtenstein_Knorr_syndrome_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "lichtenstein-knorr_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031936", + "label": "Delayed ability to walk" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0007240", + "label": "Progressive gait ataxia" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0033228", + "label": "Triceps areflexia" + } + }, + { + "type": { + "id": "HP:0011355", + "label": "Localized skin lesion" + } + }, + { + "type": { + "id": "HP:0008848", + "label": "Moderately short stature" + } + }, + { + "type": { + "id": "HP:0011476", + "label": "Profound sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0033257", + "label": "Delayed ability to walk with support" + } + }, + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + } + }, + { + "type": { + "id": "HP:0020035", + "label": "Lower limb dysmetria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616291", + "label": "Lichtenstein-Knorr syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:24:49.109060Z", + "createdBy": 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0010929", + "label": "Abnormal blood cation concentration" + } + }, + { + "type": { + "id": "HP:0004909", + "label": "Hypokalemic hypochloremic metabolic alkalosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:177200", + "label": "Liddle syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:05:56.240838Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Liddle_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Liddle_syndrome_2_patient_1.json new file mode 100644 index 000000000..6b38a6c6b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Liddle_syndrome_2_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "liddle_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002900", + "label": "Hypokalemia" + } + }, + { + "type": { + "id": "HP:0200114", + "label": "Metabolic alkalosis" + } + }, + { + "type": { + "id": "HP:0000822", + "label": "Hypertension" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618114", + "label": "Liddle syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:21:36.835436Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Liddle_syndrome_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Liddle_syndrome_3_patient_1.json new file mode 100644 index 000000000..fc76baaa1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Liddle_syndrome_3_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "liddle_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001948", + "label": "Alkalosis" + } + }, + { + "type": { + "id": "HP:0030972", + "label": "Abnormal systemic blood pressure" + } + }, + { + "type": { + "id": "HP:0003351", + "label": "Decreased circulating renin level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618126", + "label": "Liddle syndrome 3" + } + } + ], + "metaData": { + "created": "2024-06-12T01:06:40.071831Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Limb_Mammary_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Limb_Mammary_syndrome_patient_1.json new file mode 100644 index 000000000..41786ed1c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Limb_Mammary_syndrome_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "limb-mammary_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000668", + "label": "Hypodontia" + } + }, + { + "type": { + "id": "HP:0001839", + "label": "Split foot" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603543", + "label": "Limb-Mammary syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:02:37.558074Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Limb_defects_distal_transverse_with_mental_retardation_and_spasticity_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Limb_defects_distal_transverse_with_mental_retardation_and_spasticity_patient_1.json new file mode 100644 index 000000000..94db3003d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Limb_defects_distal_transverse_with_mental_retardation_and_spasticity_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "limb_defects,_distal_transverse,_with_mental_retardation_and_spasticity", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001171", + "label": "Split hand" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:246555", + "label": "Limb defects, distal transverse, with mental retardation and spasticity" + } + } + ], + "metaData": { + "created": "2024-06-11T22:01:47.336911Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Limb_girdle_muscular_dystrophy_type_1G_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Limb_girdle_muscular_dystrophy_type_1G_patient_1.json new file mode 100644 index 000000000..149418d6a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Limb_girdle_muscular_dystrophy_type_1G_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "limb-girdle_muscular_dystrophy,_type_1g", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0003805", + "label": "Rimmed vacuoles" + } + }, + { + "type": { + "id": "HP:0003749", + "label": "Pelvic girdle muscle weakness" + } + }, + { + "type": { + "id": "HP:0006785", + "label": "Limb-girdle muscular dystrophy" + } + }, + { + "type": { + "id": "HP:0003458", + "label": "EMG: myopathic abnormalities" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609115", + "label": "Limb-girdle muscular dystrophy, type 1G" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Linear_skin_defects_with_multiple_congenital_anomalies_1_patient_1.json @@ -0,0 +1,195 @@ +{ + "id": "linear_skin_defects_with_multiple_congenital_anomalies_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0012861", + "label": "Ovotestis" + } + }, + { + "type": { + "id": "HP:0000659", + "label": "Peters anomaly" + } + }, + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal defect" + } + }, + { + "type": { + "id": "HP:0011675", + "label": "Arrhythmia" + } + }, + { + "type": { + "id": "HP:0030048", + "label": "Colpocephaly" + } + }, + { + "type": { + "id": "HP:0001331", + "label": "Absent septum pellucidum" + } + }, + { + "type": { + "id": "HP:0011716", + "label": "Junctional ectopic tachycardia" + } + }, + { + "type": { + "id": 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"label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0011144", + "label": "Age-related posterior subcapsular cataract" + } + }, + { + "type": { + "id": "HP:0005152", + "label": "Histiocytoid cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0000580", + "label": "Pigmentary retinopathy" + } + }, + { + "type": { + "id": "HP:0000056", + "label": "Abnormal clitoris morphology" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:309801", + "label": "Linear skin defects with multiple congenital anomalies 1" + } + } + ], + "metaData": { + "created": "2024-06-12T02:20:14.786486Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { 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"2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lip_hamartomatous_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lip_hamartomatous_patient_1.json new file mode 100644 index 000000000..d440c25d4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lip_hamartomatous_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "lip,_hamartomatous", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010566", + "label": "Hamartoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:151640", + "label": "Lip, hamartomatous" + } + } + ], + "metaData": { + "created": "2024-06-11T22:13:51.256874Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lip_median_nodule_of_upper_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lip_median_nodule_of_upper_patient_1.json new file mode 100644 index 000000000..39eb4113e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lip_median_nodule_of_upper_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "lip,_median_nodule_of_upper", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000153", + "label": "Abnormality of the mouth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:151630", + "label": "Lip, median nodule 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipase_deficiency_combined_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "lipase_deficiency,_combined", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031028", + "label": "Lactescent serum" + } + }, + { + "type": { + "id": "HP:0008205", + "label": "Insulin-dependent but ketosis-resistant diabetes" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:246650", + "label": "Lipase deficiency, combined" + } + } + ], + "metaData": { + "created": "2024-06-11T23:11:06.421697Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipodystrophy_familial_partial_type_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipodystrophy_familial_partial_type_2_patient_1.json new file mode 100644 index 000000000..540a53873 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipodystrophy_familial_partial_type_2_patient_1.json @@ -0,0 +1,140 @@ +{ + "id": "lipodystrophy,_familial_partial,_type_2", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P77Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008985", + "label": "Increased intramuscular fat" + } + }, + { + "type": { + "id": "HP:0000831", + "label": "Insulin-resistant diabetes mellitus" + } + }, + { + "type": { + "id": "HP:0003758", + "label": "Reduced subcutaneous adipose tissue" + } + }, + { + "type": { + "id": "HP:0002155", 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipodystrophy_familial_partial_type_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipodystrophy_familial_partial_type_3_patient_1.json new file mode 100644 index 000000000..ffb44334a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipodystrophy_familial_partial_type_3_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "lipodystrophy,_familial_partial,_type_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000956", + "label": "Acanthosis nigricans" + } + }, + { + "type": { + "id": "HP:0009017", + "label": "Loss of gluteal subcutaneous adipose tissue" + } + }, + { + "type": { + "id": "HP:0000831", + "label": "Insulin-resistant diabetes mellitus" + } + }, + { + "type": { + "id": "HP:0001015", + "label": "Prominent superficial veins" + } + }, + { + "type": { + "id": "HP:0002155", + "label": "Hypertriglyceridemia" + } + }, + { + "type": { + "id": 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"lipodystrophy,_familial_partial,_type_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009125", + "label": "Lipodystrophy" + } + }, + { + "type": { + "id": "HP:0003712", + "label": "Skeletal muscle hypertrophy" + } + }, + { + "type": { + "id": "HP:0100578", + "label": "Lipoatrophy" + } + }, + { + "type": { + "id": "HP:0001397", + "label": "Hepatic steatosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613877", + "label": "Lipodystrophy, familial partial, type 4" + } + } + ], + "metaData": { + "created": "2024-06-11T18:07:17.815558Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipodystrophy_familial_partial_type_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipodystrophy_familial_partial_type_5_patient_1.json new file mode 100644 index 000000000..7fcdb2194 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipodystrophy_familial_partial_type_5_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "lipodystrophy,_familial_partial,_type_5", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P22Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003292", + "label": "Decreased serum leptin" + } + }, + { + "type": { + "id": "HP:0000858", + "label": "Irregular menstruation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615238", + "label": "Lipodystrophy, familial partial, type 5" + } + } + ], + "metaData": { + "created": "2024-06-11T23:56:31.790311Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipodystrophy_familial_partial_type_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipodystrophy_familial_partial_type_6_patient_1.json new file mode 100644 index 000000000..19963b183 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipodystrophy_familial_partial_type_6_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "lipodystrophy,_familial_partial,_type_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009125", + "label": "Lipodystrophy" + } + }, + { + "type": { + "id": "HP:0000822", + "label": "Hypertension" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615980", + "label": "Lipodystrophy, familial partial, type 6" + } + } + ], + "metaData": { + "created": "2024-06-11T23:03:01.845720Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipodystrophy_generalized_with_mental_retardation_deafness_short_stature_and_slender_bones_patient_1.json @@ -0,0 +1,153 @@ +{ + "id": "lipodystrophy,_generalized,_with_mental_retardation,_deafness,_short_stature,_and_slender_bones", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004993", + "label": "Slender long bones with narrow diaphyses" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0002857", + "label": "Genu valgum" + } + }, + { + "type": { + "id": "HP:0009064", + "label": "Generalized lipodystrophy" + } + }, + { + "type": { + "id": "HP:0100864", + "label": "Short femoral neck" + } + }, + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0007464", + "label": "Sparse facial hair" + } + }, + { + "type": { + "id": "HP:0008866", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipodystrophy_partial_acquired_susceptibility_to_patient_1.json new file mode 100644 index 000000000..610d8bf18 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipodystrophy_partial_acquired_susceptibility_to_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "lipodystrophy,_partial,_acquired,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009056", + "label": "Loss of subcutaneous adipose tissue from upper limbs" + } + }, + { + "type": { + "id": "HP:0009002", + "label": "Loss of truncal subcutaneous adipose tissue" + } + }, + { + "type": { + "id": "HP:0034042", + "label": "Dorsal hirsutism" + } + }, + { + "type": { + "id": "HP:0009019", + "label": "Progressive loss of facial adipose tissue" + } + }, + { + "type": { + "id": "HP:0034644", + "label": "Abnormal liver metabolite concentration" + } + }, + { + "type": { + "id": "HP:0012588", + "label": 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipodystrophy_partial_acquired_with_low_complement_component_C3_with_or_without_glomerulonephritis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipodystrophy_partial_acquired_with_low_complement_component_C3_with_or_without_glomerulonephritis_patient_1.json new file mode 100644 index 000000000..76a4faffc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipodystrophy_partial_acquired_with_low_complement_component_C3_with_or_without_glomerulonephritis_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "lipodystrophy,_partial,_acquired,_with_low_complement_component_c3,_with_or_without_glomerulonephritis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002719", + "label": "Recurrent infections" + } + }, + { + "type": { + "id": "HP:0000100", + "label": "Nephrotic 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"lipoma_of_the_conjunctiva", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012032", + "label": "Lipoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:151700", + "label": "Lipoma of the conjunctiva" + } + } + ], + "metaData": { + "created": "2024-06-11T20:26:04.316982Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipomatosis_multiple_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipomatosis_multiple_patient_1.json new file mode 100644 index 000000000..2354d1e42 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipomatosis_multiple_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "lipomatosis,_multiple", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001012", + "label": "Multiple lipomas" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:151900", + "label": "Lipomatosis, multiple" + } + } + ], + "metaData": { + "created": "2024-06-11T21:14:37.365064Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipomatosis_multiple_symmetric_with_or_without_peripheral_neuropathy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipomatosis_multiple_symmetric_with_or_without_peripheral_neuropathy_patient_1.json new file mode 100644 index 000000000..bc3effd4f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipomatosis_multiple_symmetric_with_or_without_peripheral_neuropathy_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "lipomatosis,_multiple_symmetric,_with_or_without_peripheral_neuropathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003236", + "label": "Elevated circulating creatine kinase concentration" + } + }, + { + "type": { + "id": "HP:0002936", + "label": "Distal sensory impairment" + } + }, + { + "type": { + "id": "HP:0009055", + "label": "Generalized limb muscle atrophy" + } + }, + { + "type": { + "id": "HP:0009124", + "label": "Abnormal adipose tissue morphology" + } + }, + { + "type": { + "id": "HP:0001776", + "label": "Bilateral talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0009073", + "label": "Progressive proximal muscle weakness" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:151800", + "label": "Lipomatosis, multiple symmetric, with or without peripheral neuropathy" + } + } + ], + "metaData": { + "created": "2024-06-11T23:09:08.952603Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipoprotein_glomerulopathy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipoprotein_glomerulopathy_patient_1.json new file mode 100644 index 000000000..333e4f090 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipoprotein_glomerulopathy_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "lipoprotein_glomerulopathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611771", + "label": "Lipoprotein glomerulopathy" + } + } + ], + "metaData": { + "created": "2024-06-11T22:14:57.620640Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipoyltransferase_1_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipoyltransferase_1_deficiency_patient_1.json new file mode 100644 index 000000000..84dd7774a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lipoyltransferase_1_deficiency_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "lipoyltransferase_1_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001410", + "label": "Decreased liver function" + } + }, + { + "type": { + "id": "HP:0002910", + "label": "Elevated circulating hepatic transaminase concentration" + } + }, + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + } + }, + { + "type": { + "id": "HP:0001285", + "label": "Spastic tetraparesis" + } + }, + { + "type": { + "id": "HP:0003648", + "label": "Lacticaciduria" + } + }, + { + "type": { + "id": "HP:0002151", + "label": "Increased circulating lactate concentration" + } + }, + { + "type": { + "id": "HP:0001272", + "label": "Cerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0025376", + "label": "Hyperglutaminuria" + } + }, + { + "type": { + "id": "HP:0003217", + "label": "Hyperglutaminemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616299", + "label": "Lipoyltransferase 1 deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T18:13:01.166119Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_10_patient_1.json new file mode 100644 index 000000000..865faf1b1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_10_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "lissencephaly_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0100704", + "label": "Cerebral visual impairment" + } + }, + { + "type": { + "id": "HP:0002353", + "label": "EEG abnormality" + } + }, + { + "type": { + "id": "HP:0000716", + "label": "Depression" + } + }, + { + "type": { + "id": "HP:0002544", + "label": "Retrocollis" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0020219", + "label": "Motor seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618873", + "label": "Lissencephaly 10" + } + } + ], + "metaData": { + "created": "2024-06-12T01:40:27.993287Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_1_patient_1.json new file mode 100644 index 000000000..dd34b4747 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_1_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "lissencephaly_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005484", + "label": "Secondary microcephaly" + } + }, + { + "type": { + "id": "HP:0002536", + "label": "Abnormal cortical gyration" + } + }, + { + "type": { + "id": "HP:0010993", + "label": "Abnormal cerebral subcortex morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607432", + "label": "Lissencephaly 1" + } + } + ], + "metaData": { + "created": "2024-06-11T17:47:04.972154Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_2_patient_1.json new file mode 100644 index 000000000..89834dada --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_2_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "lissencephaly_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006891", + "label": "Thick cerebral cortex" + } + }, + { + "type": { + "id": "HP:0000426", + "label": "Prominent nasal bridge" + } + }, + { + "type": { + "id": "HP:0006818", + "label": "4-layered lissencephaly" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001339", + "label": "Lissencephaly" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0000340", + "label": "Sloping forehead" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:257320", + "label": "Lissencephaly 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:52:32.434999Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_3_patient_1.json new file mode 100644 index 000000000..f19eab649 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_3_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "lissencephaly_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0006852", + "label": "Episodic generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0040195", + "label": "Decreased head circumference" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0034353", + "label": "Appendicular spasticity" + } + }, + { + "type": { + "id": "HP:0002282", + "label": "Gray matter heterotopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611603", + "label": "Lissencephaly 3" + } + } + ], + "metaData": { + "created": "2024-06-11T21:16:12.187295Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_4_patient_1.json new file mode 100644 index 000000000..87bc651eb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_4_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "lissencephaly_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0030048", + "label": "Colpocephaly" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614019", + "label": "Lissencephaly 4" + } + } + ], + "metaData": { + "created": "2024-06-11T22:25:18.877823Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_5_patient_1.json new file mode 100644 index 000000000..493046eb3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_5_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "lissencephaly_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000238", + "label": "Hydrocephalus" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + }, + "modifiers": [ + { + "id": "HP:0003676", + "label": "Progressive" + } + ] + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0032409", + "label": "Subcortical band heterotopia" + } + }, + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0002365", + "label": "Hypoplasia of the brainstem" + } + }, + { + "type": { + "id": "HP:0002079", + "label": "Hypoplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0002085", + "label": "Occipital encephalocele" + } + }, + { + "type": { + "id": "HP:0012443", + "label": "Abnormal brain morphology" + } + }, + { + "type": { + "id": "HP:0007260", + "label": "Type II lissencephaly" + } + }, + { + "type": { + "id": "HP:0001098", + "label": "Abnormal fundus morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615191", + "label": "Lissencephaly 5" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:09.602617Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_6_with_microcephaly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_6_with_microcephaly_patient_1.json new file mode 100644 index 000000000..0f557c7c8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_6_with_microcephaly_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "lissencephaly_6,_with_microcephaly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0001302", + "label": "Pachygyria" + } + }, + { + "type": { + "id": "HP:0002509", + "label": "Limb hypertonia" + } + }, + { + "type": { + "id": "HP:0002126", + "label": "Polymicrogyria" + } + }, + { + "type": { + "id": "HP:0007874", + "label": "Almond-shaped palpebral fissure" + } + }, + { + "type": { + "id": "HP:0001339", + "label": "Lissencephaly" + } + }, + { + "type": { + "id": "HP:0000954", + "label": "Single transverse palmar crease" + } + }, + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + } + }, + { + "type": { + "id": "HP:0002079", + "label": "Hypoplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0009879", + "label": "Simplified gyral pattern" + } + }, + { + "type": { + "id": "HP:0045028", + "label": "Microlissencephaly" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0001338", + "label": "Partial agenesis of the corpus callosum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616212", + "label": "Lissencephaly 6, with microcephaly" + } + } + ], + "metaData": { + "created": "2024-06-11T19:25:24.495779Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_7_with_cerebellar_hypoplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_7_with_cerebellar_hypoplasia_patient_1.json new file mode 100644 index 000000000..fb70d83a4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_7_with_cerebellar_hypoplasia_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "lissencephaly_7_with_cerebellar_hypoplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001007", + "label": "Hirsutism" + } + }, + { + "type": { + "id": "HP:0000293", + "label": "Full cheeks" + } + }, + { + "type": { + "id": "HP:0001321", + "label": "Cerebellar hypoplasia" + } + }, + { + "type": { + "id": "HP:0001339", + "label": "Lissencephaly" + } + }, + { + "type": { + "id": "HP:0001188", + "label": "Hand clenching" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0000350", + "label": "Small forehead" + } + }, + { + "type": { + "id": "HP:0031882", + "label": "Agyria" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0002804", + "label": 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000000000..2ce819c82 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_9_with_complex_brainstem_malformation_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "lissencephaly_9_with_complex_brainstem_malformation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025101", + "label": "Dysgenesis of the hippocampus" + } + }, + { + "type": { + "id": "HP:0100307", + "label": "Cerebellar hemisphere hypoplasia" + } + }, + { + "type": { + "id": "HP:0004305", + "label": "Involuntary movements" + } + }, + { + "type": { + "id": "HP:0002079", + "label": "Hypoplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0012110", + "label": "Hypoplasia of the pons" + } + }, + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0031936", + "label": "Delayed ability to walk" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0001339", + "label": "Lissencephaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618325", + "label": "Lissencephaly 9 with complex brainstem malformation" + } + } + ], + "metaData": { + "created": "2024-06-12T02:17:15.905497Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_X_linked_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_X_linked_1_patient_1.json new file mode 100644 index 000000000..99710e543 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_X_linked_1_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "lissencephaly,_x-linked,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007811", + "label": "Horizontal pendular nystagmus" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0031882", + "label": "Agyria" + } + }, + { + "type": { + "id": "HP:0000054", + "label": "Micropenis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300067", + "label": "Lissencephaly, X-linked, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:32:24.531919Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_X_linked_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_X_linked_2_patient_1.json new file mode 100644 index 000000000..a5d7afb54 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lissencephaly_X_linked_2_patient_1.json @@ -0,0 +1,153 @@ +{ + "id": "lissencephaly,_x-linked,_2", + "subject": { + "id": "patient1" + }, + 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"http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lithium_transport_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lithium_transport_patient_1.json new file mode 100644 index 000000000..e8e0e8d7b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lithium_transport_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "lithium_transport", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007302", + "label": "Bipolar affective disorder" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:152420", + "label": "Lithium transport" + } + } + ], + "metaData": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Liver_disease_severe_congenital_patient_1.json @@ -0,0 +1,183 @@ +{ + "id": "liver_disease,_severe_congenital", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0100598", + "label": "Pulmonary edema" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0009797", + "label": "Cholesteatoma" + } + }, + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0012735", + "label": "Cough" + } + }, + { + "type": { + "id": "HP:0031142", + "label": "Abnormal hepatic echogenicity" + } + }, + { + "type": { + "id": "HP:0001537", + "label": "Umbilical hernia" + } + }, + { + "type": { + "id": "HP:0001406", + "label": "Intrahepatic cholestasis" + } + }, + { + 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+ { + "type": { + "id": "HP:0004918", + "label": "Hyperchloremic metabolic acidosis" + } + }, + { + "type": { + "id": "HP:0001538", + "label": "Protuberant abdomen" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619991", + "label": "Liver disease, severe congenital" + } + } + ], + "metaData": { + "created": "2024-06-12T02:17:32.746911Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Liver_failure_infantile_transient_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Liver_failure_infantile_transient_patient_1.json new file mode 100644 index 000000000..7ce46ffc3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Liver_failure_infantile_transient_patient_1.json @@ -0,0 +1,110 @@ +{ + "id": "liver_failure,_infantile,_transient", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0002904", + "label": "Hyperbilirubinemia" + } + }, + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0003128", + "label": "Lactic acidosis" + } + }, + { + "type": { + "id": "HP:0004315", + "label": "Decreased circulating IgG level" + } + }, + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_10_patient_1.json new file mode 100644 index 000000000..238b2ddd6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_10_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "long_qt_syndrome_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001657", + "label": "Prolonged QT interval" + } + }, + { + "type": { + "id": "HP:0012266", + "label": "T-wave alternans" + } + }, + { + "type": { + "id": "HP:0006681", + "label": "Absent atrioventricular node" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611819", + "label": "Long QT syndrome 10" + } + } + ], + "metaData": { + "created": "2024-06-11T21:14:48.678025Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": 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diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_13_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_13_patient_1.json new file mode 100644 index 000000000..0a2f02881 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_13_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "long_qt_syndrome_13", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0500173", + "label": "Reflex asystolic syncope" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + }, + { + "type": { + "id": "HP:0001962", + "label": "Palpitations" + } + }, + { + "type": { + "id": "HP:0005184", + "label": "Prolonged QTc interval" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613485", + "label": "Long QT syndrome 13" + } + } + ], + "metaData": { + "created": "2024-06-11T18:02:10.928461Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_14_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_14_patient_1.json new file mode 100644 index 000000000..68c1da31d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_14_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "long_qt_syndrome_14", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001663", + "label": "Ventricular fibrillation" + } + }, + { + "type": { + "id": "HP:0034305", + "label": "2:1 atrioventricular block" + } + }, + { + "type": { + "id": "HP:0001657", + "label": "Prolonged QT interval" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616247", + "label": "Long QT syndrome 14" + } + } + ], + "metaData": { + "created": "2024-06-11T23:10:07.098906Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_15_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_15_patient_1.json new file mode 100644 index 000000000..fe0b0a813 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_15_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "long_qt_syndrome_15", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0005184", + "label": "Prolonged QTc interval" + } + }, + { + "type": { + "id": "HP:0001279", + "label": "Syncope" + } + }, + { + "type": { + "id": "HP:0034305", + "label": "2:1 atrioventricular block" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616249", + "label": "Long QT syndrome 15" + } + } + ], + "metaData": { + "created": "2024-06-11T19:19:15.126912Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_16_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_16_patient_1.json new file mode 100644 index 000000000..9feaf4f19 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_16_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "long_qt_syndrome_16", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005184", + "label": "Prolonged QTc interval" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0011682", + "label": "Perimembranous ventricular septal defect" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0011675", + "label": "Arrhythmia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618782", + "label": "Long QT syndrome 16" + } + } + ], + "metaData": { + "created": "2024-06-11T22:12:31.181782Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_1_patient_1.json new file mode 100644 index 000000000..c57a08a5a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_1_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "long_qt_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003115", + "label": "Abnormal EKG" + } + }, + { + "type": { + "id": "HP:0012669", + "label": "Carotid sinus syncope" + }, + "modifiers": [ + { + "id": "HP:0025377;HP:0025377", + "label": "Triggered by exertion" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:192500", + "label": "Long QT syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:34.325051Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_2_patient_1.json new file mode 100644 index 000000000..bb87a02d9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_2_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "long_qt_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004308", + "label": "Ventricular arrhythmia" + } + }, + { + "type": { + "id": "HP:0031628", + "label": "Aborted sudden cardiac death" + } + }, + { + "type": { + "id": "HP:0034303", + "label": "Notched T wave" + } + }, + { + "type": { + "id": "HP:0012669", + "label": "Carotid sinus syncope" + } + }, + { + "type": { + "id": "HP:0001645", + "label": "Sudden cardiac death" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613688", + "label": "Long QT syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:53:29.534129Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_3_patient_1.json new file mode 100644 index 000000000..749383e1c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_3_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "long_qt_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001664", + "label": "Torsade de pointes" + } + }, + { + "type": { + "id": "HP:0003115", + "label": "Abnormal EKG" + } + }, + { + "type": { + "id": "HP:0011675", + "label": "Arrhythmia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603830", + "label": "Long QT syndrome 3" + } + } + ], + "metaData": { + "created": "2024-06-11T21:20:45.495006Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_5_patient_1.json new file mode 100644 index 000000000..5f03f6be7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "long_qt_syndrome_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001645", + "label": "Sudden cardiac death" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613695", + "label": "Long QT syndrome 5" + } + } + ], + "metaData": { + "created": "2024-06-11T18:54:43.835437Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_6_patient_1.json new file mode 100644 index 000000000..009794c3f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_6_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "long_qt_syndrome_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001663", + "label": "Ventricular fibrillation" + } + }, + { + "type": { + "id": "HP:0001695", + "label": "Cardiac arrest" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613693", + "label": "Long QT syndrome 6" + } + } + ], + "metaData": { + "created": "2024-06-11T18:07:06.735483Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_8_patient_1.json new file mode 100644 index 000000000..f24fb0123 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_8_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "long_qt_syndrome_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005184", + "label": "Prolonged QTc interval" + } + }, + { + "type": { + "id": "HP:0001279", + "label": "Syncope" + } + }, + { + "type": { + "id": "HP:0001688", + "label": "Sinus bradycardia" + } + }, + { + "type": { + "id": "HP:0001663", + "label": "Ventricular fibrillation" + } + }, + { + "type": { + "id": "HP:0001645", + "label": "Sudden cardiac death" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618447", + "label": "Long QT syndrome 8" + } + } + ], + "metaData": { + "created": "2024-06-11T22:48:48.326896Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_9_patient_1.json new file mode 100644 index 000000000..ab85b6dbf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Long_QT_syndrome_9_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "long_qt_syndrome_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001695", + "label": "Cardiac arrest" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611818", + "label": "Long QT syndrome 9" + } + } + ], + "metaData": { + "created": "2024-06-11T21:14:50.430374Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lopes_Maciel_Rodan_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lopes_Maciel_Rodan_syndrome_patient_1.json new file mode 100644 index 000000000..3bbbad4e0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lopes_Maciel_Rodan_syndrome_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "lopes-maciel-rodan_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000713", + "label": "Agitation" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0006855", + "label": "Cerebellar vermis atrophy" + } + }, + { + "type": { + "id": "HP:0002360", + "label": "Sleep abnormality" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0002384", + "label": "Focal impaired awareness seizure" + } + }, + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0002340", + "label": "Caudate atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617435", + "label": "Lopes-Maciel-Rodan syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:31:09.372447Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lowe_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lowe_syndrome_patient_1.json new file mode 100644 index 000000000..a76068f52 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lowe_syndrome_patient_1.json @@ -0,0 +1,182 @@ +{ + "id": "lowe_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P41Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:6000615", + "label": "Reduced Inositol polyphosphate 5-phosphatase OCRL-1 activity in cultured fibroblasts" + } + }, + { + "type": { + "id": "HP:0000083", + "label": "Renal insufficiency" + } + }, + { + "type": { + "id": "HP:0002748", + "label": "Rickets" + } + }, + { + "type": { + "id": "HP:0003124", + "label": "Hypercholesterolemia" + } + }, + { + "type": { + "id": "HP:0002857", + "label": "Genu valgum" + } + }, + { + "type": { + "id": "HP:0002749", + "label": "Osteomalacia" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0003109", + "label": "Hyperphosphaturia" + } + }, + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + }, + { + "type": { + "id": "HP:0003236", + "label": "Elevated circulating creatine kinase concentration" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0001284", + "label": "Areflexia" + }, + "onset": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lowry_Wood_syndrome_patient_1.json new file mode 100644 index 000000000..33a77ffb2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lowry_Wood_syndrome_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "lowry-wood_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007994", + "label": "Peripheral visual field loss" + } + }, + { + "type": { + "id": "HP:0012471", + "label": "Thick vermilion border" + } + }, + { + "type": { + "id": "HP:0000340", + "label": "Sloping forehead" + } + }, + { + "type": { + "id": "HP:0003182", + "label": "Shallow acetabular fossae" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + }, + { + "type": { + "id": "HP:0012095", + "label": "Multiple joint dislocation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:226960", + "label": "Lowry-Wood syndrome" + } + } + ], + "metaData": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lumbar_stenosis_familial_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "lumbar_stenosis,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004610", + "label": "Lumbar spinal canal stenosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:152550", + "label": "Lumbar stenosis, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T20:48:52.286281Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lung_agenesis_congenital_heart_defects_and_thumb_anomalies_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lung_agenesis_congenital_heart_defects_and_thumb_anomalies_syndrome_patient_1.json new file mode 100644 index 000000000..67952b2c4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lung_agenesis_congenital_heart_defects_and_thumb_anomalies_syndrome_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "lung_agenesis,_congenital_heart_defects,_and_thumb_anomalies_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001671", + "label": "Abnormal cardiac septum morphology" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0011648", + "label": "Patent ductus arteriosus 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lung_cancer_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lung_cancer_susceptibility_to_patient_1.json new file mode 100644 index 000000000..acb273227 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lung_cancer_susceptibility_to_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "lung_cancer,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030358", + "label": "Non-small cell lung carcinoma" + } + }, + { + "type": { + "id": "HP:0006519", + "label": "Alveolar cell carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:211980", + "label": "Lung cancer, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T20:45:22.361890Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphangiectasia_pulmonary_congenital_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphangiectasia_pulmonary_congenital_patient_1.json new file mode 100644 index 000000000..018b17289 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphangiectasia_pulmonary_congenital_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "lymphangiectasia,_pulmonary,_congenital", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001530", + "label": "Mild postnatal growth retardation" + } + }, + { + "type": { + "id": "HP:0002202", + "label": "Pleural effusion" + } + }, + { + "type": { + "id": "HP:0000282", + "label": "Facial edema" + } + }, + { + "type": { + "id": "HP:0010741", + "label": "Pedal edema" + } + }, + { + "type": { + "id": "HP:0012281", + "label": "Chylous ascites" + } + }, + { + "type": { + "id": "HP:0000969", + "label": "Edema" + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_11_patient_1.json new file mode 100644 index 000000000..7e2cb1eb9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_11_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "lymphatic_malformation_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010741", + "label": "Pedal edema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619401", + "label": "Lymphatic malformation 11" + } + } + ], + "metaData": { + "created": "2024-06-11T23:31:22.309849Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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testis" + } + }, + { + "type": { + "id": "HP:0001791", + "label": "Fetal ascites" + } + }, + { + "type": { + "id": "HP:0007543", + "label": "Epidermal hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0025671", + "label": "Fetal pericardial effusion" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620014", + "label": "Lymphatic malformation 12" + } + } + ], + "metaData": { + "created": "2024-06-11T20:45:33.614419Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_13_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_13_patient_1.json new file mode 100644 index 000000000..784cf2bff --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_13_patient_1.json @@ -0,0 +1,147 @@ +{ + "id": "lymphatic_malformation_13", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001195", + "label": "Single umbilical artery" + } + }, + { + "type": { + "id": "HP:0001028", + "label": "Hemangioma" + } + }, + { + "type": { + "id": "HP:0001438", + "label": "Abnormal abdomen morphology" + } + }, + { + "type": { + "id": "HP:0000969", + "label": "Edema" + }, + "onset": { + "ontologyClass": { + "id": "HP:0030674", + "label": "Antenatal onset" + } + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_14_patient_1.json new file mode 100644 index 000000000..1aeaf7aea --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_14_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "lymphatic_malformation_14", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001004", + "label": "Lymphedema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620602", + "label": "Lymphatic malformation 14" + } + } + ], + "metaData": { + "created": "2024-06-11T19:38:07.596008Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_1_patient_1.json new file mode 100644 index 000000000..2bd31d1c8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_1_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "lymphatic_malformation_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007448", + "label": "Hyperkeratosis over edematous areas" + } + }, + { + "type": { + "id": "HP:0000032", + "label": "Abnormal male external genitalia morphology" + } + }, + { + "type": { + "id": "HP:0001004", + "label": "Lymphedema" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0410272", + "label": "Vulvar hemangioma" + } + }, + { + "type": { + "id": "HP:0001790", + "label": "Nonimmune hydrops fetalis" + } + }, + { + "type": { + "id": "HP:0100766", + "label": "Abnormal lymphatic vessel morphology" + } + }, + { + "type": { + "id": "HP:0025203", + "label": "Caput medusae" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:153100", + "label": "Lymphatic malformation 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:50:20.651812Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_2_patient_1.json new file mode 100644 index 000000000..8a821dcac --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "lymphatic_malformation_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001004", + "label": "Lymphedema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611944", + "label": "Lymphatic malformation 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:24:37.961568Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_3_patient_1.json new file mode 100644 index 000000000..c357ef63e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "lymphatic_malformation_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001581", + "label": "Recurrent skin infections" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613480", + "label": "Lymphatic malformation 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:17:32.928966Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_4_patient_1.json new file mode 100644 index 000000000..92820be88 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_4_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "lymphatic_malformation_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010741", + "label": "Pedal edema" + } + }, + { + "type": { + "id": "HP:0000969", + "label": "Edema" + } + }, + { + "type": { + "id": "HP:0002164", + "label": "Nail dysplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615907", + "label": "Lymphatic malformation 4" + } + } + ], + "metaData": { + "created": "2024-06-11T20:34:41.411738Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_7_patient_1.json new file mode 100644 index 000000000..d23f7cc80 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_7_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "lymphatic_malformation_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002202", + "label": "Pleural effusion" + } + }, + { + "type": { + "id": "HP:0001698", + "label": "Pericardial effusion" + } + }, + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal defect" + } + }, + { + "type": { + "id": "HP:0001004", + "label": "Lymphedema" + } + }, + { + "type": { + "id": "HP:0003270", + "label": "Abdominal distention" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0012252", + "label": "Abnormal respiratory system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617300", + "label": "Lymphatic malformation 7" + } + } + ], + "metaData": { + "created": "2024-06-11T22:14:49.343961Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_8_patient_1.json new file mode 100644 index 000000000..6b7566480 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_8_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "lymphatic_malformation_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011853", + "label": "Serous pericardial effusion" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + }, + { + "type": { + "id": "HP:0001790", + "label": "Nonimmune hydrops fetalis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618773", + "label": "Lymphatic malformation 8" + } + } + ], + "metaData": { + "created": "2024-06-11T19:23:46.903442Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_9_patient_1.json new file mode 100644 index 000000000..6645802e5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphatic_malformation_9_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "lymphatic_malformation_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003550", + "label": "Predominantly lower limb lymphedema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619319", + "label": "Lymphatic malformation 9" + } + } + ], + "metaData": { + "created": "2024-06-11T20:13:49.871951Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphedema_Distichiasis_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphedema_Distichiasis_syndrome_patient_1.json new file mode 100644 index 000000000..0473b7fa9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphedema_Distichiasis_syndrome_patient_1.json @@ -0,0 +1,158 @@ +{ + "id": "lymphedema-distichiasis_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P12Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003550", + "label": "Predominantly lower limb lymphedema" + } + }, + { + "type": { + "id": "HP:0012804", + "label": "Corneal ulceration" + } + }, + { + "type": { + "id": "HP:0000495", + "label": "Recurrent corneal erosions" + } + }, + { + "type": { + "id": "HP:0000509", + "label": "Conjunctivitis" + } + }, + { + "type": { + "id": "HP:0001004", + "label": "Lymphedema" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0003011", + "label": "Abnormality of the musculature" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0002808", + "label": "Kyphosis" + } + }, + { + "type": { + "id": "HP:0011367", + "label": "Yellow nails" + } + }, + { + "type": { + "id": "HP:0001643", + "label": "Patent ductus arteriosus" + } + }, + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + }, + { + "type": { + "id": "HP:0010310", + "label": "Chylothorax" + } + }, + { + "type": { + "id": "HP:0000204", + "label": "Cleft upper lip" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0000499", + "label": "Abnormal eyelash morphology" + } + }, + { + "type": { + "id": "HP:0011675", + "label": "Arrhythmia" + } + }, + { + "type": { + "id": "HP:0025015", + "label": "Abnormal vascular morphology" + } + }, + { + "type": { + "id": "HP:0007633", + "label": "Bilateral microphthalmos" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:153400", + "label": "Lymphedema-Distichiasis syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:25:31.702015Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphedema_Hypoparathyroidism_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphedema_Hypoparathyroidism_syndrome_patient_1.json new file mode 100644 index 000000000..d1d59c7b6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphedema_Hypoparathyroidism_syndrome_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "lymphedema-hypoparathyroidism_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012211", + "label": "Abnormal renal physiology" + } + }, + { + "type": { + "id": "HP:0008198", + "label": "Congenital hypoparathyroidism" + } + }, + { + "type": { + "id": "HP:0004540", + "label": "Congenital, generalized hypertrichosis" + } + }, + { + "type": { + "id": "HP:0012211", + "label": "Abnormal renal physiology" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0004764", + "label": "Myxomatous mitral valve degeneration" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:247410", + "label": "Lymphedema-Hypoparathyroidism syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:57:18.175459Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphedema_and_cerebral_arteriovenous_anomaly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphedema_and_cerebral_arteriovenous_anomaly_patient_1.json new file mode 100644 index 000000000..fce4627fe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphedema_and_cerebral_arteriovenous_anomaly_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "lymphedema_and_cerebral_arteriovenous_anomaly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002092", + "label": "Pulmonary arterial hypertension" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:152900", + "label": "Lymphedema and cerebral arteriovenous anomaly" + } + } + ], + "metaData": { + "created": "2024-06-11T18:47:23.557953Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphedema_cardiac_septal_defects_and_characteristic_facies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphedema_cardiac_septal_defects_and_characteristic_facies_patient_1.json new file mode 100644 index 000000000..dfe960825 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphedema_cardiac_septal_defects_and_characteristic_facies_patient_1.json @@ -0,0 +1,153 @@ +{ + "id": "lymphedema,_cardiac_septal_defects,_and_characteristic_facies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0001789", + "label": "Hydrops fetalis" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0001539", + "label": "Omphalocele" + } + }, + { + "type": { + "id": "HP:0001004", + "label": "Lymphedema" + } + }, + { + "type": { + "id": "HP:0000506", + "label": "Telecanthus" + } + }, + { + "type": { + "id": "HP:0000455", + "label": "Broad nasal tip" + } + }, + { + "type": { + "id": "HP:0001562", + "label": "Oligohydramnios" + } + }, + { + "type": { + "id": "HP:0001800", + "label": "Hypoplastic toenails" + } + }, + { + "type": { + "id": "HP:0000286", + "label": "Epicanthus" + } + }, + { + "type": { + "id": "HP:0000311", + "label": "Round face" + } + }, + { + "type": { + "id": "HP:0000348", + "label": "High forehead" + } + }, + { + "type": { + "id": "HP:0005115", + "label": "Supraventricular arrhythmia" + } + }, + { + "type": { + "id": "HP:0002623", + "label": "Overriding aorta" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0011567", + "label": "Sinus venosus atrial septal defect" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601927", + "label": "Lymphedema, cardiac septal defects, and characteristic facies" + } + } + ], + "metaData": { + "created": "2024-06-12T02:17:45.724210Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphedema_hereditary_III_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphedema_hereditary_III_patient_1.json new file mode 100644 index 000000000..3eb93b73b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphedema_hereditary_III_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "lymphedema,_hereditary,_iii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000378", + "label": "Cupped ear" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing 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end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphedema_primary_with_myelodysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphedema_primary_with_myelodysplasia_patient_1.json new file mode 100644 index 000000000..90e50ad95 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphedema_primary_with_myelodysplasia_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "lymphedema,_primary,_with_myelodysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100658", + "label": "Cellulitis" + }, + "modifiers": [ + { + "id": "HP:0031796", + "label": "Recurrent" + } + ] + }, + { + "type": { + "id": "HP:0001909", + "label": "Leukemia" + } + }, + { + "type": { + "id": "HP:0001004", + "label": "Lymphedema" + } + }, + { + "type": { + "id": "HP:0001876", + "label": "Pancytopenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614038", + "label": "Lymphedema, 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphoblastic_leukemia_acute_with_lymphomatous_features_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "lymphoblastic_leukemia,_acute,_with_lymphomatous_features", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002665", + "label": "Lymphoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:247640", + "label": "Lymphoblastic leukemia, acute, with lymphomatous features" + } + } + ], + "metaData": { + "created": "2024-06-11T20:50:21.733279Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphoblastic_transformation_intrinsic_defect_in_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "lymphoblastic_transformation,_intrinsic_defect_in", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001939", + "label": "Abnormality of metabolism/homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:247450", + "label": "Lymphoblastic transformation, intrinsic defect in" + } + } + ], + "metaData": { + "created": "2024-06-11T19:55:30.965731Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphoid_interstitial_pneumonia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphoid_interstitial_pneumonia_patient_1.json new file mode 100644 index 000000000..183fb54a5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphoid_interstitial_pneumonia_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "lymphoid_interstitial_pneumonia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100760", + "label": "Clubbing of toes" + } + }, + { + "type": { + "id": "HP:0006530", + "label": "Abnormal pulmonary interstitial morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:247610", + "label": "Lymphoid interstitial pneumonia" + } + } + ], + "metaData": { + "created": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphoma_hodgkin_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphoma_hodgkin_patient_1.json new file mode 100644 index 000000000..f2b28873a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphoma_hodgkin_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "lymphoma,_hodgkin", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003347", + "label": "Impaired lymphocyte transformation with phytohemagglutinin" + } + }, + { + "type": { + "id": "HP:0003459", + "label": "Polyclonal elevation of IgM" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:236000", + "label": "Lymphoma, hodgkin" + } + } + ], + "metaData": { + "created": "2024-06-11T22:56:55.270176Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphopenic_hypergammaglobulinemia_antibody_deficiency_autoimmunehemolytic_anemia_and_glomerulonephritis_patient_1.json new file mode 100644 index 000000000..b8bfeb24f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Lymphopenic_hypergammaglobulinemia_antibody_deficiency_autoimmunehemolytic_anemia_and_glomerulonephritis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "lymphopenic_hypergammaglobulinemia,_antibody_deficiency,_autoimmunehemolytic_anemia,_and_glomerulonephritis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030150", + "label": "Plasmacytosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:247800", + "label": "Lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmunehemolytic anemia, and glomerulonephritis" + } + } + ], + "metaData": { + "created": "2024-06-11T17:58:48.543816Z", + "createdBy": "phenotype2phenopacket", + 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"namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/MASA_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/MASA_syndrome_patient_1.json new file mode 100644 index 000000000..c6717b5bd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/MASA_syndrome_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "masa_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006889", + "label": "Intellectual disability, borderline" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0011297", + "label": "Abnormal digit morphology" + } + }, + { + "type": { + "id": "HP:0007370", + "label": "Aplasia/Hypoplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0040195", + "label": "Decreased head circumference" + } + }, + { + "type": { + "id": "HP:0040194", + "label": "Increased head circumference" + } + }, + { + "type": { + "id": "HP:0002381", + "label": "Aphasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:303350", + "label": "MASA syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:07:32.252465Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/MEDULLOBLASTOMA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/MEDULLOBLASTOMA_patient_1.json new file mode 100644 index 000000000..a27c43b93 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/MEDULLOBLASTOMA_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "medulloblastoma", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002885", + "label": "Medulloblastoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:155255", + "label": "MEDULLOBLASTOMA" + } + } + ], + "metaData": { + "created": "2024-06-12T01:24:04.120360Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/MEGALENCEPHALY_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/MEGALENCEPHALY_patient_1.json new file mode 100644 index 000000000..481000053 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/MEGALENCEPHALY_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "megalencephaly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001355", + "label": "Megalencephaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:155350", + "label": "MEGALENCEPHALY" + } + } + ], + "metaData": { + "created": "2024-06-11T21:27:37.869412Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/MICROCEPHALY_CARDIOMYOPATHY_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/MICROCEPHALY_CARDIOMYOPATHY_patient_1.json new file mode 100644 index 000000000..5381cbee4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/MICROCEPHALY_CARDIOMYOPATHY_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "microcephaly-cardiomyopathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001852", + "label": "Sandal gap" + } + }, + { + "type": { + "id": "HP:0006887", + "label": "Intellectual disability, progressive" + } + }, + { + "type": { + "id": "HP:0011297", + "label": "Abnormal digit morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:251220", + "label": "MICROCEPHALY-CARDIOMYOPATHY" + } + } + ], + "metaData": { + "created": "2024-06-11T20:47:56.194252Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/MICROHYDRANENCEPHALY_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/MICROHYDRANENCEPHALY_patient_1.json new file mode 100644 index 000000000..33b64c027 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/MICROHYDRANENCEPHALY_patient_1.json @@ -0,0 +1,147 @@ +{ + "id": "microhydranencephaly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010541", + "label": "Cutis gyrata of scalp" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0006887", + "label": "Intellectual disability, progressive" + } + }, + { + "type": { + "id": "HP:0000426", + "label": "Prominent nasal bridge" + } + }, + { + "type": { + "id": "HP:0001321", + "label": "Cerebellar hypoplasia" + } + }, + { + "type": { + "id": "HP:0000742", + "label": "Self-mutilation" + } + }, + { + "type": { + "id": "HP:0001302", + "label": "Pachygyria" + } + }, + { + "type": { + "id": "HP:0002365", + "label": "Hypoplasia of the brainstem" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0012443", + "label": "Abnormal brain morphology" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0040195", + "label": "Decreased head circumference" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0007054", + "label": "Proximal hyperreflexia" + } + }, + { + "type": { + "id": "HP:0003808", + "label": "Abnormal muscle tone" + } + }, + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" + } + }, + { + "type": { + "id": "HP:0034434", + "label": "Abnormal communication" + } + }, + { + "type": { + "id": "HP:0001338", + "label": "Partial agenesis of the corpus callosum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605013", + "label": "MICROHYDRANENCEPHALY" + } + } + ], + "metaData": { + "created": "2024-06-11T23:06:18.495959Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/MOMO_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/MOMO_syndrome_patient_1.json new file mode 100644 index 000000000..3a205b006 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/MOMO_syndrome_patient_1.json @@ -0,0 +1,177 @@ +{ + "id": "momo_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000679", + "label": "Taurodontia" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0001548", + "label": "Overgrowth" + } + }, + { + "type": { + "id": "HP:0000286", + "label": "Epicanthus" + } + }, + { + "type": { + "id": "HP:0000319", + "label": "Smooth philtrum" + } + }, + { + "type": { + "id": "HP:0001176", + "label": "Large hands" + } + }, + { + "type": { + "id": "HP:0001833", + "label": "Long foot" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000348", + "label": "High forehead" + } + }, + { + "type": { + "id": "HP:0000689", + "label": "Dental malocclusion" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0000618", + "label": "Blindness" + } + }, + { + "type": { + "id": "HP:0002750", + "label": "Delayed skeletal maturation" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0000256", + "label": "Macrocephaly" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + }, + { + "type": { + "id": "HP:0001098", + "label": "Abnormal fundus morphology" + } + }, + { + "type": { + "id": "HP:0030055", + "label": "Hyperconvex toenail" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:157980", + "label": "MOMO syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:50:30.847225Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/MUSCULAR_DYSTROPHY_DYSTROGLYCANOPATHY_CONGENITAL_WITHOUT_MENTAL_RETARDATION_TYPE_B_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/MUSCULAR_DYSTROPHY_DYSTROGLYCANOPATHY_CONGENITAL_WITHOUT_MENTAL_RETARDATION_TYPE_B_4_patient_1.json new file mode 100644 index 000000000..03774eb9d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/MUSCULAR_DYSTROPHY_DYSTROGLYCANOPATHY_CONGENITAL_WITHOUT_MENTAL_RETARDATION_TYPE_B_4_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "muscular_dystrophy-dystroglycanopathy_(congenital_without_mental_retardation),_type_b,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010876", + "label": "Abnormal circulating protein concentration" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0003324", + "label": "Generalized muscle weakness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613152", + "label": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITHOUT MENTAL RETARDATION), TYPE B, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T20:13:53.179322Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/MUSCULAR_DYSTROPHY_DYSTROGLYCANOPATHY_CONGENITAL_WITH_MENTAL_RETARDATION_TYPE_B_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/MUSCULAR_DYSTROPHY_DYSTROGLYCANOPATHY_CONGENITAL_WITH_MENTAL_RETARDATION_TYPE_B_6_patient_1.json new file mode 100644 index 000000000..af27487f5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/MUSCULAR_DYSTROPHY_DYSTROGLYCANOPATHY_CONGENITAL_WITH_MENTAL_RETARDATION_TYPE_B_6_patient_1.json @@ -0,0 +1,152 @@ +{ + "id": "muscular_dystrophy-dystroglycanopathy_(congenital_with_mental_retardation),_type_b,_6", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001302", + "label": "Pachygyria" + } + }, + { + "type": { + "id": "HP:0003712", + "label": "Skeletal muscle hypertrophy" + } + }, + { + "type": { + "id": "HP:0009473", + "label": "Joint contracture of the hand" + } + }, + { + "type": { + "id": "HP:0000654", + "label": "Decreased light- and dark-adapted electroretinogram amplitude" + } + }, + { + "type": { + "id": "HP:0025336", + "label": "Delayed ability to sit" + } + }, + { + "type": { + "id": "HP:0001321", + "label": "Cerebellar hypoplasia" + } + }, + { + "type": { + "id": "HP:0003236", + "label": "Elevated circulating creatine kinase concentration" + } + }, + { + "type": { + "id": "HP:0008981", + "label": "Calf muscle hypertrophy" + } + }, + { + "type": { + "id": "HP:0000666", + "label": "Horizontal nystagmus" + } + }, + { + "type": { + "id": "HP:0002518", + "label": "Abnormal periventricular white matter morphology" + } + }, + { + "type": { + "id": "HP:0002187", + "label": "Intellectual disability, profound" + } + }, + { + "type": { + "id": "HP:0031936", + "label": "Delayed ability to walk" + } + }, + { + "type": { + "id": "HP:0002269", + "label": "Abnormality of neuronal migration" + } + }, + { + "type": { + "id": "HP:0001335", + "label": "Bimanual synkinesia" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0003694", + "label": "Late-onset proximal muscle weakness" + } + }, + { + "type": { + "id": "HP:0007083", + "label": "Hyperactive patellar reflex" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608840", + "label": "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6" + } + } + ], + "metaData": { + "created": "2024-06-11T18:40:33.113599Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/MYOSITIS_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/MYOSITIS_patient_1.json new file mode 100644 index 000000000..da406bb8c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/MYOSITIS_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myositis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100614", + "label": "Myositis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:160750", + "label": "MYOSITIS" + } + } + ], + "metaData": { + "created": "2024-06-11T17:59:00.024446Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macdermot_Winter_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macdermot_Winter_syndrome_patient_1.json new file mode 100644 index 000000000..d86a94a78 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macdermot_Winter_syndrome_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "macdermot-winter_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macrocephaly_acquired_with_impaired_intellectual_development_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macrocephaly_acquired_with_impaired_intellectual_development_patient_1.json new file mode 100644 index 000000000..085ad3573 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macrocephaly_acquired_with_impaired_intellectual_development_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "macrocephaly,_acquired,_with_impaired_intellectual_development", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200006", + "label": "Slanting of the palpebral fissure" + } + }, + { + "type": { + "id": "HP:0007946", + "label": "Unilateral narrow palpebral fissure" + } + }, + { + "type": { + "id": "HP:0040194", + "label": "Increased head circumference" + } + }, + { + "type": { + "id": "HP:0002342", + "label": "Intellectual disability, moderate" + } + }, + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macrocephaly_benign_familial_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "macrocephaly,_benign_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004422", + "label": "Biparietal narrowing" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:153470", + "label": "Macrocephaly, benign familial" + } + } + ], + "metaData": { + "created": "2024-06-11T20:46:38.223202Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + 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000000000..4dd9b8dbf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macrocephaly_neurodevelopmental_delay_lymphoid_hyperplasia_and_persistent_fetal_hemoglobin_patient_1.json @@ -0,0 +1,170 @@ +{ + "id": "macrocephaly,_neurodevelopmental_delay,_lymphoid_hyperplasia,_and_persistent_fetal_hemoglobin", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002788", + "label": "Recurrent upper respiratory tract infections" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0011649", + "label": "Patent ductus arteriosus after premature birth" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0003808", + "label": "Abnormal muscle tone" + } + 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"label": "Tooth malposition" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0031792", + "label": "Irregular astigmatism" + } + }, + { + "type": { + "id": "HP:0001551", + "label": "Abnormal umbilicus morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619769", + "label": "Macrocephaly, neurodevelopmental delay, lymphoid hyperplasia, and persistent fetal hemoglobin" + } + } + ], + "metaData": { + "created": "2024-06-11T19:02:54.754509Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macrocytosis_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macrocytosis_familial_patient_1.json new file mode 100644 index 000000000..9e6829afc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macrocytosis_familial_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "macrocytosis,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001871", + "label": "Abnormality of blood and blood-forming tissues" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600084", + "label": "Macrocytosis, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T22:01:28.904986Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macrodactyly_somatic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macrodactyly_somatic_patient_1.json new file mode 100644 index 000000000..a286c6aa5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macrodactyly_somatic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "macrodactyly,_somatic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004099", + "label": "Macrodactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:155500", + "label": "Macrodactyly, somatic" + } + } + ], + "metaData": { + "created": "2024-06-11T18:17:13.274223Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macroglobulinemia_Waldenstrom_somatic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macroglobulinemia_Waldenstrom_somatic_patient_1.json new file mode 100644 index 000000000..2502505e1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macroglobulinemia_Waldenstrom_somatic_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "macroglobulinemia,_waldenstrom,_somatic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001909", + "label": "Leukemia" + } + }, + { + "type": { + "id": "HP:0003459", + "label": "Polyclonal elevation of IgM" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:153600", + "label": "Macroglobulinemia, Waldenstrom, somatic" + } + } + ], + "metaData": { + "created": "2024-06-11T17:53:24.206504Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macrophthalmia_colobomatous_with_microcornea_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macrophthalmia_colobomatous_with_microcornea_patient_1.json new file mode 100644 index 000000000..157ed5a80 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macrophthalmia_colobomatous_with_microcornea_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "macrophthalmia,_colobomatous,_with_microcornea", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000594", + "label": "Shallow anterior chamber" + } + }, + { + "type": { + "id": "HP:0007800", + "label": "Increased axial length of the globe" + } + }, + { + "type": { + "id": "HP:0007401", + "label": "Macular atrophy" + } + }, + { + "type": { + "id": "HP:0000567", + "label": "Chorioretinal coloboma" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602499", + "label": "Macrophthalmia, colobomatous, with microcornea" + } + } + ], + "metaData": { + "created": "2024-06-11T20:32:29.703061Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macrothrombocytopenia_and_granulocyte_inclusions_with_or_without_nephritis_or_sensorineural_hearing_loss_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macrothrombocytopenia_and_granulocyte_inclusions_with_or_without_nephritis_or_sensorineural_hearing_loss_patient_1.json new file mode 100644 index 000000000..2e9607627 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macrothrombocytopenia_and_granulocyte_inclusions_with_or_without_nephritis_or_sensorineural_hearing_loss_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "macrothrombocytopenia_and_granulocyte_inclusions_with_or_without_nephritis_or_sensorineural_hearing_loss", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008264", + "label": "Neutrophil inclusion bodies" + } + }, + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0003010", + "label": "Prolonged bleeding time" + } + }, + { + "type": { + "id": "HP:0031689", + "label": "Megakaryocyte dysplasia" + } + }, + { + "type": { + "id": "HP:0040185", + "label": "Macrothrombocytopenia" + } + }, + { + "type": { + "id": "HP:0004866", + "label": "Impaired ADP-induced platelet aggregation" + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + }, + { + "type": { + "id": "HP:0001902", + "label": "Giant platelets" + } + }, + { + "type": { + "id": "HP:0011992", + "label": "Abnormal neutrophil morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:155100", + "label": "Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss" + } + } + ], + "metaData": { + "created": "2024-06-11T18:52:52.296023Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + 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"macrothrombocytopenia,_autosomal_dominant,_tubb1-related", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040185", + "label": "Macrothrombocytopenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613112", + "label": "Macrothrombocytopenia, autosomal dominant, tubb1-related" + } + } + ], + "metaData": { + "created": "2024-06-12T02:25:27.763183Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macrothrombocytopenia_isolated_2_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macrothrombocytopenia_isolated_2_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..5939c5523 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macrothrombocytopenia_isolated_2_autosomal_dominant_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "macrothrombocytopenia,_isolated,_2,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040185", + "label": "Macrothrombocytopenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619840", + "label": "Macrothrombocytopenia, isolated, 2, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T21:20:40.744130Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macs_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macs_syndrome_patient_1.json new file mode 100644 index 000000000..625b7de6c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macs_syndrome_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "macs_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012378", + "label": "Fatigue" + } + }, + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + } + }, + { + "type": { + "id": "HP:0007204", + "label": "Diffuse white matter abnormalities" + } + }, + { + "type": { + "id": "HP:0040079", + "label": "Irregular dentition" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0003010", + "label": "Prolonged bleeding time" + } + }, + { + "type": { + "id": "HP:0001596", + "label": "Alopecia" + } + }, + { + "type": { + "id": "HP:0045075", + "label": "Sparse eyebrow" + } + }, + { + "type": { + "id": "HP:0000767", + "label": "Pectus excavatum" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0000348", + "label": "High forehead" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0012520", + "label": "Dilation of Virchow-Robin spaces" + } + }, + { + "type": { + "id": "HP:0000163", + "label": "Abnormal oral cavity morphology" + } + }, + { + "type": { + "id": "HP:0008689", + "label": "Bilateral cryptorchidism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613075", + "label": "Macs syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:15:41.943169Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_X_linked_atrophic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_X_linked_atrophic_patient_1.json new file mode 100644 index 000000000..92db7974e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_X_linked_atrophic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "macular_degeneration,_x-linked_atrophic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300834", + "label": "Macular degeneration, X-linked atrophic" + } + } + ], + "metaData": { + "created": "2024-06-11T23:01:59.716770Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_11_patient_1.json new file mode 100644 index 000000000..e98abf634 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_11_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "macular_degeneration,_age-related,_11", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P60Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_13_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_13_patient_1.json new file mode 100644 index 000000000..656916bc5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_13_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "macular_degeneration,_age-related,_13", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000529", + "label": "Progressive visual loss" + } + }, + { + "type": { + "id": "HP:0011506", + "label": "Choroidal neovascularization" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615439", + "label": "Macular degeneration, age-related, 13" + } + } + ], + "metaData": { + "created": "2024-06-11T23:21:03.962935Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_15_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_15_susceptibility_to_patient_1.json new file mode 100644 index 000000000..dd71cb390 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_15_susceptibility_to_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "macular_degeneration,_age-related,_15,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000608", + "label": "Macular degeneration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615591", + "label": "Macular degeneration, age-related, 15, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T17:45:10.507512Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_1_patient_1.json new file mode 100644 index 000000000..7ccd9e6a3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_1_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "macular_degeneration,_age-related,_1", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P81Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031609", + "label": "Geographic atrophy" + } + }, + { + "type": { + "id": "HP:0000608", + "label": "Macular degeneration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603075", + "label": "Macular degeneration, age-related, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:36:54.040702Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_2_patient_1.json new file mode 100644 index 000000000..670860b56 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_2_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "macular_degeneration,_age-related,_2", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P61Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000608", + "label": "Macular degeneration" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003584", + "label": "Late onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:153800", + "label": "Macular degeneration, age-related, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:40:26.186326Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_3_patient_1.json new file mode 100644 index 000000000..aac1716d2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_3_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "macular_degeneration,_age-related,_3", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P81Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011510", + "label": "Drusen" + } + }, + { + "type": { + "id": "HP:0003693", + "label": "Distal amyotrophy" + } + }, + { + "type": { + "id": "HP:0040129", + "label": "Abnormal nerve conduction velocity" + } + }, + { + "type": { + "id": "HP:0031241", + "label": "Subfoveal choroidal neovascularization" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608895", + "label": "Macular degeneration, age-related, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:11.411503Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_4_patient_1.json new file mode 100644 index 000000000..55566eaf6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_4_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "macular_degeneration,_age-related,_4", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P77Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000608", + "label": "Macular degeneration" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003584", + "label": "Late onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610698", + "label": "Macular degeneration, age-related, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T20:58:24.191581Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_6_patient_1.json new file mode 100644 index 000000000..d16345d0d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_6_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "macular_degeneration,_age-related,_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000608", + "label": "Macular degeneration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613757", + "label": "Macular degeneration, age-related, 6" + } + } + ], + "metaData": { + "created": "2024-06-11T20:49:03.055469Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_7_patient_1.json new file mode 100644 index 000000000..7935c7a36 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_age_related_7_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "macular_degeneration,_age-related,_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000608", + "label": "Macular degeneration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610149", + "label": "Macular degeneration, age-related, 7" + } + } + ], + "metaData": { + "created": "2024-06-11T18:53:33.880871Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_early_onset_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_early_onset_patient_1.json new file mode 100644 index 000000000..93add1bb2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_degeneration_early_onset_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "macular_degeneration,_early-onset", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P16Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031240", + "label": "Juxtafoveal choroidal neovascularization" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011462", + "label": "Young adult onset" + } + } + }, + { + "type": { + "id": "HP:0000546", + "label": "Retinal degeneration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616118", + "label": "Macular degeneration, early-onset" + } + } + ], + "metaData": { + "created": "2024-06-11T23:20:26.289464Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_X_linked_patient_1.json new file mode 100644 index 000000000..b1dc2d1be --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_X_linked_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "macular_dystrophy,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007754", + "label": "Macular dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:309100", + "label": "Macular dystrophy, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T20:21:01.774088Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_butterfly_shaped_pigmentary_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_butterfly_shaped_pigmentary_2_patient_1.json new file mode 100644 index 000000000..89937fa8a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_butterfly_shaped_pigmentary_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "macular_dystrophy,_butterfly-shaped_pigmentary,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007963", + "label": "Pattern dystrophy of the retina" + } + }, + { + "type": { + "id": "HP:0030532", + "label": "Visual acuity test abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608970", + "label": "Macular dystrophy, butterfly-shaped pigmentary, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:06:41.228152Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_concentric_annular_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_concentric_annular_patient_1.json new file mode 100644 index 000000000..7dabf1853 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_concentric_annular_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "macular_dystrophy,_concentric_annular", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007641", + "label": "Dyschromatopsia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:153870", + "label": "Macular dystrophy, concentric annular" + } + } + ], + "metaData": { + "created": "2024-06-11T21:15:10.771439Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_corneal_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_corneal_1_patient_1.json new file mode 100644 index 000000000..74bf92c32 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_corneal_1_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "macular_dystrophy,_corneal,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000481", + "label": "Abnormal cornea morphology" + } + }, + { + "type": { + "id": "HP:0004328", + "label": "Abnormal anterior eye segment morphology" + } + }, + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:217800", + "label": "Macular dystrophy, corneal, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:56:31.342069Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_fenestrated_Sheen_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_fenestrated_Sheen_type_patient_1.json new file mode 100644 index 000000000..c6da661bd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_fenestrated_Sheen_type_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "macular_dystrophy,_fenestrated_sheen_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007754", + "label": "Macular dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:153890", + "label": "Macular dystrophy, fenestrated Sheen type" + } + } + ], + "metaData": { + "created": "2024-06-11T19:57:59.313823Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_patterned_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_patterned_1_patient_1.json new file mode 100644 index 000000000..46822ef97 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_patterned_1_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "macular_dystrophy,_patterned,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004329", + "label": "Abnormal posterior eye segment morphology" + } + }, + { + "type": { + "id": "HP:0007862", + "label": "Retinal calcification" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:169150", + "label": "Macular dystrophy, patterned, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:24:13.544121Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_patterned_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_patterned_3_patient_1.json new file mode 100644 index 000000000..e4c4cb46b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_patterned_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "macular_dystrophy,_patterned,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007401", + "label": "Macular atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617111", + "label": "Macular dystrophy, patterned, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T21:05:12.068966Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_retinal_1_north_Carolina_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_retinal_1_north_Carolina_type_patient_1.json new file mode 100644 index 000000000..e9238fd9e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_retinal_1_north_Carolina_type_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "macular_dystrophy,_retinal,_1,_north_carolina_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011510", + "label": "Drusen" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:136550", + "label": "Macular dystrophy, retinal, 1, north Carolina type" + } + } + ], + "metaData": { + "created": "2024-06-11T22:24:14.319248Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_retinal_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_retinal_2_patient_1.json new file mode 100644 index 000000000..c2e1b33f6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_retinal_2_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "macular_dystrophy,_retinal,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007754", + "label": "Macular dystrophy" + } + }, + { + "type": { + "id": "HP:0007793", + "label": "Granular macular appearance" + } + }, + { + "type": { + "id": "HP:0000546", + "label": "Retinal degeneration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608051", + "label": "Macular dystrophy, retinal, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:10:58.338981Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_retinal_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_retinal_3_patient_1.json new file mode 100644 index 000000000..95b6740dc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_retinal_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "macular_dystrophy,_retinal,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030631", + "label": "Hyperautofluorescent macular lesion" + } + }, + { + "type": { + "id": "HP:0011521", + "label": "Deuteranopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608850", + "label": "Macular dystrophy, retinal, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T18:23:43.065647Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_retinal_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_retinal_4_patient_1.json new file mode 100644 index 000000000..8f0677f27 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_retinal_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "macular_dystrophy,_retinal,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011506", + "label": "Choroidal neovascularization" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619977", + "label": "Macular dystrophy, retinal, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T17:51:59.211649Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_vitelliform_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_vitelliform_1_patient_1.json new file mode 100644 index 000000000..34feca1e7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_vitelliform_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "macular_dystrophy,_vitelliform,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007677", + "label": "Vitelliform-like macular lesions" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:153840", + "label": "Macular dystrophy, vitelliform, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:52:30.948655Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_vitelliform_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_vitelliform_2_patient_1.json new file mode 100644 index 000000000..d584cdcce --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_vitelliform_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "macular_dystrophy,_vitelliform,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000512", + "label": "Abnormal electroretinogram" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:153700", + "label": "Macular dystrophy, vitelliform, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:47:02.957700Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_vitelliform_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_vitelliform_3_patient_1.json new file mode 100644 index 000000000..c3e62447c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_vitelliform_3_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "macular_dystrophy,_vitelliform,_3", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P59Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007677", + "label": "Vitelliform-like macular lesions" + } + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0011506", + "label": "Choroidal neovascularization" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608161", + "label": "Macular dystrophy, vitelliform, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T20:46:05.776720Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_vitelliform_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_vitelliform_4_patient_1.json new file mode 100644 index 000000000..96469bc13 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_vitelliform_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "macular_dystrophy,_vitelliform,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007677", + "label": "Vitelliform-like macular lesions" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616151", + "label": "Macular dystrophy, vitelliform, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T21:12:15.776123Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_vitelliform_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_vitelliform_5_patient_1.json new file mode 100644 index 000000000..4f31e82e2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_vitelliform_5_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "macular_dystrophy,_vitelliform,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0030636", + "label": "Occult macular dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616152", + "label": "Macular dystrophy, vitelliform, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T21:36:46.302060Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_with_central_cone_involvement_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_with_central_cone_involvement_patient_1.json new file mode 100644 index 000000000..bb5924e6a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_dystrophy_with_central_cone_involvement_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "macular_dystrophy_with_central_cone_involvement", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001123", + "label": "Visual field defect" + } + }, + { + "type": { + "id": "HP:0000556", + "label": "Retinal dystrophy" + } + }, + { + "type": { + "id": "HP:0011504", + "label": "Bull's eye maculopathy" + } + }, + { + "type": { + "id": "HP:0100704", + "label": "Cerebral visual impairment" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0000551", + "label": "Color vision defect" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616170", + "label": "Macular dystrophy with central cone involvement" + } + } + ], + "metaData": { + "created": "2024-06-11T19:32:12.081568Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_edema_cystoid_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_edema_cystoid_patient_1.json new file mode 100644 index 000000000..711762043 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Macular_edema_cystoid_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "macular_edema,_cystoid", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000969", + "label": "Edema" + } + }, + { + "type": { + "id": "HP:0025069", + "label": "Concomitant strabismus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:153880", + "label": "Macular edema, cystoid" + } + } + ], + "metaData": { + "created": "2024-06-11T20:31:12.923036Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Magnesium_elevated_red_cell_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Magnesium_elevated_red_cell_patient_1.json new file mode 100644 index 000000000..8ba4398a5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Magnesium_elevated_red_cell_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "magnesium,_elevated_red_cell", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001939", + "label": "Abnormality of metabolism/homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:248260", + "label": "Magnesium, elevated red cell" + } + } + ], + "metaData": { + "created": "2024-06-11T18:45:08.714237Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mahvash_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mahvash_disease_patient_1.json new file mode 100644 index 000000000..d6eac69e4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mahvash_disease_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "mahvash_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002321", + "label": "Vertigo" + } + }, + { + "type": { + "id": "HP:0004510", + "label": "Pancreatic islet-cell hyperplasia" + } + }, + { + "type": { + "id": "HP:0011675", + "label": "Arrhythmia" + } + }, + { + "type": { + "id": "HP:0003117", + "label": "Abnormal circulating hormone concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619290", + "label": "Mahvash disease" + } + } + ], + "metaData": { + "created": "2024-06-11T20:51:53.104984Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Majeed_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Majeed_syndrome_patient_1.json new file mode 100644 index 000000000..8149c9f4a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Majeed_syndrome_patient_1.json @@ -0,0 +1,74 @@ +{ + "id": "majeed_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P4Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002754", + "label": "Osteomyelitis" + } + }, + { + "type": { + "id": "HP:0002750", + "label": "Delayed skeletal maturation" + } + }, + { + "type": { + "id": "HP:0001954", + "label": "Recurrent fever" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609628", + "label": "Majeed syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:41:27.967104Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Major_affective_disorder_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Major_affective_disorder_1_patient_1.json new file mode 100644 index 000000000..05b1ae84d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Major_affective_disorder_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "major_affective_disorder_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100754", + "label": "Mania" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125480", + "label": "Major affective disorder 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:48:23.708126Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Major_affective_disorder_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Major_affective_disorder_2_patient_1.json new file mode 100644 index 000000000..d213e8e91 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Major_affective_disorder_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "major_affective_disorder_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007302", + "label": "Bipolar affective disorder" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:309200", + "label": "Major affective disorder 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:44:16.191449Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Major_depressive_disorder_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Major_depressive_disorder_patient_1.json new file mode 100644 index 000000000..780e5af67 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Major_depressive_disorder_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "major_depressive_disorder", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000716", + "label": "Depression" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608516", + "label": "Major depressive disorder" + } + } + ], + "metaData": { + "created": "2024-06-11T18:08:09.184422Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Malan_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Malan_syndrome_patient_1.json new file mode 100644 index 000000000..c33411055 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Malan_syndrome_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "malan_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000483", + "label": "Astigmatism" + } + }, + { + "type": { + "id": "HP:0040194", + "label": "Increased head circumference" + } + }, + { + "type": { + "id": "HP:0200006", + "label": "Slanting of the palpebral fissure" + } + }, + { + "type": { + "id": "HP:0011346", + "label": "Mild expressive language delay" + } + }, + { + "type": { + "id": "HP:0000212", + "label": "Gingival overgrowth" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0000098", + "label": "Tall stature" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614753", + "label": "Malan syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:17:12.323583Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Male_infertility_with_large_headed_multiflagellar_polyploid_spermatozoa_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Male_infertility_with_large_headed_multiflagellar_polyploid_spermatozoa_patient_1.json new file mode 100644 index 000000000..eb8f647bc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Male_infertility_with_large_headed_multiflagellar_polyploid_spermatozoa_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "male_infertility_with_large-headed,_multiflagellar,_polyploid_spermatozoa", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:243060", + "label": "Male infertility with large-headed, multiflagellar, polyploid spermatozoa" + } + } + ], + "metaData": { + "created": "2024-06-12T00:30:43.526253Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Maleylacetoacetate_isomerase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maleylacetoacetate_isomerase_deficiency_patient_1.json new file mode 100644 index 000000000..e307f7653 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maleylacetoacetate_isomerase_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "maleylacetoacetate_isomerase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001410", + "label": "Decreased liver function" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617596", + "label": "Maleylacetoacetate isomerase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T18:19:54.392132Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Malignant_atrophic_papulosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Malignant_atrophic_papulosis_patient_1.json new file mode 100644 index 000000000..b46a6b3cd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Malignant_atrophic_papulosis_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "malignant_atrophic_papulosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200034", + "label": "Papule" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0005244", + "label": "Gastrointestinal infarctions" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602248", + "label": "Malignant atrophic papulosis" + } + } + ], + "metaData": { + "created": "2024-06-11T20:36:19.770480Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Malignant_hyperthermia_susceptibility_to_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Malignant_hyperthermia_susceptibility_to_1_patient_1.json new file mode 100644 index 000000000..fea86283b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Malignant_hyperthermia_susceptibility_to_1_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "malignant_hyperthermia,_susceptibility_to,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003236", + "label": "Elevated circulating creatine kinase concentration" + }, + "modifiers": [ + { + "id": "HP:0500261", + "label": "Triggered by anesthetics" + } + ] + }, + { + "type": { + "id": "HP:0004308", + "label": "Ventricular arrhythmia" + }, + "modifiers": [ + { + "id": "HP:0500261", + "label": "Triggered by anesthetics" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:145600", + "label": "Malignant hyperthermia, susceptibility to, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:38:36.529470Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Malignant_hyperthermia_susceptibility_to_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Malignant_hyperthermia_susceptibility_to_2_patient_1.json new file mode 100644 index 000000000..40e52e24d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Malignant_hyperthermia_susceptibility_to_2_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "malignant_hyperthermia,_susceptibility_to,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003236", + "label": "Elevated circulating creatine kinase concentration" + } + }, + { + "type": { + "id": "HP:0003198", + "label": "Myopathy" + } + }, + { + "type": { + "id": "HP:0034733", + "label": "Anesthesic-triggered malignant hyperthermia" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:154275", + "label": "Malignant hyperthermia, susceptibility to, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:54:09.819682Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Malignant_hyperthermia_susceptibility_to_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Malignant_hyperthermia_susceptibility_to_3_patient_1.json new file mode 100644 index 000000000..24da6a08b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Malignant_hyperthermia_susceptibility_to_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "malignant_hyperthermia,_susceptibility_to,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001945", + "label": "Fever" + } + }, + { + "type": { + "id": "HP:0003111", + "label": "Abnormal blood ion concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:154276", + "label": "Malignant hyperthermia, susceptibility to, 3" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Malouf_syndrome_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "malouf_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000815", + "label": "Hypergonadotropic hypogonadism" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0001072", + "label": "Thickened skin" + } + }, + { + "type": { + "id": "HP:0009470", + "label": "Contracture of the metacarpophalangeal joint of the 3rd finger" + } + }, + { + "type": { + "id": "HP:0009121", + "label": "Abnormal axial skeleton morphology" + } + }, + { + "type": { + "id": "HP:0031610", + "label": "Recurrent shoulder dislocation" + } + }, + { + "type": { + "id": "HP:0000460", + "label": "Narrow nose" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:212112", + "label": "Malouf syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:27:35.880962Z", + 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newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mandibular_hypoplasia_deafness_progeroid_features_and_lipodystrophy_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mandibular_hypoplasia_deafness_progeroid_features_and_lipodystrophy_syndrome_patient_1.json new file mode 100644 index 000000000..f0cdcd885 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mandibular_hypoplasia_deafness_progeroid_features_and_lipodystrophy_syndrome_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "mandibular_hypoplasia,_deafness,_progeroid_features,_and_lipodystrophy_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000520", + "label": "Proptosis" + } + }, + { + "type": { + "id": "HP:0034392", + "label": "Joint contracture" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0100679", + "label": "Lack of skin 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} + }, + { + "type": { + "id": "HP:0000418", + "label": "Narrow nasal ridge" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + }, + { + "type": { + "id": "HP:0025265", + "label": "Stiff toe" + } + }, + { + "type": { + "id": "HP:0000877", + "label": "Insulin-resistant diabetes mellitus at puberty" + } + }, + { + "type": { + "id": "HP:0001870", + "label": "Acroosteolysis of distal phalanges (feet)" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:248370", + "label": "Mandibuloacral dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T19:25:08.389591Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", 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} + }, + { + "type": { + "id": "HP:0010575", + "label": "Dysplasia of the femoral head" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0009125", + "label": "Lipodystrophy" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0034392", + "label": "Joint contracture" + } + }, + { + "type": { + "id": "HP:0004474", + "label": "Persistent open anterior fontanelle" + } + }, + { + "type": { + "id": "HP:0410042", + "label": "Abnormal liver morphology" + } + }, + { + "type": { + "id": "HP:0000520", + "label": "Proptosis" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0008850", + "label": "Severe postnatal growth retardation" + } + }, + { + "type": { + "id": "HP:0031028", + "label": "Lactescent serum" + } + }, + { + "type": { + "id": "HP:0005180", + "label": "Tricuspid 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mannose_Binding_lectin_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "mannose-binding_lectin_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031699", + "label": "Disseminated cryptosporidium infection" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614372", + "label": "Mannose-Binding lectin deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T20:43:45.064205Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": 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], + "diseases": [ + { + "term": { + "id": "OMIM:615135", + "label": "Maple syrup urine disease, mild variant" + } + } + ], + "metaData": { + "created": "2024-06-11T19:29:44.784279Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Maple_syrup_urine_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maple_syrup_urine_disease_patient_1.json new file mode 100644 index 000000000..67e32a34e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maple_syrup_urine_disease_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "maple_syrup_urine_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:4000207", + "label": "Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts" + } + }, + { + "type": { + "id": "HP:0001943", + "label": "Hypoglycemia" + } + }, + { + "type": { + "id": "HP:0008344", + "label": "Elevated circulating branched chain amino acid concentration" + } + }, + { + "type": { + "id": "HP:0001733", + "label": "Pancreatitis" + } + }, + { + "type": { + "id": "HP:0003128", + "label": "Lactic acidosis" + } + }, + { + "type": { + "id": "HP:0004354", + "label": "Abnormal circulating carboxylic acid concentration" + } + }, + { + "type": { + "id": "HP:0033354", + "label": "Abnormal urine metabolite level" + } + } + ], + "diseases": [ + { + "term": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Marbach_Rustad_progeroid_syndrome_patient_1.json @@ -0,0 +1,171 @@ +{ + "id": "marbach-rustad_progeroid_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0000706", + "label": "Eruption failure" + } + }, + { + "type": { + "id": "HP:0003429", + "label": "CNS hypomyelination" + } + }, + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + }, + "onset": { + "ontologyClass": { + "id": "HP:0030674", + "label": "Antenatal onset" + } + } + }, + { + "type": { + "id": "HP:0001015", + "label": "Prominent superficial veins" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0002080", + "label": "Intention tremor" + } + }, + { + "type": { + "id": "HP:0000894", + "label": "Short clavicles" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Marbach_Schaaf_neurodevelopmental_syndrome_patient_1.json new file mode 100644 index 000000000..b196a5401 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Marbach_Schaaf_neurodevelopmental_syndrome_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "marbach-schaaf_neurodevelopmental_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000601", + "label": "Hypotelorism" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0011098", + "label": "Speech apraxia" + } + }, + { + "type": { + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" + } + }, + { + "type": { + "id": "HP:0031770", + "label": "Epicanthus palpebralis" + } + }, + { + "type": { + "id": "HP:0005105", + "label": 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"id": "HP:0003778", + "label": "Short mandibular rami" + } + }, + { + "type": { + "id": "HP:0012373", + "label": "Abnormal eye physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:248700", + "label": "Marden-Walker syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:15:48.317433Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Marfan_lipodystrophy_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Marfan_lipodystrophy_syndrome_patient_1.json new file mode 100644 index 000000000..606101bad --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Marfan_lipodystrophy_syndrome_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "marfan_lipodystrophy_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000426", + "label": "Prominent nasal bridge" + } + }, + { + "type": { + "id": "HP:0005328", + "label": "Progeroid facial appearance" + } + }, + { + "type": { + "id": "HP:0030799", + "label": "Scaphocephaly" + } + }, + { + "type": { + "id": "HP:0008872", + "label": "Feeding difficulties in infancy" + } + }, + { + "type": { + "id": "HP:0001562", + "label": "Oligohydramnios" + } + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": 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], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Marfan_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Marfan_syndrome_patient_1.json new file mode 100644 index 000000000..885b13b83 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Marfan_syndrome_patient_1.json @@ -0,0 +1,326 @@ +{ + "id": "marfan_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P21Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005180", + "label": "Tricuspid regurgitation" + } + }, + { + "type": { + "id": "HP:0004927", + "label": "Pulmonary artery dilatation" + } + }, + { + "type": { + "id": "HP:0032934", + "label": "Spontaneous cerebrospinal fluid leak" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011462", + "label": "Young adult onset" + } + } + }, + { + "type": { + "id": "HP:0001519", 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000000000..d911b8e82 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Marshall_syndrome_patient_1.json @@ -0,0 +1,224 @@ +{ + "id": "marshall_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P57Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0012283", + "label": "Small distal femoral epiphysis" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0002986", + "label": "Radial bowing" + } + }, + { + "type": { + "id": "HP:0004329", + "label": "Abnormal posterior eye segment morphology" + } + }, + { + "type": { + "id": "HP:0000201", + "label": "Pierre-Robin sequence" + } + }, + { + "type": { + "id": "HP:0000215", + "label": "Thick upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0500066", + "label": "Latent myopia" + } + }, + { + "type": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mass_syndrome_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "mass_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001166", + "label": "Arachnodactyly" + } + }, + { + "type": { + "id": "HP:0001634", + "label": "Mitral valve prolapse" + } + }, + { + "type": { + "id": "HP:0004942", + "label": "Aortic aneurysm" + }, + "modifiers": [ + { + "id": "HP:0012825;HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0000768", + "label": "Pectus carinatum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604308", + "label": "Mass syndrome" + } + } + ], + "metaData": { + "created": "2024-06-12T02:25:20.711940Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_Onset_diabetes_of_the_young_type_8_with_exocrine_dysfunction_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_Onset_diabetes_of_the_young_type_8_with_exocrine_dysfunction_patient_1.json new file mode 100644 index 000000000..52e5d70f0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_Onset_diabetes_of_the_young_type_8_with_exocrine_dysfunction_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "maturity-onset_diabetes_of_the_young,_type_8,_with_exocrine_dysfunction", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001738", + "label": "Exocrine pancreatic insufficiency" + } + }, + { + "type": { + "id": "HP:0003074", + "label": "Hyperglycemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609812", + "label": "Maturity-Onset diabetes of the young, type 8, with exocrine dysfunction" + } + } + ], + "metaData": { + "created": "2024-06-11T17:44:40.974389Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_6_patient_1.json new file mode 100644 index 000000000..ea8a9289a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_6_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "maturity-onset_diabetes_of_the_young_6", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P27Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004904", + "label": "Maturity-onset diabetes of the young" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011462", + "label": "Young adult onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606394", + "label": "Maturity-onset diabetes of the young 6" + } + } + ], + "metaData": { + "created": "2024-06-11T21:15:52.504615Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": 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young" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0011015", + "label": "Abnormal blood glucose concentration" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + }, + "onset": { + "ontologyClass": { + "id": "HP:0030674", + "label": "Antenatal onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613370", + "label": "Maturity-onset diabetes of the young, type 10" + } + } + ], + "metaData": { + "created": "2024-06-11T22:10:44.281282Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_11_patient_1.json new file mode 100644 index 000000000..e8130d46d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_11_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "maturity-onset_diabetes_of_the_young,_type_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025502", + "label": "Overweight" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613375", + "label": "Maturity-onset diabetes of the young, type 11" + } + } + ], + "metaData": { + "created": "2024-06-11T21:44:54.744336Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_13_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_13_patient_1.json new file mode 100644 index 000000000..f390eaff1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_13_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "maturity-onset_diabetes_of_the_young,_type_13", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000819", + "label": "Diabetes mellitus" + } + }, + { + "type": { + "id": "HP:0003074", + "label": "Hyperglycemia" + } + }, + { + "type": { + "id": "HP:0040217", + "label": "Elevated hemoglobin A1c" + } + }, + { + "type": { + "id": "HP:0032443", + "label": "Past medical history" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616329", + "label": "Maturity-onset diabetes of the young, type 13" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:32.166779Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_14_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_14_patient_1.json new file mode 100644 index 000000000..96ade0d1d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_14_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "maturity-onset_diabetes_of_the_young,_type_14", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000819", + "label": "Diabetes mellitus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616511", + "label": "Maturity-onset diabetes of the young, type 14" + } + } + ], + "metaData": { + "created": "2024-06-11T18:36:55.569689Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_1_patient_1.json new file mode 100644 index 000000000..dd5d21e95 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "maturity-onset_diabetes_of_the_young,_type_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031284", + "label": "Flushing" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125850", + "label": "Maturity-onset diabetes of the young, type 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:03:04.004777Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_4_patient_1.json new file mode 100644 index 000000000..757790e71 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_4_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "maturity-onset_diabetes_of_the_young,_type_4", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P31Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005978", + "label": "Type II diabetes mellitus" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011462", + "label": "Young adult onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606392", + "label": "Maturity-onset diabetes of the young, type 4" + } + } + ], + "metaData": { + "created": "2024-06-11T22:01:47.166999Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_III_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_III_patient_1.json new file mode 100644 index 000000000..848aa2e43 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_III_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "maturity-onset_diabetes_of_the_young,_type_iii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004904", + "label": "Maturity-onset diabetes of the young" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600496", + "label": "Maturity-onset diabetes of the young, type III" + } + } + ], + "metaData": { + "created": "2024-06-11T22:34:58.090859Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_II_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_II_patient_1.json new file mode 100644 index 000000000..6e300a1cd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_II_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "maturity-onset_diabetes_of_the_young,_type_ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004904", + "label": "Maturity-onset diabetes of the young" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125851", + "label": "Maturity-onset diabetes of the young, type II" + } + } + ], + "metaData": { + "created": "2024-06-11T21:25:16.422922Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_IX_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_IX_patient_1.json new file mode 100644 index 000000000..30af36a10 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_IX_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "maturity-onset_diabetes_of_the_young,_type_ix", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004904", + "label": "Maturity-onset diabetes of the young" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612225", + "label": "Maturity-onset diabetes of the young, type IX" + } + } + ], + "metaData": { + "created": "2024-06-11T23:56:47.945620Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_VII_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_VII_patient_1.json new file mode 100644 index 000000000..1518090bf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maturity_onset_diabetes_of_the_young_type_VII_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "maturity-onset_diabetes_of_the_young,_type_vii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004904", + "label": "Maturity-onset diabetes of the young" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610508", + "label": "Maturity-onset diabetes of the young, type VII" + } + } + ], + "metaData": { + "created": "2024-06-11T21:13:24.784015Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Maxillofacial_dysostosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maxillofacial_dysostosis_patient_1.json new file mode 100644 index 000000000..0ccc50659 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maxillofacial_dysostosis_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "maxillofacial_dysostosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000303", + "label": "Mandibular prognathia" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:155000", + "label": "Maxillofacial dysostosis" + } + } + ], + "metaData": { + "created": "2024-06-11T20:55:49.797304Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Maxillonasal_dysplasia_Binder_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maxillonasal_dysplasia_Binder_type_patient_1.json new file mode 100644 index 000000000..25de9a8fc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Maxillonasal_dysplasia_Binder_type_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "maxillonasal_dysplasia,_binder_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009748", + "label": "Large earlobe" + } + }, + { + "type": { + "id": "HP:0003196", + "label": "Short nose" + } + }, + { + "type": { + "id": "HP:0004609", + "label": "Patchy distortion of vertebrae" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:155050", + "label": "Maxillonasal dysplasia, Binder type" + } + } + ], + "metaData": { + "created": "2024-06-11T23:23:39.255961Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mayer_Rokitansky_Kuster_Hauser_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mayer_Rokitansky_Kuster_Hauser_syndrome_patient_1.json new file mode 100644 index 000000000..90727ec56 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mayer_Rokitansky_Kuster_Hauser_syndrome_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "mayer-rokitansky-kuster-hauser_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033131", + "label": "Renal medullary hyperechogenicity" + } + }, + { + "type": { + "id": "HP:0003250", + "label": "Aplasia of the vagina" + } + }, + { + "type": { + "id": "HP:0000147", + "label": "Polycystic ovaries" + } + }, + { + "type": { + "id": "HP:0000003", + "label": "Multicystic kidney dysplasia" + } + }, + { + "type": { + "id": "HP:0000786", + "label": "Primary amenorrhea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:277000", + "label": "Mayer-Rokitansky-Kuster-Hauser syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:48.868510Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/McCune_Albright_syndrome_somatic_mosaic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/McCune_Albright_syndrome_somatic_mosaic_patient_1.json new file mode 100644 index 000000000..270860986 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/McCune_Albright_syndrome_somatic_mosaic_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "mccune-albright_syndrome,_somatic,_mosaic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0000324", + "label": "Facial asymmetry" + } + }, + { + "type": { + "id": "HP:0004493", + "label": "Craniofacial hyperostosis" + } + }, + { + "type": { + "id": "HP:0005605", + "label": "Large cafe-au-lait macules with irregular margins" + } + }, + { + "type": { + "id": "HP:0002893", + "label": "Pituitary adenoma" + } + }, + { + "type": { + "id": "HP:0000836", + "label": "Hyperthyroidism" + } + }, + { + "type": { + "id": "HP:0000826", + "label": "Precocious puberty" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:174800", + "label": "McCune-Albright syndrome, somatic, mosaic" + } + } + ], + "metaData": { + "created": "2024-06-11T19:25:24.545648Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mckusick_Kaufman_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mckusick_Kaufman_syndrome_patient_1.json new file mode 100644 index 000000000..cae1b5a0b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mckusick_Kaufman_syndrome_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "mckusick-kaufman_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006097", + "label": "3-4 finger syndactyly" + } + }, + { + "type": { + "id": "HP:0008689", + "label": "Bilateral cryptorchidism" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0010880", + "label": "Increased nuchal translucency" + } + }, + { + "type": { + "id": "HP:0000008", + "label": "Abnormal morphology of female internal genitalia" + } + }, + { + "type": { + "id": "HP:0000142", + "label": "Abnormal vagina morphology" + } + }, + { + "type": { + "id": "HP:0030010", + "label": "Hydrometrocolpos" + } + }, + { + "type": { + "id": "HP:0009958", + "label": "Polydactyly affecting the 3rd finger" + } + }, + { + "type": { + "id": "HP:0000145", + "label": "Transverse vaginal septum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:236700", + "label": "Mckusick-Kaufman syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:30:55.274641Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mcleod_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mcleod_syndrome_patient_1.json new file mode 100644 index 000000000..569e5a2de --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mcleod_syndrome_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "mcleod_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0002197", + "label": "Generalized-onset seizure" + } + }, + { + "type": { + "id": "HP:0006938", + "label": "Impaired vibration sensation at ankles" + } + }, + { + "type": { + "id": "HP:0020181", + "label": "Reduced haptoglobin level" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0012076", + "label": "Borderline personality disorder" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:0009071", + "label": "Inflammatory myopathy" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0033228", + "label": "Triceps areflexia" + } + }, + { + "type": { + "id": "HP:6000029", + "label": "Social Anxiety" + } + }, + { + "type": { + "id": "HP:0031956", + "label": "Elevated circulating aspartate aminotransferase concentration" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + }, + { + "type": { + "id": "HP:0007098", + "label": "Paroxysmal choreoathetosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300842", + "label": "Mcleod syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:05:49.626630Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Meacham_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meacham_syndrome_patient_1.json new file mode 100644 index 000000000..0255fcf06 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meacham_syndrome_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "meacham_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033210", + "label": "Congenital alveolar dysplasia" + } + }, + { + "type": { + "id": "HP:0001195", + "label": "Single umbilical artery" + } + }, + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + }, + { + "type": { + "id": "HP:0008656", + "label": "Incomplete male pseudohermaphroditism" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0011681", + "label": "Subarterial ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0011720", + "label": "Cardiac total anomalous pulmonary venous connection" + } + }, + { + "type": { + "id": "HP:0011565", + "label": "Common atrium" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + }, + { + "type": { + "id": "HP:0009110", + "label": "Diaphragmatic eventration" + } + }, + { + "type": { + "id": "HP:0032592", + "label": "Aplasia of the right hemidiaphragm" + } + }, + { + "type": { + "id": "HP:0040045", + "label": "Abnormal hemidiaphragm morphology" + } + }, + { + "type": { + "id": "HP:0012243", + "label": "Abnormal reproductive system morphology" + } + }, + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + }, + { + "type": { + "id": "HP:0004383", + "label": "Hypoplastic left heart" + } + }, + { + "type": { + "id": "HP:0033353", + "label": "Abnormal blood vessel morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608978", + "label": "Meacham syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:40:11.001853Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_diverticulum_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_diverticulum_patient_1.json new file mode 100644 index 000000000..95fc78958 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_diverticulum_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "meckel_diverticulum", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002245", + "label": "Meckel diverticulum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:155140", + "label": "Meckel diverticulum" + } + } + ], + "metaData": { + "created": "2024-06-11T22:21:27.614236Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_syndrome_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_syndrome_11_patient_1.json new file mode 100644 index 000000000..9695d66ec --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_syndrome_11_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "meckel_syndrome_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001562", + "label": "Oligohydramnios" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615397", + "label": "Meckel syndrome 11" + } + } + ], + "metaData": { + "created": "2024-06-11T17:55:02.194773Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_syndrome_12_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_syndrome_12_patient_1.json new file mode 100644 index 000000000..e68b77a06 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_syndrome_12_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "meckel_syndrome_12", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006872", + "label": "Cerebral hypoplasia" + } + }, + { + "type": { + "id": "HP:0001321", + "label": "Cerebellar hypoplasia" + } + }, + { + "type": { + "id": "HP:0001562", + "label": "Oligohydramnios" + } + }, + { + "type": { + "id": "HP:0000340", + "label": "Sloping forehead" + } + }, + { + "type": { + "id": "HP:0000089", + "label": "Renal hypoplasia" + } + }, + { + "type": { + "id": "HP:0034392", + "label": "Joint contracture" + } + }, + { + "type": { + "id": "HP:0032464", + "label": "Ureteral hypoplasia" + } + }, + { + "type": { + "id": "HP:0000013", + "label": "Hypoplasia of the uterus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616258", + "label": "Meckel syndrome 12" + } + } + ], + "metaData": { + "created": "2024-06-11T18:03:15.294302Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_syndrome_13_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_syndrome_13_patient_1.json new file mode 100644 index 000000000..8556e6d8f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_syndrome_13_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "meckel_syndrome_13", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0410219", + "label": "Hypoplasia of mandible relative to maxilla" + } + }, + { + "type": { + "id": "HP:0034392", + "label": "Joint contracture" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617562", + "label": "Meckel syndrome 13" + } + } + ], + "metaData": { + "created": "2024-06-11T22:51:42.333003Z", + "createdBy": 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+++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_syndrome_type_5_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "meckel_syndrome,_type_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0002324", + "label": "Hydranencephaly" + } + }, + { + "type": { + "id": "HP:0001167", + "label": "Abnormal finger morphology" + } + }, + { + "type": { + "id": "HP:0002085", + "label": "Occipital encephalocele" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611561", + "label": "Meckel syndrome, type 5" + } + } + ], + "metaData": { + "created": "2024-06-11T21:21:52.858588Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_syndrome_type_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_syndrome_type_6_patient_1.json new file mode 100644 index 000000000..0fdea4884 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_syndrome_type_6_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "meckel_syndrome,_type_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001830", + "label": "Postaxial foot polydactyly" + } + }, + { + "type": { + "id": "HP:0001407", + "label": "Hepatic cysts" + } + }, + { + "type": { + "id": "HP:0001395", + "label": "Hepatic fibrosis" + } + }, + { + "type": { + "id": "HP:0002085", + "label": "Occipital encephalocele" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0002089", + "label": "Pulmonary hypoplasia" + } + }, + { + "type": { + "id": "HP:0000107", + "label": "Renal cyst" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0006557", + "label": "Polycystic liver disease" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0012437", + "label": "Abnormal gallbladder morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612284", + "label": "Meckel syndrome, type 6" + } + } + ], + "metaData": { + "created": "2024-06-11T22:37:43.123450Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_syndrome_type_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_syndrome_type_7_patient_1.json new file mode 100644 index 000000000..550094a3f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_syndrome_type_7_patient_1.json @@ -0,0 +1,146 @@ +{ + "id": "meckel_syndrome,_type_7", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001737", + "label": "Pancreatic cysts" + } + }, + { + "type": { + "id": "HP:0000023", + "label": "Inguinal hernia" + } + }, + { + "type": { + "id": "HP:0001433", + "label": "Hepatosplenomegaly" + } + }, + { + "type": { + "id": "HP:0000239", + "label": "Large fontanelles" + } + }, + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0001696", + "label": "Situs inversus totalis" + } + }, + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal defect" + } + }, + { + "type": { + "id": "HP:0002613", + "label": "Biliary cirrhosis" + } + }, + { + "type": { + "id": "HP:0001562", + "label": "Oligohydramnios" + }, + "onset": { + "ontologyClass": { + "id": "HP:0030674", + "label": "Antenatal onset" + } + } + }, + { + "type": { + "id": "HP:0001276", + "label": "Hypertonia" + } + }, + { + "type": { + "id": "HP:0001305", + "label": "Dandy-Walker malformation" + } + }, + { + "type": { + "id": "HP:0001667", + "label": "Right ventricular hypertrophy" + } + }, + { + "type": { + "id": "HP:0000107", + "label": "Renal cyst" + } + }, + { + "type": { + "id": "HP:0000348", + "label": "High forehead" + } + }, + { + "type": { + "id": "HP:0001080", + "label": "Biliary tract abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:267010", + "label": "Meckel syndrome, type 7" + } + } + ], + "metaData": { + "created": "2024-06-11T21:34:37.843652Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_syndrome_type_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_syndrome_type_8_patient_1.json new file mode 100644 index 000000000..c0a051dfe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_syndrome_type_8_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "meckel_syndrome,_type_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002084", + "label": "Encephalocele" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0002085", + "label": "Occipital encephalocele" + } + }, + { + "type": { + "id": "HP:0010442", + "label": "Polydactyly" + } + }, + { + "type": { + "id": "HP:0025700", + "label": "Anhydramnios" + } + }, + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613885", + "label": "Meckel syndrome, type 8" + } + } + ], + "metaData": { + "created": "2024-06-11T23:56:48.763080Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_syndrome_type_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_syndrome_type_9_patient_1.json new file mode 100644 index 000000000..f8ed287ca --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meckel_syndrome_type_9_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "meckel_syndrome,_type_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0000003", + "label": "Multicystic kidney dysplasia" + } + }, + { + "type": { + "id": "HP:0012366", + "label": "Basilar invagination" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614209", + "label": "Meckel syndrome, type 9" + } + } + ], + "metaData": { + "created": "2024-06-11T21:34:40.194587Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Meconium_ileus_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meconium_ileus_patient_1.json new file mode 100644 index 000000000..f67e9cec8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meconium_ileus_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "meconium_ileus", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004401", + "label": "Meconium ileus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614665", + "label": "Meconium ileus" + } + } + ], + "metaData": { + "created": "2024-06-11T18:08:35.963578Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mediosternal_depigmentation_line_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mediosternal_depigmentation_line_patient_1.json new file mode 100644 index 000000000..00896d0fe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mediosternal_depigmentation_line_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "mediosternal_depigmentation_line", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007581", + "label": "Mediosternal, longitudinal streak of hypopigmentation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:155200", + "label": "Mediosternal depigmentation line" + } + } + ], + "metaData": { + "created": "2024-06-11T20:26:02.151628Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Medium_chain_3_ketoacyl_coa_thiolase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Medium_chain_3_ketoacyl_coa_thiolase_deficiency_patient_1.json new file mode 100644 index 000000000..e81d03932 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Medium_chain_3_ketoacyl_coa_thiolase_deficiency_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "medium_chain_3-ketoacyl-coa_thiolase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002913", + "label": "Myoglobinuria" + } + }, + { + "type": { + "id": "HP:0002013", + "label": "Vomiting" + } + }, + { + "type": { + "id": "HP:0001944", + "label": "Dehydration" + } + }, + { + "type": { + "id": "HP:0001410", + "label": "Decreased liver function" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602199", + "label": "Medium chain 3-ketoacyl-coa thiolase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T17:55:06.955417Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Medullary_cystic_kidney_disease_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Medullary_cystic_kidney_disease_2_patient_1.json new file mode 100644 index 000000000..f89398e90 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Medullary_cystic_kidney_disease_2_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "medullary_cystic_kidney_disease_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001997", + "label": "Gout" + } + }, + { + "type": { + "id": "HP:0005562", + "label": "Multiple renal cysts" + } + }, + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603860", + "label": "Medullary cystic kidney disease 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:50:45.882188Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Meesmann_corneal_dystrophy_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meesmann_corneal_dystrophy_1_patient_1.json new file mode 100644 index 000000000..3d07dddcf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meesmann_corneal_dystrophy_1_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "meesmann_corneal_dystrophy_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007856", + "label": "Punctate opacification of the cornea" + } + }, + { + "type": { + "id": "HP:0030515", + "label": "Moderately reduced visual acuity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:122100", + "label": "Meesmann corneal dystrophy 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:41:43.547160Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Meesmann_corneal_dystrophy_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meesmann_corneal_dystrophy_2_patient_1.json new file mode 100644 index 000000000..fc6eee8e4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meesmann_corneal_dystrophy_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "meesmann_corneal_dystrophy_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618767", + "label": "Meesmann corneal dystrophy 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:23:35.493498Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Meester_Loeys_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meester_Loeys_syndrome_patient_1.json new file mode 100644 index 000000000..b7924f84f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meester_Loeys_syndrome_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "meester-loeys_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0000520", + "label": "Proptosis" + } + }, + { + "type": { + "id": "HP:0005627", + "label": "Type D brachydactyly" + } + }, + { + "type": { + "id": "HP:0010952", + "label": "Mild fetal ventriculomegaly" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0000212", + "label": "Gingival overgrowth" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0025015", + "label": "Abnormal vascular morphology" + } + }, + { + "type": { + "id": "HP:0003510", + "label": "Severe short stature" + } + }, + { + "type": { + "id": "HP:0200006", + "label": "Slanting of the palpebral fissure" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + }, + { + "type": { + "id": "HP:0034392", + "label": "Joint contracture" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300989", + "label": "Meester-Loeys syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:23:54.441087Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mega_corpus_callosum_syndrome_with_cerebellar_hypoplasia_and_cortical_malformations_patient_1.json 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100644 index 000000000..779d86bf3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Megacystis_microcolon_intestinal_hypoperistalsis_syndrome_3_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "megacystis-microcolon-intestinal_hypoperistalsis_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003270", + "label": "Abdominal distention" + } + }, + { + "type": { + "id": "HP:0000126", + "label": "Hydronephrosis" + } + }, + { + "type": { + "id": "HP:0025633", + "label": "Abnormal ureter morphology" + } + }, + { + "type": { + "id": "HP:0002250", + "label": "Abnormal large intestine morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619362", + "label": "Megacystis-microcolon-intestinal hypoperistalsis syndrome 3" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:20.931896Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Megalencephaly_Polymicrogyria_Polydactyly_Hydrocephalus_syndrome_2_patient_1.json new file mode 100644 index 000000000..a12d07126 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Megalencephaly_Polymicrogyria_Polydactyly_Hydrocephalus_syndrome_2_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001162", + "label": "Postaxial hand polydactyly" + } + }, + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + } + }, + { + "type": { + "id": "HP:0007206", + "label": "Hemimegalencephaly" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0002126", + "label": "Polymicrogyria" + } + }, + { + "type": { + "id": "HP:0000965", + "label": "Cutis marmorata" + } + } + ], + "diseases": [ 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Megalencephaly_Polymicrogyria_Polydactyly_Hydrocephalus_syndrome_3_patient_1.json new file mode 100644 index 000000000..7fa516ca6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Megalencephaly_Polymicrogyria_Polydactyly_Hydrocephalus_syndrome_3_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + } + }, + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615938", + "label": "Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3" + } + } + ], + "metaData": { + "created": "2024-06-11T20:58:24.155644Z", + "createdBy": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Megalencephaly_Polymicrogyria_Polydactyly_Hydrocephalus_syndrome_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0002808", + "label": "Kyphosis" + } + }, + { + "type": { + "id": "HP:0001090", + "label": "Abnormally large globe" + } + }, + { + "type": { + "id": "HP:0002118", + "label": "Abnormal cerebral ventricle morphology" + } + }, + { + "type": { + "id": "HP:0010442", + "label": "Polydactyly" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603387", + "label": "Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:48:13.219725Z", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Megalencephaly_capillary_malformation_polymicrogyria_syndrome_somatic_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "megalencephaly-capillary_malformation-polymicrogyria_syndrome,_somatic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000337", + "label": "Broad forehead" + } + }, + { + "type": { + "id": "HP:0002667", + "label": "Nephroblastoma" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0200006", + "label": "Slanting of the palpebral fissure" + } + }, + { + "type": { + "id": "HP:0011342", + "label": "Mild global 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Melanoma_cutaneous_malignant_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "melanoma,_cutaneous_malignant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001054", + "label": "Numerous nevi" + } + }, + { + "type": { + "id": "HP:0012059", + "label": "Lentigo maligna melanoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:155600", + "label": "Melanoma, cutaneous malignant" + } + } + ], + "metaData": { + "created": "2024-06-11T20:09:35.394079Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Melanoma_cutaneous_malignant_susceptibility_to_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "melanoma,_cutaneous_malignant,_susceptibility_to,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012056", + "label": "Cutaneous melanoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:155601", + "label": "Melanoma, cutaneous malignant, susceptibility to, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:48:18.273705Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Melanoma_cutaneous_malignant_susceptibility_to_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Melanoma_cutaneous_malignant_susceptibility_to_3_patient_1.json new file mode 100644 index 000000000..02cb6d6cf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Melanoma_cutaneous_malignant_susceptibility_to_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "melanoma,_cutaneous_malignant,_susceptibility_to,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001074", + "label": "Atypical nevi in non-sun exposed areas" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609048", + "label": "Melanoma, cutaneous malignant, susceptibility to, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T22:25:37.727912Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Melanoma_cutaneous_malignant_susceptibility_to_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Melanoma_cutaneous_malignant_susceptibility_to_8_patient_1.json new file mode 100644 index 000000000..e8d5192e7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Melanoma_cutaneous_malignant_susceptibility_to_8_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "melanoma,_cutaneous_malignant,_susceptibility_to,_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012056", + "label": "Cutaneous melanoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614456", + "label": "Melanoma, cutaneous malignant, susceptibility to, 8" + } + } + ], + "metaData": { + "created": "2024-06-12T00:30:24.721956Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Melanoma_cutaneous_malignant_susceptibility_to_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Melanoma_cutaneous_malignant_susceptibility_to_9_patient_1.json new file mode 100644 index 000000000..d38f148ad --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Melanoma_cutaneous_malignant_susceptibility_to_9_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "melanoma,_cutaneous_malignant,_susceptibility_to,_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002861", + "label": "Melanoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615134", + "label": "Melanoma, cutaneous malignant, susceptibility to, 9" + } + } + ], + "metaData": { + "created": "2024-06-11T19:38:58.511869Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Melanoma_malignant_familial_intraocular_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Melanoma_malignant_familial_intraocular_patient_1.json new file mode 100644 index 000000000..dfcec1a93 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Melanoma_malignant_familial_intraocular_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "melanoma,_malignant_familial_intraocular", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007716", + "label": "Uveal melanoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:155700", + "label": "Melanoma, malignant familial intraocular" + } + } + ], + "metaData": { + "created": "2024-06-11T18:01:43.567705Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Melanoma_uveal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Melanoma_uveal_patient_1.json new file mode 100644 index 000000000..ed6dc478c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Melanoma_uveal_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "melanoma,_uveal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007716", + "label": "Uveal melanoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:155720", + "label": "Melanoma, uveal" + } + } + ], + "metaData": { + "created": "2024-06-11T22:47:14.677547Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Melanoma_uveal_susceptibility_to_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Melanoma_uveal_susceptibility_to_2_patient_1.json new file mode 100644 index 000000000..b2adda533 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Melanoma_uveal_susceptibility_to_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "melanoma,_uveal,_susceptibility_to,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007716", + "label": "Uveal melanoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606661", + "label": "Melanoma, uveal, susceptibility to, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:04:52.573376Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Meleda_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meleda_disease_patient_1.json new file mode 100644 index 000000000..210ec6bb5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meleda_disease_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "meleda_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033194", + "label": "Perioral erythema" + } + }, + { + "type": { + "id": "HP:0001808", + "label": "Fragile nails" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:248300", + "label": "Meleda disease" + } + } + ], + "metaData": { + "created": "2024-06-11T18:54:43.825217Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Melkersson_Rosenthal_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Melkersson_Rosenthal_syndrome_patient_1.json new file mode 100644 index 000000000..dafbe8bef --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Melkersson_Rosenthal_syndrome_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "melkersson-rosenthal_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001324", + "label": "Muscle weakness" + } + }, + { + "type": { + "id": "HP:0002711", + "label": "Exaggerated median tongue furrow" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:155900", + "label": "Melkersson-Rosenthal syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:46:14.945124Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Melnick_Needles_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Melnick_Needles_syndrome_patient_1.json new file mode 100644 index 000000000..2e26da722 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Melnick_Needles_syndrome_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "melnick-needles_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002092", + "label": "Pulmonary arterial hypertension" + } + }, + { + "type": { + "id": "HP:0000684", + "label": "Delayed eruption of teeth" + } + }, + { + "type": { + "id": "HP:0002979", + "label": "Bowing of the legs" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0010665", + "label": "Bilateral coxa valga" + } + }, + { + "type": { + "id": "HP:0000915", + "label": "Pectus excavatum of inferior sternum" + } + }, + { + "type": { + "id": "HP:0011335", + "label": "Frontal hirsutism" + } + }, + { + "type": { + "id": "HP:0006608", + "label": "Midclavicular hypoplasia" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + }, + { + "type": { + "id": "HP:0045060", + "label": "Aplasia/hypoplasia involving bones of the extremities" + } + }, + { + "type": { + "id": "HP:0010521", + "label": "Gait apraxia" + } + }, + { + "type": { + "id": "HP:0006631", + "label": "Hypoplastic distal segments of scapulae" + } + }, + { + "type": { + "id": "HP:0004474", + "label": "Persistent open anterior fontanelle" + } + }, + { + "type": { + "id": "HP:0000549", + "label": "Abnormal conjugate eye movement" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:309350", + "label": "Melnick-Needles syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:28:13.834188Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Melorheostosis_isolated_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Melorheostosis_isolated_patient_1.json new file mode 100644 index 000000000..786fcfa49 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Melorheostosis_isolated_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "melorheostosis,_isolated", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100774", + "label": "Hyperostosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:155950", + "label": "Melorheostosis, isolated" + } + } + ], + "metaData": { + "created": "2024-06-11T19:37:45.889842Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Membranoproliferative_glomerulonephritis_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Membranoproliferative_glomerulonephritis_X_linked_patient_1.json new file mode 100644 index 000000000..92c02bc73 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Membranoproliferative_glomerulonephritis_X_linked_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "membranoproliferative_glomerulonephritis,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009125", + "label": "Lipodystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:305800", + "label": "Membranoproliferative glomerulonephritis, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-12T00:49:57.327686Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Membranous_cranial_ossification_delayed_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Membranous_cranial_ossification_delayed_patient_1.json new file mode 100644 index 000000000..8c7d91c4a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Membranous_cranial_ossification_delayed_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "membranous_cranial_ossification,_delayed", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:155980", + "label": "Membranous cranial ossification, delayed" + } + } + ], + "metaData": { + "created": "2024-06-11T20:21:38.027756Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mend_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mend_syndrome_patient_1.json new file mode 100644 index 000000000..716b30b08 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mend_syndrome_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "mend_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0001845", + "label": "Overlapping toe" + } + }, + { + "type": { + "id": "HP:0000565", + "label": "Esotropia" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0004736", + "label": "Crossed fused renal ectopia" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0010557", + "label": "Overlapping fingers" + } + }, + { + "type": { + "id": "HP:0001104", + "label": "Macular hypoplasia" + } + }, + { + "type": { + "id": "HP:0000237", + "label": "Small anterior fontanelle" + } + }, + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0010055", + "label": "Broad hallux" + } + }, + { + "type": { + "id": "HP:0025668", + "label": "Abnormal neck morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300960", + "label": "Mend syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T17:50:18.554298Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Meniere_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meniere_disease_patient_1.json new file mode 100644 index 000000000..93b90c735 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meniere_disease_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "meniere_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0002321", + "label": "Vertigo" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:156000", + "label": "Meniere disease" + } + } + ], + "metaData": { + "created": "2024-06-11T23:15:45.501145Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Meningioma_familial_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meningioma_familial_susceptibility_to_patient_1.json new file mode 100644 index 000000000..b025adb4e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Meningioma_familial_susceptibility_to_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "meningioma,_familial,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002858", + "label": "Meningioma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607174", + "label": "Meningioma, familial, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:29.149436Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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+ "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0002788", + "label": "Recurrent upper respiratory tract infections" + } + }, + { + "type": { + "id": "HP:0002000", + "label": "Short columella" + } + }, + { + "type": { + "id": "HP:0000321", + "label": "Square face" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0000506", + "label": "Telecanthus" + } + }, + { + "type": { + "id": "HP:0002020", + "label": "Gastroesophageal reflux" + } + }, + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0000729", + "label": "Autistic behavior" + } + }, + { + "type": { + "id": "HP:0000411", + "label": "Protruding ear" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0001371", + "label": "Flexion contracture" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0003196", + "label": "Short nose" + } + }, + { + "type": { + "id": "HP:0031936", + "label": "Delayed ability to walk" + } + }, + { + "type": { + "id": "HP:0000309", + "label": "Abnormal midface morphology" + } + }, + { + "type": { + "id": "HP:6000503", + "label": "4-5 toe cutaneous syndactyly" + } + }, + { + "type": { + "id": "HP:0200007", + "label": "Abnormal size of the palpebral fissures" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618332", + "label": "Menke-Hennekam syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:48:10.371238Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Menke_Hennekam_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Menke_Hennekam_syndrome_2_patient_1.json new file mode 100644 index 000000000..10147eaff --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Menke_Hennekam_syndrome_2_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "menke-hennekam_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0031936", + "label": "Delayed ability to walk" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0002002", + "label": "Deep philtrum" + } + }, + { + "type": { + "id": "HP:0200006", + "label": "Slanting of the palpebral fissure" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0000717", + "label": "Autism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618333", + "label": "Menke-Hennekam syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:37:17.843970Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Menkes_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Menkes_disease_patient_1.json new file mode 100644 index 000000000..c60e70968 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Menkes_disease_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "menkes_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0001596", + "label": "Alopecia" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:309400", + "label": "Menkes disease" + } + } + ], + "metaData": { + "created": "2024-06-11T18:07:08.507533Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_and_growth_retardation_with_amblyopia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_and_growth_retardation_with_amblyopia_patient_1.json new file mode 100644 index 000000000..575105938 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_and_growth_retardation_with_amblyopia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "mental_and_growth_retardation_with_amblyopia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000646", + "label": "Amblyopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:156190", + "label": "Mental and growth retardation with amblyopia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:57:57.832644Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_100_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_100_patient_1.json new file mode 100644 index 000000000..95292f952 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_100_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "mental_retardation,_x-linked_100", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P7Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300923", + "label": "Mental retardation, X-linked 100" + } + } + ], + "metaData": { + "created": 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+1,63 @@ +{ + "id": "mental_retardation,_x-linked_101", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0002465", + "label": "Poor speech" + } + }, + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300928", + "label": "Mental retardation, X-linked 101" + } + } + ], + "metaData": { + "created": "2024-06-11T19:52:59.844384Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_103_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_103_patient_1.json new file mode 100644 index 000000000..f0f9da010 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_103_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "mental_retardation,_x-linked_103", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004279", + "label": "Short palm" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0000054", + "label": "Micropenis" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0008689", + "label": "Bilateral cryptorchidism" + } + }, + { + "type": { + "id": "HP:0000154", + "label": "Wide mouth" + } + }, + { + "type": { + "id": "HP:0006956", + "label": "Lateral ventricle dilatation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300982", + "label": "Mental retardation, X-linked 103" + } + } + ], + "metaData": { + "created": "2024-06-11T22:49:52.291453Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_20_patient_1.json new file mode 100644 index 000000000..f14a098d7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_20_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "mental_retardation,_x-linked_20", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300047", + "label": "Mental retardation, X-linked 20" + } + } + ], + "metaData": { + "created": "2024-06-11T20:48:22.771531Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian 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"Mental retardation, X-linked 23" + } + } + ], + "metaData": { + "created": "2024-06-11T20:54:53.093186Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_2_patient_1.json new file mode 100644 index 000000000..8dd50bed4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "mental_retardation,_x-linked_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002275", + "label": "Poor motor coordination" + } + }, + { + "type": { + "id": "HP:0002050", + "label": "Macroorchidism, postpubertal" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300428", + "label": "Mental retardation, X-linked 2" + } + } + ], + "metaData": { + "created": "2024-06-12T02:23:14.232914Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_41_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_41_patient_1.json new file mode 100644 index 000000000..fd3ae4b87 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_41_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "mental_retardation,_x-linked_41", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001328", + "label": "Specific learning disability" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300849", + "label": "Mental retardation, X-linked 41" + } + } + ], + "metaData": { + "created": "2024-06-11T20:09:13.363557Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_45_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_45_patient_1.json new file mode 100644 index 000000000..24afc83b2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_45_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "mental_retardation,_x-linked_45", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300498", + "label": "Mental retardation, X-linked 45" + } + } + ], + "metaData": { + "created": "2024-06-11T21:03:39.561117Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_46_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_46_patient_1.json new file mode 100644 index 000000000..8efd2edf6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_46_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "mental_retardation,_x-linked_46", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300436", + "label": "Mental retardation, X-linked 46" + } + } + ], + "metaData": { + "created": "2024-06-11T18:53:47.953149Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_50_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_50_patient_1.json new file mode 100644 index 000000000..06da7981d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_50_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "mental_retardation,_x-linked_50", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + } + ], + "diseases": [ + { + "term": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_53_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "mental_retardation,_x-linked_53", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300324", + "label": "Mental retardation, X-linked 53" + } + } + ], + "metaData": { + "created": "2024-06-11T21:00:04.498401Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_58_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_58_patient_1.json new file mode 100644 index 000000000..c53dc2975 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_58_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "mental_retardation,_x-linked_58", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000276", + "label": "Long face" + } + }, + { + "type": { + "id": "HP:0001792", + "label": "Small nail" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0011345", + "label": "Moderate expressive language delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300210", + "label": "Mental retardation, X-linked 58" + } + } + ], + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_63_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "mental_retardation,_x-linked_63", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300387", + "label": "Mental retardation, X-linked 63" + } + } + ], + "metaData": { + "created": "2024-06-11T18:55:44.807264Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_72_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_72_patient_1.json new file mode 100644 index 000000000..ad4a9c47f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_72_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "mental_retardation,_x-linked_72", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000752", + "label": "Hyperactivity" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000268", + "label": "Dolichocephaly" + } + }, + { + "type": { + "id": "HP:0000256", + "label": "Macrocephaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300271", + "label": "Mental retardation, X-linked 72" + } + } + ], + "metaData": { + "created": "2024-06-11T22:29:29.382430Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_73_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_73_patient_1.json new file mode 100644 index 000000000..a3fe9a70c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_73_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "mental_retardation,_x-linked_73", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300355", + "label": "Mental retardation, X-linked 73" + } + } + ], + "metaData": { + "created": "2024-06-11T18:30:32.503509Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_81_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_81_patient_1.json new file mode 100644 index 000000000..ec5258249 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_81_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "mental_retardation,_x-linked_81", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300433", + "label": "Mental retardation, X-linked 81" + } + } + ], + "metaData": { + "created": "2024-06-11T18:29:46.916064Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_84_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_84_patient_1.json new file mode 100644 index 000000000..7ddf24fa9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_X_linked_84_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "mental_retardation,_x-linked_84", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0002342", + "label": "Intellectual disability, moderate" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300505", + "label": "Mental retardation, X-linked 84" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:31.373788Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_autosomal_recessive_29_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_autosomal_recessive_29_patient_1.json new file mode 100644 index 000000000..12908b536 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_autosomal_recessive_29_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "mental_retardation,_autosomal_recessive_29", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614333", + "label": "Mental retardation, autosomal recessive 29" + } + } + ], + "metaData": { + "created": "2024-06-11T23:32:56.837915Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + 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000000000..37ad1cbf8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_autosomal_recessive_37_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "mental_retardation,_autosomal_recessive_37", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615493", + "label": "Mental retardation, autosomal recessive 37" + } + } + ], + "metaData": { + "created": "2024-06-11T19:35:11.355906Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_autosomal_recessive_53_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "mental_retardation,_autosomal_recessive_53", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002187", + "label": "Intellectual disability, profound" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0002059", + "label": "Cerebral atrophy" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0006852", + "label": "Episodic generalized hypotonia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616917", + "label": "Mental retardation, autosomal recessive 53" + } + } + ], + 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_autosomal_recessive_58_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_autosomal_recessive_58_patient_1.json new file mode 100644 index 000000000..cb3f79c98 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_autosomal_recessive_58_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "mental_retardation,_autosomal_recessive_58", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0002421", + "label": "Poor head control" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001266", + "label": "Choreoathetosis" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617270", + "label": "Mental retardation, autosomal recessive 58" + } + } + ], + "metaData": { + "created": "2024-06-11T21:37:17.432408Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_autosomal_recessive_66_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_autosomal_recessive_66_patient_1.json new file mode 100644 index 000000000..6037e8317 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_autosomal_recessive_66_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "mental_retardation,_autosomal_recessive_66", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + }, + { + "type": { + "id": "HP:0000729", + "label": "Autistic behavior" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0008760", + "label": "Violent behavior" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618221", + "label": "Mental retardation, autosomal recessive 66" + } + } + ], + "metaData": { + "created": "2024-06-11T21:31:43.600601Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_enteropathy_deafness_peripheral_neuropathy_ichthyosis_and_keratoderma_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_enteropathy_deafness_peripheral_neuropathy_ichthyosis_and_keratoderma_patient_1.json new file mode 100644 index 000000000..77deab570 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_enteropathy_deafness_peripheral_neuropathy_ichthyosis_and_keratoderma_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "mental_retardation,_enteropathy,_deafness,_peripheral_neuropathy,_ichthyosis,_and_keratoderma", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008064", + "label": "Ichthyosis" + } + }, + { + "type": { + "id": "HP:0033643", + "label": "Increased circulating very long-chain fatty acid concentration" + } + }, + { + "type": { + "id": "HP:0005235", + "label": "Jejunal atresia" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0002014", + "label": "Diarrhea" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0000348", + "label": "High forehead" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609313", + "label": "Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" + } + } + ], + "metaData": { + "created": "2024-06-11T21:04:36.685667Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": 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@@ -0,0 +1,57 @@ +{ + "id": "mental_retardation,_keratoconus,_febrile_seizures,_and_sinoatrialblock", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012723", + "label": "Sinoatrial block" + } + }, + { + "type": { + "id": "HP:0006887", + "label": "Intellectual disability, progressive" + } + }, + { + "type": { + "id": "HP:0000572", + "label": "Visual loss" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609438", + "label": "Mental retardation, keratoconus, febrile seizures, and sinoatrialblock" + } + } + ], + "metaData": { + "created": "2024-06-11T23:32:40.856742Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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"type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601352", + "label": "Mental retardation, microcephaly, epilepsy, and coarse face" + } + } + ], + "metaData": { + "created": "2024-06-11T20:54:04.223806Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_microcephaly_growth_retardation_joint_contractures_and_facial_dysmorphism_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_microcephaly_growth_retardation_joint_contractures_and_facial_dysmorphism_patient_1.json new file mode 100644 index 000000000..721c9bcc9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_microcephaly_growth_retardation_joint_contractures_and_facial_dysmorphism_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "mental_retardation,_microcephaly,_growth_retardation,_joint_contractures,and_facial_dysmorphism", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0000349", + "label": "Widow's peak" + } + }, + { + "type": { + "id": "HP:0001220", + "label": "Interphalangeal joint contracture of finger" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + }, + { + "type": { + "id": "HP:0010442", + "label": "Polydactyly" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606242", + "label": "Mental retardation, microcephaly, growth retardation, joint contractures,and facial dysmorphism" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:23.286566Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_obesity_mandibular_prognathism_and_eye_and_skinanomalies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_obesity_mandibular_prognathism_and_eye_and_skinanomalies_patient_1.json new file mode 100644 index 000000000..7df9ecc1b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_obesity_mandibular_prognathism_and_eye_and_skinanomalies_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "mental_retardation,_obesity,_mandibular_prognathism,_and_eye_and_skinanomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010579", + "label": "Cone-shaped epiphysis" + } + }, + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0006897", + "label": "Abducens palsy" + } + }, + { + "type": { + "id": "HP:0000692", + "label": "Tooth malposition" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606772", + "label": "Mental retardation, obesity, mandibular prognathism, and eye and skinanomalies" + } + } + ], + "metaData": { + "created": "2024-06-11T19:42:03.242495Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_skeletal_dysplasia_and_abducens_palsy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_skeletal_dysplasia_and_abducens_palsy_patient_1.json new file mode 100644 index 000000000..c485e4327 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_skeletal_dysplasia_and_abducens_palsy_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "mental_retardation,_skeletal_dysplasia,_and_abducens_palsy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005487", + "label": "Prominent metopic ridge" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0006897", + "label": "Abducens palsy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:309620", + "label": "Mental retardation, skeletal dysplasia, and abducens palsy" + } + } + ], + "metaData": { + "created": "2024-06-11T23:25:23.188747Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_syndrome_Mietens_Weber_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_syndrome_Mietens_Weber_type_patient_1.json new file mode 100644 index 000000000..f4f9c3b43 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_syndrome_Mietens_Weber_type_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "mental_retardation_syndrome,_mietens-weber_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003083", + "label": "Dislocated radial head" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0005093", + "label": "Absent proximal radial epiphyses" + } + }, + { + "type": { + "id": "HP:0002987", + "label": "Elbow flexion contracture" + } + }, + { + "type": { + "id": "HP:0001763", + "label": "Pes planus" + } + }, + { + "type": { + "id": "HP:0000460", + "label": "Narrow nose" + } + }, + { + "type": { + "id": "HP:0000549", + "label": "Abnormal conjugate eye movement" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:249600", + "label": "Mental retardation syndrome, Mietens-Weber type" + } + } + ], + "metaData": { + "created": "2024-06-11T23:19:39.073662Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_syndrome_X_linked_Armfield_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_syndrome_X_linked_Armfield_type_patient_1.json new file mode 100644 index 000000000..113b27c9b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_syndrome_X_linked_Armfield_type_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "mental_retardation_syndrome,_x-linked,_armfield_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0008929", + "label": "Asymmetric short stature" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0200055", + "label": "Small hand" + } + }, + { + "type": { + "id": "HP:0012373", + "label": "Abnormal eye physiology" + } + }, + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300261", + "label": "Mental retardation syndrome, X-linked, Armfield type" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_truncal_obesity_retinal_dystrophy_and_micropenis_syndrome_patient_1.json @@ -0,0 +1,74 @@ +{ + "id": "mental_retardation,_truncal_obesity,_retinal_dystrophy,_and_micropenis_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P7Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0011143", + "label": "Age-related cortical cataract" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0008915", + "label": "Childhood-onset truncal obesity" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610156", + "label": "Mental retardation, truncal obesity, retinal dystrophy, and micropenis syndrome" + } + } + ], + "metaData": { + "created": "2024-06-12T00:30:20.769590Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_with_language_impairment_and_with_or_without_autistic_features_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_with_language_impairment_and_with_or_without_autistic_features_patient_1.json new file mode 100644 index 000000000..4c3484efd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_with_language_impairment_and_with_or_without_autistic_features_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "mental_retardation_with_language_impairment_and_with_or_without_autistic_features", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000732", + "label": "Inflexible adherence to routines" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0000739", + "label": "Anxiety" + } + }, + { + "type": { + "id": "HP:0003196", + "label": "Short nose" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0004481", + "label": "Progressive macrocephaly" + } + }, + { + "type": { + "id": "HP:0000194", + "label": "Open mouth" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:5200241", + "label": "Recurrent maladaptive behavior" + } + }, + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613670", + "label": "Mental retardation with language impairment and with or without autistic features" + } + } + ], + "metaData": { + "created": "2024-06-11T22:41:22.434692Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + 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"mental_retardation_with_optic_atrophy,_deafness,_and_seizures", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000618", + "label": "Blindness" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + }, + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0002060", + "label": "Abnormal cerebral morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:309555", + "label": "Mental retardation with optic atrophy, deafness, and seizures" + } + } + ], + "metaData": { + "created": "2024-06-11T22:54:36.960605Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_with_optic_atrophy_facial_dysmorphism_microcephaly_and_short_stature_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_with_optic_atrophy_facial_dysmorphism_microcephaly_and_short_stature_patient_1.json new file mode 100644 index 000000000..c2a981541 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_with_optic_atrophy_facial_dysmorphism_microcephaly_and_short_stature_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "mental_retardation_with_optic_atrophy,_facial_dysmorphism,_microcephaly,and_short_stature", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0009906", + "label": "Aplasia/Hypoplasia of the earlobes" + } + }, + { + "type": { + "id": "HP:0000276", + "label": "Long face" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609037", + "label": "Mental retardation with optic atrophy, facial dysmorphism, microcephaly,and short stature" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_with_spastic_paraplegia_and_palmoplantar_hyperkeratosis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "mental_retardation_with_spastic_paraplegia_and_palmoplantar_hyperkeratosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001337", + "label": "Tremor" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:309560", + "label": "Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis" + } + } + ], + "metaData": { + "created": "2024-06-11T17:57:39.011437Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_x_linked_syndromic_Christianson_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_x_linked_syndromic_Christianson_type_patient_1.json new file mode 100644 index 000000000..726e6563c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_x_linked_syndromic_Christianson_type_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "mental_retardation,_x-linked_syndromic,_christianson_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + }, + { + "type": { + "id": "HP:0007207", + "label": "Photosensitive tonic-clonic seizure" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000275", + "label": "Narrow face" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0002529", + "label": "Neuronal loss in central nervous system" + } + }, + { + "type": { + "id": "HP:0011182", + "label": "Interictal epileptiform activity" + } + }, + { + "type": { + "id": "HP:0010992", + "label": "Stress urinary incontinence" + } + }, + { + "type": { + "id": "HP:0001167", + "label": "Abnormal finger morphology" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0003808", + "label": "Abnormal muscle tone" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300243", + "label": "Mental retardation, x-linked syndromic, Christianson type" + } + } + ], + "metaData": { + "created": "2024-06-11T19:58:56.159414Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_x_linked_syndromic_Raymond_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_x_linked_syndromic_Raymond_type_patient_1.json new file mode 100644 index 000000000..8709ac18b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_x_linked_syndromic_Raymond_type_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "mental_retardation,_x-linked_syndromic,_raymond_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000768", + "label": "Pectus carinatum" + } + }, + { + "type": { + "id": "HP:0000411", + "label": "Protruding ear" + } + }, + { + "type": { + "id": "HP:0001519", + "label": "Disproportionate tall stature" + } + }, + { + "type": { + "id": "HP:0001166", + "label": "Arachnodactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300799", + "label": "Mental retardation, x-linked syndromic, Raymond type" + } + } + ], + "metaData": { + "created": "2024-06-11T22:47:50.320456Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_x_linked_syndromic_Turner_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_x_linked_syndromic_Turner_type_patient_1.json new file mode 100644 index 000000000..00a92954f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_x_linked_syndromic_Turner_type_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "mental_retardation,_x-linked,_syndromic,_turner_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000256", + "label": "Macrocephaly" + } + }, + { + "type": { + "id": "HP:0005060", + "label": "Limited elbow flexion/extension" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300706", + "label": "Mental retardation, x-linked, syndromic, Turner type" + } + } + ], + "metaData": { + "created": "2024-06-11T21:35:42.913892Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_x_linked_syndromic_Turner_type_patient_2.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_x_linked_syndromic_Turner_type_patient_2.json new file mode 100644 index 000000000..b6dc56015 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mental_retardation_x_linked_syndromic_Turner_type_patient_2.json @@ -0,0 +1,129 @@ +{ + "id": "mental_retardation,_x-linked_syndromic,_turner_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0100807", + "label": "Long fingers" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + }, + { + "type": { + "id": "HP:0002187", + "label": "Intellectual disability, profound" + } + }, + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0000276", + "label": "Long face" + } + }, + { + "type": { + "id": "HP:0032988", + "label": "Persistent head lag" + } + }, + { + "type": { + "id": "HP:0002162", + "label": "Low posterior hairline" + } + }, + { + "type": { + "id": "HP:0031936", + "label": "Delayed ability to walk" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0000322", + "label": "Short philtrum" + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:0012741", + "label": "Unilateral cryptorchidism" + } + }, + { + "type": { + "id": "HP:0008386", + "label": "Aplasia/Hypoplasia of the nails" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:309590", + "label": "Mental retardation, x-linked syndromic, Turner type" + } + } + ], + "metaData": { + "created": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mercaptolactate_Cysteine_disulfiduria_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mercaptolactate_Cysteine_disulfiduria_patient_1.json new file mode 100644 index 000000000..8147a7e72 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mercaptolactate_Cysteine_disulfiduria_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "mercaptolactate-cysteine_disulfiduria", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002069", + "label": "Bilateral tonic-clonic seizure" + } + }, + { + "type": { + "id": "HP:0002375", + "label": "Hypokinesia" + } + }, + { + "type": { + "id": "HP:0002705", + "label": "High, narrow palate" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:249650", + "label": "Mercaptolactate-Cysteine disulfiduria" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mesangial_sclerosis_diffuse_renal_with_ocular_abnormalities_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "mesangial_sclerosis,_diffuse_renal,_with_ocular_abnormalities", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:249660", + "label": "Mesangial sclerosis, diffuse renal, with ocular abnormalities" + } + } + ], + "metaData": { + "created": "2024-06-11T21:15:27.776735Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + 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} + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mesomelia_Synostoses_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mesomelia_Synostoses_syndrome_patient_1.json new file mode 100644 index 000000000..fa9e1aa7f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mesomelia_Synostoses_syndrome_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "mesomelia-synostoses_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100328", + "label": "Carpometacarpal synostosis" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:0009487", + "label": "Ulnar deviation of the hand" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0000506", + "label": "Telecanthus" + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mesothelioma_malignant_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "mesothelioma,_malignant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100001", + "label": "Malignant mesothelioma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:156240", + "label": "Mesothelioma, malignant" + } + } + ], + "metaData": { + "created": "2024-06-11T19:54:01.740968Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Metabolic_crises_recurrent_with_variable_encephalomyopathic_features_and_neurologic_regression_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Metabolic_crises_recurrent_with_variable_encephalomyopathic_features_and_neurologic_regression_patient_1.json new file mode 100644 index 000000000..0102a32d3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Metabolic_crises_recurrent_with_variable_encephalomyopathic_features_and_neurologic_regression_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "metabolic_crises,_recurrent,_with_variable_encephalomyopathic_features_and_neurologic_regression", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0025336", + "label": "Delayed ability to sit" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Metabolic_encephalomyopathic_crises_recurrent_with_rhabdomyolysis_cardiac_arrhythmias_and_neurodegeneration_patient_1.json new file mode 100644 index 000000000..daf0eb735 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Metabolic_encephalomyopathic_crises_recurrent_with_rhabdomyolysis_cardiac_arrhythmias_and_neurodegeneration_patient_1.json @@ -0,0 +1,195 @@ +{ + "id": "metabolic_encephalomyopathic_crises,_recurrent,_with_rhabdomyolysis,_cardiac_arrhythmias,_and_neurodegeneration", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0200136", + "label": "Oral-pharyngeal dysphagia" + } + }, + { + "type": { + "id": "HP:0001943", + "label": "Hypoglycemia" + } + }, + { + "type": { + "id": "HP:0002059", + "label": "Cerebral atrophy" + } 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Metachondromatosis_patient_1.json new file mode 100644 index 000000000..792e01a1f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Metachondromatosis_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "metachondromatosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002762", + "label": "Multiple exostoses" + } + }, + { + "type": { + "id": "HP:0005701", + "label": "Multiple enchondromatosis" + } + }, + { + "type": { + "id": "HP:0001367", + "label": "Abnormal joint morphology" + } + }, + { + "type": { + "id": "HP:0006487", + "label": "Bowing of the long bones" + } + }, + { + "type": { + "id": "HP:0005655", + "label": "Multiple digital exostoses" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:156250", + "label": "Metachondromatosis" + } + } + ], + "metaData": { + "created": "2024-06-11T20:33:44.313091Z", + "createdBy": "phenotype2phenopacket", + "resources": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Metaphyseal_anadysplasia_2_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "metaphyseal_anadysplasia_2", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003016", + "label": "Metaphyseal widening" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613073", + "label": "Metaphyseal anadysplasia 2" + } + } + ], + "metaData": { + "created": "2024-06-12T01:06:38.186898Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + 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"label": "Increased susceptibility to fractures" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0012409", + "label": "Cortical nephrocalcinosis" + } + }, + { + "type": { + "id": "HP:0004912", + "label": "Hypophosphatemic rickets" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:156400", + "label": "Metaphyseal chondrodysplasia, Jansen type" + } + } + ], + "metaData": { + "created": "2024-06-11T23:52:16.124477Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Metaphyseal_chondrodysplasia_Pena_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Metaphyseal_chondrodysplasia_Pena_type_patient_1.json new file mode 100644 index 000000000..e98e49e9f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Metaphyseal_chondrodysplasia_Pena_type_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "metaphyseal_chondrodysplasia,_pena_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001939", + "label": "Abnormality of metabolism/homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:250300", + "label": "Metaphyseal chondrodysplasia, Pena type" + } + } + ], + "metaData": { + "created": "2024-06-11T20:50:49.624525Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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"patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003016", + "label": "Metaphyseal widening" + } + }, + { + "type": { + "id": "HP:0006414", + "label": "Distal tibial bowing" + } + }, + { + "type": { + "id": "HP:0003502", + "label": "Mild short stature" + } + }, + { + "type": { + "id": "HP:0009767", + "label": "Aplasia/Hypoplasia of the phalanges of the hand" + } + }, + { + "type": { + "id": "HP:0002515", + "label": "Waddling gait" + } + }, + { + "type": { + "id": "HP:0003371", + "label": "Enlargement of the proximal femoral epiphysis" + } + }, + { + "type": { + "id": "HP:0006429", + "label": "Broad femoral neck" + } + }, + { + "type": { + "id": "HP:0003301", + "label": "Irregular vertebral endplates" + } + }, + { + "type": { + "id": "HP:0005090", + "label": "Lateral femoral bowing" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:156500", + "label": "Metaphyseal chondrodysplasia, Schmid type" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Metaphyseal_chondrodysplasia_Spahr_type_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "metaphyseal_chondrodysplasia,_spahr_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002857", + "label": "Genu valgum" + } + }, + { + "type": { + "id": "HP:0005871", + "label": "Metaphyseal chondrodysplasia" + } + }, + { + "type": { + "id": "HP:0009815", + "label": "Aplasia/hypoplasia of the extremities" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:250400", + "label": "Metaphyseal chondrodysplasia, Spahr type" + } + } + ], + "metaData": { + "created": "2024-06-11T17:54:43.027896Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Metaphyseal_dysostosis_mental_retardation_and_conductive_deafness_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Metaphyseal_dysostosis_mental_retardation_and_conductive_deafness_patient_1.json new file mode 100644 index 000000000..e970f7ae1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Metaphyseal_dysostosis_mental_retardation_and_conductive_deafness_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "metaphyseal_dysostosis,_mental_retardation,_and_conductive_deafness", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0001134", + "label": "Anterior polar cataract" + } + }, + { + "type": { + "id": "HP:0000773", + "label": "Short ribs" + } + }, + { + "type": { + "id": "HP:0001597", + "label": "Abnormality of the nail" + } + }, + { + "type": { + "id": "HP:0000405", + "label": "Conductive hearing impairment" + } + }, + { + "type": { + "id": "HP:0003796", + "label": "Irregular iliac crest" + } + }, + { + "type": { + "id": "HP:0100255", + "label": "Metaphyseal dysplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:250420", + "label": "Metaphyseal dysostosis, mental retardation, and conductive deafness" + } + } + ], + "metaData": { + "created": "2024-06-11T22:55:06.302164Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Metaphyseal_dysplasia_with_maxillary_hypoplasia_and_brachydactyly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Metaphyseal_dysplasia_with_maxillary_hypoplasia_and_brachydactyly_patient_1.json new file mode 100644 index 000000000..cd053b355 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Metaphyseal_dysplasia_with_maxillary_hypoplasia_and_brachydactyly_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "metaphyseal_dysplasia_with_maxillary_hypoplasia_and_brachydactyly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010047", + "label": "Short 5th metacarpal" + } + }, + { + "type": { + "id": "HP:0003015", + "label": "Flared metaphysis" + } + }, + { + "type": { + "id": "HP:0004220", + "label": "Short middle phalanx of the 5th finger" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0008848", + "label": "Moderately short stature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:156510", + "label": "Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly" + } + } + ], + "metaData": { + "created": "2024-06-11T21:09:28.507910Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Metaphyseal_dysplasia_without_hypotrichosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Metaphyseal_dysplasia_without_hypotrichosis_patient_1.json new file mode 100644 index 000000000..a83c2ea8b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Metaphyseal_dysplasia_without_hypotrichosis_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "metaphyseal_dysplasia_without_hypotrichosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010230", + "label": "Cone-shaped epiphyses of the phalanges of the hand" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0100255", + "label": "Metaphyseal dysplasia" + } + }, + { + "type": { + "id": "HP:0010740", + "label": "Osteopathia striata" + } + }, + { + "type": { + "id": "HP:0005042", + "label": "Irregular, rachitic-like metaphyses" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:250460", + "label": "Metaphyseal dysplasia without hypotrichosis" + } + } + ], + "metaData": { + "created": "2024-06-11T19:58:58.148374Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Metaphyseal_modeling_abnormality_skin_lesions_and_spastic_paraplegia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Metaphyseal_modeling_abnormality_skin_lesions_and_spastic_paraplegia_patient_1.json new file mode 100644 index 000000000..24706b1bd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Metaphyseal_modeling_abnormality_skin_lesions_and_spastic_paraplegia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "metaphyseal_modeling_abnormality,_skin_lesions,_and_spastic_paraplegia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011001", + "label": "Increased bone mineral density" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:250500", + "label": "Metaphyseal modeling abnormality, skin lesions, and spastic paraplegia" + } + } + ], + "metaData": { + "created": "2024-06-11T19:47:43.386119Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Metatarsus_varus_type_I_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Metatarsus_varus_type_I_patient_1.json new file mode 100644 index 000000000..d167fc4d8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Metatarsus_varus_type_I_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "metatarsus_varus,_type_i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001840", + "label": "Metatarsus adductus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:156520", + "label": "Metatarsus varus, type I" + } + } + ], + "metaData": { + "created": "2024-06-11T20:46:38.172190Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Metatropic_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Metatropic_dysplasia_patient_1.json new file mode 100644 index 000000000..547eca1ad --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Metatropic_dysplasia_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "metatropic_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003015", + "label": "Flared metaphysis" + } + }, + { + "type": { + "id": "HP:0000904", + "label": "Flaring of rib cage" + } + }, + { + "type": { + "id": "HP:0000887", + "label": "Cupped ribs" + } + }, + { + "type": { + "id": "HP:0006375", + "label": "Dumbbell-shaped femur" + } + }, + { + "type": { + "id": "HP:0001384", + "label": "Abnormal hip joint morphology" + } + }, + { + "type": { + "id": "HP:0005257", + "label": "Thoracic hypoplasia" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0008453", + "label": "Congenital kyphoscoliosis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0002644", + "label": "Abnormal pelvic girdle bone morphology" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:156530", + "label": "Metatropic dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T19:39:03.899729Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Methemoglobinemia_Alpha_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Methemoglobinemia_Alpha_type_patient_1.json new file mode 100644 index 000000000..76782d957 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Methemoglobinemia_Alpha_type_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "methemoglobinemia,_alpha_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000961", + "label": "Cyanosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617973", + "label": "Methemoglobinemia, Alpha type" + } + } + ], + "metaData": { + "created": "2024-06-11T17:59:56.748785Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Methemoglobinemia_Beta_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Methemoglobinemia_Beta_type_patient_1.json new file mode 100644 index 000000000..305b99652 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Methemoglobinemia_Beta_type_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "methemoglobinemia,_beta_type", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012119", + "label": "Methemoglobinemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617971", + "label": "Methemoglobinemia, Beta type" + } + } + ], + "metaData": { + "created": "2024-06-11T18:14:56.339582Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Methemoglobinemia_and_ambiguous_genitalia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Methemoglobinemia_and_ambiguous_genitalia_patient_1.json new file mode 100644 index 000000000..4e858edab --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Methemoglobinemia_and_ambiguous_genitalia_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "methemoglobinemia_and_ambiguous_genitalia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012853", + "label": "Scrotal hypospadias" + } + }, + { + "type": { + "id": "HP:0000048", + "label": "Bifid scrotum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:250790", + "label": "Methemoglobinemia and ambiguous genitalia" + } + } + ], + "metaData": { + "created": "2024-06-12T02:19:17.563797Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Methemoglobinemia_due_to_deficiency_of_methemoglobin_reductase_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Methemoglobinemia_due_to_deficiency_of_methemoglobin_reductase_patient_1.json new file mode 100644 index 000000000..7f916a675 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Methemoglobinemia_due_to_deficiency_of_methemoglobin_reductase_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "methemoglobinemia_due_to_deficiency_of_methemoglobin_reductase", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000961", + "label": "Cyanosis" + } + }, + { + "type": { + "id": "HP:0012119", + "label": "Methemoglobinemia" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0020045", + "label": "Esodeviation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:250800", + "label": "Methemoglobinemia due to deficiency of methemoglobin reductase" + } + } + ], + "metaData": { + "created": "2024-06-12T02:17:21.642222Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Methionine_adenosyltransferase_I_III_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Methionine_adenosyltransferase_I_III_deficiency_patient_1.json new file mode 100644 index 000000000..bf38fa188 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Methionine_adenosyltransferase_I_III_deficiency_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "methionine_adenosyltransferase_i/iii_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0010901", + "label": "Abnormal circulating methionine concentration" + } + }, + { + "type": { + "id": "HP:0032142", + "label": "Fetor hepaticus" + } + }, + { + "type": { + "id": "HP:0007162", + "label": "Diffuse demyelination of the cerebral white matter" + } 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file mode 100644 index 000000000..e41accfbe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Methionine_malabsorption_syndrome_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "methionine_malabsorption_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011364", + "label": "White hair" + } + }, + { + "type": { + "id": "HP:0003355", + "label": "Aminoaciduria" + } + }, + { + "type": { + "id": "HP:0002342", + "label": "Intellectual disability, moderate" + } + }, + { + "type": { + "id": "HP:0010893", + "label": "Abnormal circulating phenylalanine concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:250900", + "label": "Methionine malabsorption syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:11:36.532192Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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100644 index 000000000..071f1b276 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_14_primary_autosomal_recessive_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "microcephaly_14,_primary,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616402", + "label": "Microcephaly 14, primary, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T20:06:29.480929Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + 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+ } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + }, + { + "type": { + "id": "HP:0001181", + "label": "Adducted thumb" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616681", + "label": "Microcephaly 16, primary, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T23:18:46.870941Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_17_primary_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_17_primary_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..07d4dbc8f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_17_primary_autosomal_recessive_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "microcephaly_17,_primary,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + }, + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0012434", + "label": "Delayed early-childhood social milestone development" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0000400", + "label": "Macrotia" + } + }, + { + "type": { + "id": "HP:0002194", + "label": "Delayed gross motor development" + } + }, + { + "type": { + "id": "HP:0012471", + "label": "Thick vermilion border" + } + }, + { + "type": { + "id": "HP:0010862", + "label": "Delayed fine motor development" + } + }, + { + "type": { + "id": "HP:0000340", + "label": "Sloping forehead" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0009879", + "label": "Simplified gyral pattern" + } + }, + { + "type": { + "id": "HP:0001276", + "label": "Hypertonia" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617090", + "label": "Microcephaly 17, primary, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T19:55:31.035940Z", + "createdBy": "phenotype2phenopacket", 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"microcephaly_18,_primary,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617520", + "label": "Microcephaly 18, primary, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T19:32:52.033349Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_19_primary_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_19_primary_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..3a10da3a5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_19_primary_autosomal_recessive_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "microcephaly_19,_primary,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002079", + "label": "Hypoplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0009879", + "label": "Simplified gyral pattern" + } + }, + { + "type": { + "id": "HP:0012510", + "label": "Extra-axial cerebrospinal fluid accumulation" + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + }, + { 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+} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_20_primary_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_20_primary_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..1ee0ec5d8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_20_primary_autosomal_recessive_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "microcephaly_20,_primary,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000013", + "label": "Hypoplasia of the uterus" + } + }, + { + "type": { + "id": "HP:0000618", + "label": "Blindness" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_21_primary_autosomal_recessive_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "microcephaly_21,_primary,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0001518", + "label": "Small for gestational age" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617983", + "label": "Microcephaly 21, primary, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T23:46:42.658177Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_22_primary_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_22_primary_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..bdb52ab2e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_22_primary_autosomal_recessive_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "microcephaly_22,_primary,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0001518", + "label": "Small for gestational age" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_23_primary_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..fe4bef889 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_23_primary_autosomal_recessive_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "microcephaly_23,_primary,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000340", + "label": "Sloping forehead" + } + }, + { + "type": { + "id": "HP:0002342", + "label": "Intellectual disability, moderate" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617985", + "label": "Microcephaly 23, primary, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T23:00:10.293304Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_25_primary_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..c10868c98 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_25_primary_autosomal_recessive_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "microcephaly_25,_primary,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002079", + "label": "Hypoplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618351", + "label": "Microcephaly 25, primary, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T22:08:06.535138Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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+ }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031936", + "label": "Delayed ability to walk" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0100704", + "label": "Cerebral visual impairment" + } + }, + { + "type": { + "id": "HP:0001655", + "label": "Patent foramen ovale" + } + }, + { + "type": { + "id": "HP:0000426", + "label": "Prominent nasal bridge" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + } + }, + { + "type": { + "id": "HP:0011342", + "label": "Mild global developmental delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619179", + "label": "Microcephaly 26, primary, autosomal dominant" + } + } + ], + "metaData": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_27_primary_autosomal_dominant_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "microcephaly_27,_primary,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000054", + "label": "Micropenis" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0009381", + "label": "Short finger" + } + }, + { + "type": { + "id": "HP:0030043", + "label": "Hip subluxation" + } + }, + { + "type": { + "id": "HP:0031936", + "label": "Delayed ability to walk" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619180", + "label": "Microcephaly 27, primary, autosomal dominant" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_28_primary_autosomal_recessive_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "microcephaly_28,_primary,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ], + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619453", + "label": "Microcephaly 28, primary, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T20:12:07.390922Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", 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000000000..f7786894a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_3_primary_autosomal_recessive_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "microcephaly_3,_primary,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000410", + "label": "Mixed hearing impairment" + } + }, + { + "type": { + "id": "HP:0009879", + "label": "Simplified gyral pattern" + } + }, + { + "type": { + "id": "HP:0001338", + "label": "Partial agenesis of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0000340", + "label": "Sloping forehead" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000586", + "label": "Shallow orbits" + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + }, + { + "type": { + "id": "HP:0000448", + "label": "Prominent nose" + } + }, + { + "type": { + "id": "HP:0001249", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_4_primary_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..cc599db99 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_4_primary_autosomal_recessive_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "microcephaly_4,_primary,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000574", + "label": "Thick eyebrow" + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0009765", + "label": "Low hanging columella" + } + }, + { + "type": { + "id": "HP:0006887", + "label": "Intellectual disability, progressive" + } + }, + { + "type": { + "id": "HP:0011362", + "label": "Abnormal hair quantity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604321", + "label": "Microcephaly 4, primary, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T23:56:50.863115Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_5_primary_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_5_primary_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..946a3e6d5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_5_primary_autosomal_recessive_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "microcephaly_5,_primary,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002472", + "label": "Small cerebral cortex" + } + }, + { + "type": { + "id": "HP:0000341", + "label": "Narrow forehead" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001274", + "label": "Agenesis of corpus callosum" + } + }, + { + "type": { + "id": "HP:0002079", + "label": "Hypoplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0002539", + "label": "Cortical dysplasia" + } + }, + { + "type": { + "id": "HP:0000520", + "label": "Proptosis" + } 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_7_primary_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..478ef510a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_7_primary_autosomal_recessive_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "microcephaly_7,_primary,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + }, + { + "type": { + "id": "HP:0002536", + "label": "Abnormal cortical gyration" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612703", + "label": "Microcephaly 7, primary, autosomal recessive" + } + } + ], + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_8_primary_autosomal_recessive_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "microcephaly_8,_primary,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + }, + { + "type": { + "id": "HP:0030791", + "label": "Abnormal jaw morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614673", + "label": "Microcephaly 8, primary, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T18:08:54.866245Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + 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{ + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614852", + "label": "Microcephaly 9, primary, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T18:57:57.353705Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_Amish_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_Amish_type_patient_1.json new file mode 100644 index 000000000..e08d5b1c6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_Amish_type_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "microcephaly,_amish_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007750", + "label": "Hypoplasia of the fovea" + } + }, + { + "type": { + "id": "HP:0002033", + "label": "Poor suck" + } + }, + { + "type": { + "id": "HP:0000237", + "label": "Small anterior fontanelle" + } + }, + { + "type": { + "id": "HP:0004305", + "label": "Involuntary movements" + } + }, + { + "type": { + "id": "HP:0001317", + "label": "Abnormal cerebellum morphology" + } + }, + { + "type": { + "id": "HP:0009062", + "label": "Infantile axial hypotonia" + } + }, + { + "type": { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_Capillary_malformation_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_Capillary_malformation_syndrome_patient_1.json new file mode 100644 index 000000000..31eb8c72b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_Capillary_malformation_syndrome_patient_1.json @@ -0,0 +1,206 @@ +{ + "id": "microcephaly-capillary_malformation_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012469", + "label": "Infantile spasms" + } + }, + { + "type": { + "id": "HP:0001285", + "label": "Spastic tetraparesis" + } + }, + { + "type": { + "id": "HP:0025517", + "label": "Hypoplastic hippocampus" + } + }, + { + "type": { + "id": "HP:0025104", + "label": "Capillary malformation" + } + }, + { + "type": { + "id": "HP:0009882", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_albinism_digital_anomalies_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "microcephaly_-_albinism_-_digital_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001022", + "label": "Albinism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:203340", + "label": "Microcephaly - albinism - digital anomalies" + } + } + ], + "metaData": { + "created": "2024-06-11T22:35:02.316352Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_and_chorioretinopathy_autosomal_recessive_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_and_chorioretinopathy_autosomal_recessive_1_patient_1.json new file mode 100644 index 000000000..d4c8f2896 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_and_chorioretinopathy_autosomal_recessive_1_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "microcephaly_and_chorioretinopathy,_autosomal_recessive,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000543", + "label": "Optic disc pallor" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_and_chorioretinopathy_autosomal_recessive_2_patient_1.json new file mode 100644 index 000000000..4d84cb3ec --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_and_chorioretinopathy_autosomal_recessive_2_patient_1.json @@ -0,0 +1,147 @@ +{ + "id": "microcephaly_and_chorioretinopathy,_autosomal_recessive,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + }, + { + "type": { + "id": "HP:0000482", + "label": "Microcornea" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0001272", + "label": "Cerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + } + }, + { + "type": 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"label": "Microcephaly and chorioretinopathy, autosomal recessive, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:37:08.945527Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_and_chorioretinopathy_autosomal_recessive_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_and_chorioretinopathy_autosomal_recessive_3_patient_1.json new file mode 100644 index 000000000..d65d2d945 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_and_chorioretinopathy_autosomal_recessive_3_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "microcephaly_and_chorioretinopathy,_autosomal_recessive,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616335", + "label": "Microcephaly and chorioretinopathy, autosomal recessive, 3" + } + } + ], + "metaData": { + "created": "2024-06-12T00:50:21.956966Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_growth_deficiency_seizures_and_brain_malformations_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_growth_deficiency_seizures_and_brain_malformations_patient_1.json new file mode 100644 index 000000000..91e8e2929 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_growth_deficiency_seizures_and_brain_malformations_patient_1.json @@ -0,0 +1,74 @@ +{ + "id": "microcephaly,_growth_deficiency,_seizures,_and_brain_malformations", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0010804", + "label": "Tented upper lip vermilion" + } + }, + { + "type": { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_growth_restriction_and_increased_sister_chromatid_exchange_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_growth_restriction_and_increased_sister_chromatid_exchange_2_patient_1.json new file mode 100644 index 000000000..7537267d7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_growth_restriction_and_increased_sister_chromatid_exchange_2_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "microcephaly,_growth_restriction,_and_increased_sister_chromatid_exchange_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000957", + "label": "Cafe-au-lait spot" + } + }, + { + "type": { + "id": "HP:0009141", + "label": "Depletion of mitochondrial DNA in muscle tissue" + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + }, + { + "type": { + "id": "HP:0004485", + "label": "Cessation of 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_micromelia_syndrome_patient_1.json new file mode 100644 index 000000000..68d5b9dfb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_micromelia_syndrome_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "microcephaly-micromelia_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003041", + "label": "Humeroradial synostosis" + } + }, + { + "type": { + "id": "HP:0003974", + "label": "Absent radius" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + }, + "onset": { + "ontologyClass": { + "id": "HP:0030674", + "label": "Antenatal onset" + } + } + }, + { + "type": { + "id": "HP:0002983", + "label": "Micromelia" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0006849", + "label": "Hypodysplasia of the corpus callosum" + } + }, + { + "type": { + "id": 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_postnatal_progressive_with_seizures_and_brain_atrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_postnatal_progressive_with_seizures_and_brain_atrophy_patient_1.json new file mode 100644 index 000000000..a0c9f2d38 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_postnatal_progressive_with_seizures_and_brain_atrophy_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "microcephaly,_postnatal_progressive,_with_seizures_and_brain_atrophy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002188", + "label": "Delayed CNS myelination" + } + }, + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0002506", + "label": "Diffuse cerebral atrophy" + }, + "modifiers": [ + { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_primary_autosomal_recessive_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_primary_autosomal_recessive_6_patient_1.json new file mode 100644 index 000000000..fbd152c0d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_primary_autosomal_recessive_6_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "microcephaly,_primary_autosomal_recessive,_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002342", + "label": "Intellectual disability, moderate" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0002472", + "label": "Small cerebral cortex" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_progressive_with_seizures_and_cerebral_and_cerebellar_atrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_progressive_with_seizures_and_cerebral_and_cerebellar_atrophy_patient_1.json new file mode 100644 index 000000000..0cb8665da --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_progressive_with_seizures_and_cerebral_and_cerebellar_atrophy_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "microcephaly,_progressive,_with_seizures_and_cerebral_and_cerebellar_atrophy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0000601", + "label": "Hypotelorism" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": 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+++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_short_stature_and_limb_abnormalities_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "microcephaly,_short_stature,_and_limb_abnormalities", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0004485", + "label": "Cessation of head growth" + } + }, + { + "type": { + "id": "HP:0000921", + "label": "Missing ribs" + } + }, + { + "type": { + "id": "HP:0008848", + "label": "Moderately short stature" + } + }, + { + "type": { + "id": "HP:0002750", + "label": "Delayed skeletal maturation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617604", + "label": "Microcephaly, short stature, and limb abnormalities" + } + } + ], + "metaData": { + "created": "2024-06-12T02:19:30.873879Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcephaly_with_cervical_spine_fusion_anomalies_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "microcephaly_with_cervical_spine_fusion_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002011", + "label": "Morphological central nervous system abnormality" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:251250", + "label": "Microcephaly with cervical spine fusion anomalies" + } + } + ], + "metaData": { + "created": "2024-06-11T18:23:17.174341Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcoria_congenital_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcoria_congenital_patient_1.json new file mode 100644 index 000000000..d56550878 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcoria_congenital_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "microcoria,_congenital", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007906", + "label": "Ocular hypertension" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:156600", + "label": "Microcoria, congenital" + } + } + ], + "metaData": { + "created": "2024-06-11T23:56:11.923726Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + 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"label": "Microcornea, glaucoma, and absent frontal sinuses" + } + } + ], + "metaData": { + "created": "2024-06-11T21:59:41.976987Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcornea_myopic_chorioretinal_atrophy_and_telecanthus_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcornea_myopic_chorioretinal_atrophy_and_telecanthus_patient_1.json new file mode 100644 index 000000000..ba11ce7ed --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcornea_myopic_chorioretinal_atrophy_and_telecanthus_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "microcornea,_myopic_chorioretinal_atrophy,_and_telecanthus", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000455", + "label": "Broad nasal tip" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615458", + "label": "Microcornea, myopic chorioretinal atrophy, and telecanthus" + } + } + ], + "metaData": { + "created": "2024-06-11T21:12:05.119296Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcornea_rod_cone_dystrophy_cataract_and_posterior_staphyloma_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcornea_rod_cone_dystrophy_cataract_and_posterior_staphyloma_1_patient_1.json new file mode 100644 index 000000000..70b7e043c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microcornea_rod_cone_dystrophy_cataract_and_posterior_staphyloma_1_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "microcornea,_rod-cone_dystrophy,_cataract,_and_posterior_staphyloma_1", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P12Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619082", + "label": "Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:31:34.380687Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Micromelic_bone_dysplasia_with_cloverleaf_skull_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Micromelic_bone_dysplasia_with_cloverleaf_skull_patient_1.json new file mode 100644 index 000000000..bc4803cdc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Micromelic_bone_dysplasia_with_cloverleaf_skull_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "micromelic_bone_dysplasia_with_cloverleaf_skull", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002676", + "label": "Cloverleaf skull" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:156830", + "label": "Micromelic bone dysplasia with cloverleaf skull" + } + } + ], + "metaData": { + "created": "2024-06-11T23:31:57.418867Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_coloboma_and_skeletal_dysplasia_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_coloboma_and_skeletal_dysplasia_syndrome_patient_1.json new file mode 100644 index 000000000..1b8d71833 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_coloboma_and_skeletal_dysplasia_syndrome_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "microphthalmia/coloboma_and_skeletal_dysplasia_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0000567", + "label": "Chorioretinal coloboma" + } + }, + { + "type": { + "id": "HP:0000629", + "label": "Periorbital fullness" + } + }, + { + "type": { + "id": "HP:0030691", + "label": "Divergence nystagmus" + } + }, + { + "type": { + "id": "HP:0000615", + "label": "Abnormal pupil morphology" + } + }, + { + "type": { + "id": "HP:0000528", + "label": "Anophthalmia" + } + }, + { + "type": { + "id": "HP:0004691", + "label": "2-3 toe syndactyly" + } + }, + { + "type": { + "id": "HP:0000492", + "label": "Abnormal eyelid morphology" + } + }, + { + "type": { + "id": "HP:0000517", + "label": "Abnormal lens morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615877", + "label": "Microphthalmia/coloboma and skeletal dysplasia syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:55:14.565400Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_1_patient_1.json new file mode 100644 index 000000000..a523fbe6b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_1_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "microphthalmia,_isolated_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0500042", + "label": "Latent hypermetropia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:251600", + "label": "Microphthalmia, isolated 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:04:35.071166Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_2_patient_1.json new file mode 100644 index 000000000..efef35771 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "microphthalmia,_isolated_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610093", + "label": "Microphthalmia, isolated 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:10:24.235031Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_3_patient_1.json new file mode 100644 index 000000000..eaa3d2189 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "microphthalmia,_isolated_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + } + }, + { + "type": { + "id": "HP:0009755", + "label": "Ankyloblepharon" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611038", + "label": "Microphthalmia, isolated 3" + } + } + ], + "metaData": { + "created": "2024-06-11T21:02:35.562944Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_4_patient_1.json new file mode 100644 index 000000000..e1af5b9b1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "microphthalmia,_isolated_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010469", + "label": "Absent testis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613094", + "label": "Microphthalmia, isolated 4" + } + } + ], + "metaData": { + "created": "2024-06-11T17:55:06.553044Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_5_patient_1.json new file mode 100644 index 000000000..f8798feac --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_5_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "microphthalmia,_isolated_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0500087", + "label": "Peripapillary atrophy" + } + }, + { + "type": { + "id": "HP:0012373", + "label": "Abnormal eye physiology" + } + }, + { + "type": { + "id": "HP:0011480", + "label": "Unilateral microphthalmos" + } + }, + { + "type": { + "id": "HP:0500042", + "label": "Latent hypermetropia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611040", + "label": "Microphthalmia, isolated 5" + } + } + ], + "metaData": { + "created": "2024-06-11T18:32:46.922545Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_6_patient_1.json new file mode 100644 index 000000000..b0ae3567a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_6_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "microphthalmia,_isolated_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008499", + "label": "High hypermetropia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613517", + "label": "Microphthalmia, isolated 6" + } + } + ], + "metaData": { + "created": "2024-06-12T00:31:53.350366Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_7_patient_1.json new file mode 100644 index 000000000..7e3e89c41 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_7_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "microphthalmia,_isolated_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613704", + "label": "Microphthalmia, isolated 7" + } + } + ], + "metaData": { + "created": "2024-06-11T22:51:37.383471Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_8_patient_1.json new file mode 100644 index 000000000..b047d5cb7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_8_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "microphthalmia,_isolated_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000528", + "label": "Anophthalmia" + } + }, + { + "type": { + "id": "HP:0031737", + "label": "Cicatricial entropion" + } + }, + { + "type": { + "id": "HP:0004329", + "label": "Abnormal posterior eye segment morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615113", + "label": "Microphthalmia, isolated 8" + } + } + ], + "metaData": { + "created": "2024-06-11T22:08:20.936045Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_cataract_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_cataract_1_patient_1.json new file mode 100644 index 000000000..0a54079ba --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_cataract_1_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "microphthalmia,_isolated,_with_cataract_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + } + }, + { + "type": { + "id": "HP:0025584", + "label": "Hypotropia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:156850", + "label": "Microphthalmia, isolated, with cataract 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:19:03.807277Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_coloboma_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_coloboma_10_patient_1.json new file mode 100644 index 000000000..121c7381e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_coloboma_10_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "microphthalmia,_isolated,_with_coloboma_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000528", + "label": "Anophthalmia" + } + }, + { + "type": { + "id": "HP:0000612", + "label": "Iris coloboma" + } + }, + { + "type": { + "id": "HP:0034567", + "label": "Optic pit" + } + }, + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616428", + "label": "Microphthalmia, isolated, with coloboma 10" + } + } + ], + "metaData": { + "created": "2024-06-11T19:30:26.790069Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_coloboma_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_coloboma_4_patient_1.json new file mode 100644 index 000000000..e6c0f4cff --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_coloboma_4_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "microphthalmia,_isolated,_with_coloboma_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000588", + "label": "Optic disc coloboma" + } + }, + { + "type": { + "id": "HP:0000482", + "label": "Microcornea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:251505", + "label": "Microphthalmia, isolated, with coloboma 4" + } + } + ], + "metaData": { + "created": "2024-06-12T02:16:16.518493Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_coloboma_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_coloboma_5_patient_1.json new file mode 100644 index 000000000..46b2d9cc8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_coloboma_5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "microphthalmia,_isolated,_with_coloboma_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000567", + "label": "Chorioretinal coloboma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611638", + "label": "Microphthalmia, isolated, with coloboma 5" + } + } + ], + "metaData": { + "created": "2024-06-11T22:00:19.413286Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_coloboma_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_coloboma_6_patient_1.json new file mode 100644 index 000000000..38eb3b35a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_coloboma_6_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "microphthalmia,_isolated,_with_coloboma_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007766", + "label": "Optic disc hypoplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613703", + "label": "Microphthalmia, isolated, with coloboma 6" + } + } + ], + "metaData": { + "created": "2024-06-11T23:44:03.926120Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_coloboma_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_coloboma_7_patient_1.json new file mode 100644 index 000000000..e52620b68 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_coloboma_7_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "microphthalmia,_isolated,_with_coloboma_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031613", + "label": "Inferior chorioretinal coloboma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614497", + "label": "Microphthalmia, isolated, with coloboma 7" + } + } + ], + "metaData": { + "created": "2024-06-11T23:49:18.189620Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_coloboma_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_coloboma_9_patient_1.json new file mode 100644 index 000000000..708a12b1d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_coloboma_9_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "microphthalmia,_isolated,_with_coloboma_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0045025", + "label": "Narrow palpebral fissure" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0007700", + "label": "Ocular anterior segment dysgenesis" + } + }, + { + "type": { + "id": "HP:0000612", + "label": "Iris coloboma" + } + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0000541", + "label": "Retinal detachment" + } + }, + { + "type": { + "id": "HP:0000400", + "label": "Macrotia" + } + }, + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615145", + "label": "Microphthalmia, isolated, with coloboma 9" + } + } + ], + "metaData": { + "created": "2024-06-11T18:50:25.971842Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_corectopia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_corectopia_patient_1.json new file mode 100644 index 000000000..4a72a0940 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_isolated_with_corectopia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "microphthalmia,_isolated,_with_corectopia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009918", + "label": "Ectopia pupillae" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:156900", + "label": "Microphthalmia, isolated, with corectopia" + } + } + ], + "metaData": { + "created": "2024-06-11T19:34:05.368450Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_syndromic_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_syndromic_11_patient_1.json new file mode 100644 index 000000000..72efa017a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_syndromic_11_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "microphthalmia,_syndromic_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012687", + "label": "Agenesis of pineal gland" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + }, + "modifiers": [ + { + "id": "HP:0012832", + "label": "Bilateral" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614402", + "label": "Microphthalmia, syndromic 11" + } + } + ], + "metaData": { + "created": "2024-06-11T20:35:38.203759Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_syndromic_12_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_syndromic_12_patient_1.json new file mode 100644 index 000000000..ef911e43a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_syndromic_12_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "microphthalmia,_syndromic_12", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0002089", + "label": "Pulmonary hypoplasia" + } + }, + { + "type": { + "id": "HP:0000528", + "label": "Anophthalmia" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0100790", + "label": "Hernia" + } + }, + { + "type": { + "id": "HP:0000813", + "label": "Bicornuate uterus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615524", + "label": "Microphthalmia, syndromic 12" + } + } + ], + "metaData": { + "created": "2024-06-11T19:44:35.420255Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_syndromic_13_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_syndromic_13_patient_1.json new file mode 100644 index 000000000..e5bb3f1ca --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_syndromic_13_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "microphthalmia,_syndromic_13", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000567", + "label": "Chorioretinal coloboma" + } + }, + { + "type": { + "id": "HP:0040080", + "label": "Anteverted ears" + } + }, + { + "type": { + "id": "HP:0002751", + "label": "Kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0001566", + "label": "Widely-spaced maxillary central incisors" + } + }, + { + "type": { + "id": "HP:0012373", + "label": "Abnormal eye physiology" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0007811", + "label": "Horizontal pendular nystagmus" + } + }, + { + "type": { + "id": "HP:0000612", + "label": "Iris coloboma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300915", + "label": "Microphthalmia, syndromic 13" + } + } + ], + "metaData": { + "created": "2024-06-11T20:06:23.853538Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_syndromic_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_syndromic_1_patient_1.json new file mode 100644 index 000000000..7bd6bbbb9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_syndromic_1_patient_1.json @@ -0,0 +1,225 @@ +{ + "id": "microphthalmia,_syndromic_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000465", + "label": "Webbed neck" + } + }, + { + "type": { + "id": "HP:0000767", + "label": "Pectus excavatum" + } + }, + { + "type": { + "id": "HP:0000774", + "label": "Narrow chest" + } + }, + { + "type": { + "id": "HP:0001159", + "label": "Syndactyly" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0002938", + "label": "Lumbar hyperlordosis" + } + }, + { + "type": { + "id": "HP:0001212", + "label": "Prominent 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+ "label": "Presenile cataracts" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000612", + "label": "Iris coloboma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610092", + "label": "Microphthalmia with coloboma 3" + } + } + ], + "metaData": { + "created": "2024-06-11T21:17:56.905376Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_with_cyst_bilateral_facial_clefts_and_limb_anomalies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_with_cyst_bilateral_facial_clefts_and_limb_anomalies_patient_1.json new file mode 100644 index 000000000..57e4e481a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_with_cyst_bilateral_facial_clefts_and_limb_anomalies_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "microphthalmia_with_cyst,_bilateral_facial_clefts,_and_limb_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000506", + "label": "Telecanthus" + } + }, + { + "type": { + "id": "HP:0000244", + "label": "Brachyturricephaly" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + }, + { + "type": { + "id": "HP:0007481", + "label": "Hyperpigmented nevi" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0007633", + "label": "Bilateral microphthalmos" + } + }, + { + "type": { + "id": "HP:0031579", + "label": "Tessier number 7 facial cleft" + } + }, + { + "type": { + "id": "HP:0000457", + "label": "Depressed nasal ridge" + } + }, + { + "type": { + "id": "HP:0000357", + "label": "Abnormal location of ears" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607597", + "label": "Microphthalmia with cyst, bilateral facial clefts, and limb anomalies" + } + } + ], + "metaData": { + "created": "2024-06-11T18:40:07.925867Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_with_hyperopia_retinal_degeneration_macrophakia_and_dental_anomalies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_with_hyperopia_retinal_degeneration_macrophakia_and_dental_anomalies_patient_1.json new file mode 100644 index 000000000..af88e6fec --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_with_hyperopia_retinal_degeneration_macrophakia_and_dental_anomalies_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "microphthalmia_with_hyperopia,_retinal_degeneration,_macrophakia,and_dental_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0500042", + "label": "Latent hypermetropia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:251700", + "label": "Microphthalmia with hyperopia, retinal degeneration, macrophakia,and dental anomalies" + } + } + ], + "metaData": { + "created": "2024-06-11T23:17:42.565318Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_with_limb_anomalies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_with_limb_anomalies_patient_1.json new file mode 100644 index 000000000..f543fc933 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microphthalmia_with_limb_anomalies_patient_1.json @@ -0,0 +1,225 @@ +{ + "id": "microphthalmia_with_limb_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001849", + "label": "Foot oligodactyly" + } + }, + { + "type": { + "id": "HP:0012741", + "label": "Unilateral cryptorchidism" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0001215", + "label": "Camptodactyly of 2nd-5th fingers" + } + }, + { + "type": { + "id": "HP:0000528", + "label": "Anophthalmia" + } + }, + { + "type": { + "id": "HP:0010715", + "label": "2-5 toe syndactyly" + } + }, + { + "type": { + "id": "HP:0000960", + "label": "Sacral dimple" + } + }, + { + "type": { + "id": "HP:0001241", + "label": "Capitate-hamate fusion" + } + }, + { + "type": { + "id": "HP:0001162", + "label": "Postaxial hand polydactyly" + } + }, + { + "type": { + "id": "HP:0005709", + "label": "2-3 toe cutaneous syndactyly" + } + }, + { + "type": { + "id": "HP:0000278", + "label": "Retrognathia" + } + }, + { + "type": { + "id": "HP:0001852", + "label": "Sandal gap" + } + }, + { + "type": { + "id": "HP:0003038", + "label": "Fibular hypoplasia" + } + }, + { + "type": { + "id": "HP:0001440", + "label": "Metatarsal synostosis" + } + }, + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0005867", + "label": "4-5 metacarpal synostosis" + } + }, + { + "type": { + "id": "HP:0002982", + "label": "Tibial bowing" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0008081", + "label": "Pes valgus" + } + }, + { + "type": { + "id": "HP:0003196", + "label": "Short nose" + } + }, + { + "type": { + "id": "HP:0001830", + "label": "Postaxial foot polydactyly" + } + }, + { + "type": { + "id": "HP:0000581", + "label": "Blepharophimosis" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0000954", + "label": "Single transverse palmar crease" + } + }, + { + "type": { + "id": "HP:0001159", + "label": "Syndactyly" + } + }, + { + "type": { + "id": "HP:0005345", + "label": "Abnormal vena cava morphology" + } + }, + { + "type": { + "id": "HP:0001384", + "label": "Abnormal hip joint morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:206920", + "label": "Microphthalmia with limb anomalies" + } + } + ], + "metaData": { + "created": "2024-06-11T22:41:49.596506Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma_patient_1.json new file mode 100644 index 000000000..e83265ece --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microspherophakia_and_or_megalocornea_with_ectopia_lentis_and_with_or_without_secondary_glaucoma_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "microspherophakia_and/or_megalocornea,_with_ectopia_lentis_and_with_or_without_secondary_glaucoma", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0034375", + "label": "Spherophakia" + } + }, + { + "type": { + "id": "HP:0002705", + "label": "High, narrow palate" + } + }, + { + "type": { + "id": "HP:0012019", + "label": "Lens luxation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:251750", + "label": "Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma" + } + } + ], + "metaData": { + "created": "2024-06-11T20:50:26.278688Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microtia_anotia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microtia_anotia_patient_1.json new file mode 100644 index 000000000..42ae299cf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microtia_anotia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "microtia-anotia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009892", + "label": "Anotia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600674", + "label": "Microtia-anotia" + } + } + ], + "metaData": { + "created": "2024-06-11T20:15:14.948187Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microtia_eye_coloboma_imperforation_of_the_nasolacrimal_duct_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microtia_eye_coloboma_imperforation_of_the_nasolacrimal_duct_patient_1.json new file mode 100644 index 000000000..1deab785c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microtia_eye_coloboma_imperforation_of_the_nasolacrimal_duct_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "microtia_-_eye_coloboma_-_imperforation_of_the_nasolacrimal_duct", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008551", + "label": "Microtia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611863", + "label": "Microtia - eye coloboma - imperforation of the nasolacrimal duct" + } + } + ], + "metaData": { + "created": "2024-06-11T19:10:54.752314Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microtia_hearing_impairment_and_cleft_palate_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microtia_hearing_impairment_and_cleft_palate_patient_1.json new file mode 100644 index 000000000..6c8aa36df --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microtia_hearing_impairment_and_cleft_palate_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "microtia,_hearing_impairment,_and_cleft_palate", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000396", + "label": "Overfolded helix" + } + }, + { + "type": { + "id": "HP:0008551", + "label": "Microtia" + } + }, + { + "type": { + "id": "HP:0000410", + "label": "Mixed hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612290", + "label": "Microtia, hearing impairment, and cleft palate" + } + } + ], + "metaData": { + "created": "2024-06-11T22:37:49.940062Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Microtia_with_meatal_atresia_and_conductive_deafness_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microtia_with_meatal_atresia_and_conductive_deafness_patient_1.json new file mode 100644 index 000000000..bd4207ff6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Microtia_with_meatal_atresia_and_conductive_deafness_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "microtia_with_meatal_atresia_and_conductive_deafness", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000154", + "label": "Wide mouth" + } + }, + { + "type": { + "id": "HP:0000405", + "label": "Conductive hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:251800", + "label": "Microtia with meatal atresia and conductive deafness" + } + } + ], + "metaData": { + "created": "2024-06-11T20:14:20.424819Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Midface_hypoplasia_hearing_impairment_elliptocytosis_and_nephrocalcinosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Midface_hypoplasia_hearing_impairment_elliptocytosis_and_nephrocalcinosis_patient_1.json new file mode 100644 index 000000000..dcf97335a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Midface_hypoplasia_hearing_impairment_elliptocytosis_and_nephrocalcinosis_patient_1.json @@ -0,0 +1,249 @@ +{ + "id": "midface_hypoplasia,_hearing_impairment,_elliptocytosis,_and_nephrocalcinosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0000396", + "label": "Overfolded helix" + } + }, + { + "type": { + "id": "HP:0000160", + "label": "Narrow mouth" + } + }, + { + "type": { + "id": "HP:0000176", + "label": "Submucous cleft hard palate" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0001643", + "label": "Patent ductus arteriosus" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + 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--git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Midface_hypoplasia_obesity_developmental_delay_and_neonatal_hypotonia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Midface_hypoplasia_obesity_developmental_delay_and_neonatal_hypotonia_patient_1.json new file mode 100644 index 000000000..2638b72dc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Midface_hypoplasia_obesity_developmental_delay_and_neonatal_hypotonia_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "midface_hypoplasia,_obesity,_developmental_delay,_and_neonatal_hypotonia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002750", + "label": "Delayed skeletal maturation" + } + }, + { + "type": { + "id": "HP:0001319", + "label": "Neonatal hypotonia" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Migraine_familial_typical_susceptibility_to_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "migraine,_familial_typical,_susceptibility_to,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002077", + "label": "Migraine with aura" + } + }, + { + "type": { + "id": "HP:0002083", + "label": "Migraine without aura" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300125", + "label": "Migraine, familial typical, susceptibility to, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:35:11.600346Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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100644 index 000000000..29ff1f68e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Migraine_with_or_without_aura_susceptibility_to_11_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "migraine_with_or_without_aura,_susceptibility_to,_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002083", + "label": "Migraine without aura" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610209", + "label": "Migraine with or without aura, susceptibility to, 11" + } + } + ], + "metaData": { + "created": "2024-06-12T01:59:30.108354Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Migraine_with_or_without_aura_susceptibility_to_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Migraine_with_or_without_aura_susceptibility_to_6_patient_1.json new file mode 100644 index 000000000..67eab2d67 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Migraine_with_or_without_aura_susceptibility_to_6_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "migraine_with_or_without_aura,_susceptibility_to,_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002183", + "label": "Phonophobia" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607516", + "label": "Migraine with or without aura, susceptibility to, 6" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Migraine_without_aura_susceptibility_to_4_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "migraine_without_aura,_susceptibility_to,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002013", + "label": "Vomiting" + } + }, + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607501", + "label": "Migraine without aura, susceptibility to, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T22:23:03.970216Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mitchell_Riley_syndrome_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "mitchell-riley_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0011998", + "label": "Postprandial hyperglycemia" + } + }, + { + "type": { + "id": "HP:0004794", + "label": "Malrotation of small bowel" + } + }, + { + "type": { + "id": "HP:0001396", + "label": "Cholestasis" + } + }, + { + "type": { + "id": "HP:0004904", + "label": "Maturity-onset diabetes of the young" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615710", + "label": "Mitchell-Riley syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:46:10.059484Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mitochondrial_myopathy_with_lactic_acidosis_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "mitochondrial_myopathy_with_lactic_acidosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003128", + "label": "Lactic acidosis" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0012446", + "label": "Decreased CSF 5-methyltetrahydrofolate concentration" + } + }, + { + "type": { + "id": "HP:0003542", + "label": "Increased serum pyruvate" + } + }, + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0020035", + "label": "Lower limb dysmetria" + } + }, + { + "type": { + "id": "HP:0007359", + "label": "Focal-onset seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:251950", + "label": "Mitochondrial myopathy with lactic acidosis" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mitochondrial_phosphate_carrier_deficiency_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "mitochondrial_phosphate_carrier_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001637", + "label": "Abnormal myocardium morphology" + } + }, + { + "type": { + "id": "HP:0008322", + "label": "Abnormal mitochondrial morphology" + } + }, + { + "type": { + "id": "HP:0004897", + "label": "Stress/infection-induced lactic acidosis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610773", + "label": "Mitochondrial phosphate carrier deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T18:48:51.556891Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mitochondrial_trifunctional_protein_deficiency_2_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "mitochondrial_trifunctional_protein_deficiency_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001943", + "label": "Hypoglycemia" + } + }, + { + "type": { + "id": "HP:0031185", + "label": "Increased circulating NT-proBNP concentration" + } + }, + { + "type": { + "id": "HP:0034376", + "label": "Atrioventricular valve regurgitation" + } + }, + { + "type": { + "id": "HP:0031650", + "label": "Abnormal atrioventricular valve physiology" + } + }, + { + "type": { + "id": "HP:0001638", + "label": "Cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0011150", + "label": "Myoclonic absence seizure" + } + }, + { + "type": { + "id": "HP:0430135", + "label": "Abnormal circulating hepatic transaminase concentration" + } + }, + { + "type": { + "id": "HP:0025142", + "label": "Constitutional symptom" + } + 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--git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mitral_valve_prolapse_myxomatous_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mitral_valve_prolapse_myxomatous_2_patient_1.json new file mode 100644 index 000000000..3663a808b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mitral_valve_prolapse_myxomatous_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "mitral_valve_prolapse,_myxomatous_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001653", + "label": "Mitral regurgitation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607829", + "label": "Mitral valve prolapse, myxomatous 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:29:45.727477Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Miyoshi_muscular_dystrophy_1_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "miyoshi_muscular_dystrophy_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003560", + "label": "Muscular dystrophy" + } + }, + { + "type": { + "id": "HP:0003236", + "label": "Elevated circulating creatine kinase concentration" + } + }, + { + "type": { + "id": "HP:0003551", + "label": "Difficulty climbing stairs" + } + }, + { + "type": { + "id": "HP:0010546", + "label": "Muscle fibrillation" + } + }, + { + "type": { + "id": "HP:0200101", + "label": "Decreased/absent ankle reflexes" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:254130", + "label": "Miyoshi muscular dystrophy 1" + } + } + ], + "metaData": { + "created": "2024-06-12T01:40:54.748506Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Modifier_X_linked_for_neurofunctional_defects_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Modifier_X_linked_for_neurofunctional_defects_patient_1.json new file mode 100644 index 000000000..305d7ab56 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Modifier_X_linked_for_neurofunctional_defects_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "modifier,_x-linked,_for_neurofunctional_defects", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000707", + "label": "Abnormality of the nervous system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:309840", + "label": "Modifier, X-linked, for neurofunctional defects" + } + } + ], + "metaData": { + "created": "2024-06-11T20:36:26.157310Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Molybdenum_cofactor_deficiency_complementation_group_A_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Molybdenum_cofactor_deficiency_complementation_group_A_patient_1.json new file mode 100644 index 000000000..fd68fd3b8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Molybdenum_cofactor_deficiency_complementation_group_A_patient_1.json @@ -0,0 +1,177 @@ +{ + "id": "molybdenum_cofactor_deficiency,_complementation_group_a", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012019", + "label": "Lens luxation" + } + }, + { + "type": { + "id": "HP:0003606", + "label": "Absent urinary urothione" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0003643", + "label": "Sulfite oxidase deficiency" + } + }, + { + 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+ ], + "diseases": [ + { + "term": { + "id": "OMIM:252250", + "label": "Monocyte chemotactic disorder" + } + } + ], + "metaData": { + "created": "2024-06-11T22:27:35.952714Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mononeuropathy_of_the_median_nerve_mild_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mononeuropathy_of_the_median_nerve_mild_patient_1.json new file mode 100644 index 000000000..7575b2797 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mononeuropathy_of_the_median_nerve_mild_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "mononeuropathy_of_the_median_nerve,_mild", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003477", + "label": "Peripheral axonal neuropathy" + } + }, + { + "type": { + "id": "HP:0009831", + "label": "Mononeuropathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613353", + "label": "Mononeuropathy of the median nerve, mild" + } + } + ], + "metaData": { + "created": "2024-06-11T20:42:29.837172Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in 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"phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Monosomy_7_myelodysplasia_and_leukemia_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Monosomy_7_myelodysplasia_and_leukemia_syndrome_2_patient_1.json new file mode 100644 index 000000000..3ff436f69 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Monosomy_7_myelodysplasia_and_leukemia_syndrome_2_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "monosomy_7_myelodysplasia_and_leukemia_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0004813", + "label": "Post-transfusion thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0001915", + "label": "Aplastic anemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619041", + "label": "Monosomy 7 myelodysplasia and leukemia syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:29:34.652296Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + 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{ + "id": "HP:0012874", + "label": "Abnormal male reproductive system physiology" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + }, + { + "type": { + "id": "HP:0025501", + "label": "Class III obesity" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + }, + { + "type": { + "id": "HP:0000819", + "label": "Diabetes mellitus" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + }, + { + "type": { + "id": "HP:0000831", + "label": "Insulin-resistant diabetes mellitus" + } + }, + { + "type": { + "id": "HP:0003574", + "label": "Positive regitine blocking test" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615703", + "label": "Morbid obesity and spermatogenic 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Morquio_syndrome_C_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "morquio_syndrome_c", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004328", + "label": "Abnormal anterior eye segment morphology" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0003653", + "label": "Cellular metachromasia" + } + }, + { + "type": { + "id": "HP:0003510", + "label": "Severe short stature" + } + }, + { + "type": { + "id": "HP:0008418", + "label": "Squared-off platyspondyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:252300", + "label": "Morquio syndrome C" + } + } + ], + "metaData": { + "created": "2024-06-11T19:24:16.472822Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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"label": "Abnormal cerebral morphology" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:257300", + "label": "Mosaic variegated aneuploidy syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:27:26.306993Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mosaic_variegated_aneuploidy_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mosaic_variegated_aneuploidy_syndrome_2_patient_1.json new file mode 100644 index 000000000..7b0cb2dfe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mosaic_variegated_aneuploidy_syndrome_2_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "mosaic_variegated_aneuploidy_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000954", + "label": "Single transverse palmar crease" + } + }, + { + "type": { + "id": "HP:0000286", + "label": "Epicanthus" + } + }, + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0000276", + "label": "Long face" + } + }, + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mosaic_variegated_aneuploidy_syndrome_3_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "mosaic_variegated_aneuploidy_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000490", + "label": "Deeply set eye" + } + }, + { + "type": { + "id": "HP:0002898", + "label": "Embryonal neoplasm" + } + }, + { + "type": { + "id": "HP:0003616", + "label": "Premature separation of centromeric heterochromatin" + } + }, + { + "type": { + "id": "HP:0007364", + "label": "Aplasia/Hypoplasia of the cerebrum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617598", + "label": "Mosaic variegated aneuploidy syndrome 3" + } + } + ], + "metaData": { + "created": "2024-06-12T01:40:23.966589Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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stability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620153", + "label": "Mosaic variegated aneuploidy syndrome 4" + } + } + ], + "metaData": { + "created": "2024-06-11T21:35:42.024423Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mosaic_variegated_aneuploidy_syndrome_7_with_inflammation_and_tumor_predisposition_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mosaic_variegated_aneuploidy_syndrome_7_with_inflammation_and_tumor_predisposition_patient_1.json new file mode 100644 index 000000000..700b73fb5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mosaic_variegated_aneuploidy_syndrome_7_with_inflammation_and_tumor_predisposition_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "mosaic_variegated_aneuploidy_syndrome_7_with_inflammation_and_tumor_predisposition", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030434", + "label": "Pilomatrixoma" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000962", + "label": "Hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0003764", + "label": "Nevus" + } + }, + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0002898", + "label": "Embryonal neoplasm" + } + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mowat_Wilson_syndrome_patient_1.json @@ -0,0 +1,182 @@ +{ + "id": "mowat-wilson_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0032076", + "label": "Abnormal male urethral meatus morphology" + } + }, + { + "type": { + "id": "HP:0000078", + "label": "Abnormality of the genital system" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0006313", + "label": "Widely spaced primary teeth" + } + }, + { + "type": { + "id": "HP:0034054", + "label": "Probst bundles" + } + }, + { + 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+ } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Moyamoya_disease_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Moyamoya_disease_1_patient_1.json new file mode 100644 index 000000000..44b1448e7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Moyamoya_disease_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "moyamoya_disease_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005291", + "label": "Inflammatory arteriopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:252350", + "label": "Moyamoya disease 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:31:57.378684Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Moyamoya_disease_2_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Moyamoya_disease_2_susceptibility_to_patient_1.json new file mode 100644 index 000000000..63cec6a8b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Moyamoya_disease_2_susceptibility_to_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "moyamoya_disease_2,_susceptibility_to", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P8Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + 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--git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Moyamoya_disease_4_with_short_stature_hypergonadotropic_hypogonadism_and_facial_dysmorphism_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Moyamoya_disease_4_with_short_stature_hypergonadotropic_hypogonadism_and_facial_dysmorphism_patient_1.json new file mode 100644 index 000000000..ebbdd6e5e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Moyamoya_disease_4_with_short_stature_hypergonadotropic_hypogonadism_and_facial_dysmorphism_patient_1.json @@ -0,0 +1,158 @@ +{ + "id": "moyamoya_disease_4_with_short_stature,_hypergonadotropic_hypogonadism,and_facial_dysmorphism", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P3Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031103", + "label": "Decreased cirrculating antimullerian hormone circulation" + } + }, + { + "type": { + "id": "HP:0001711", + "label": "Abnormal 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+ ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mullerian_aplasia_and_hyperandrogenism_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mullerian_aplasia_and_hyperandrogenism_patient_1.json new file mode 100644 index 000000000..11e7e185c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mullerian_aplasia_and_hyperandrogenism_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "mullerian_aplasia_and_hyperandrogenism", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001061", + "label": "Acne" + } + }, + { + "type": { + "id": "HP:0000151", + "label": "Aplasia of the uterus" + } + }, + { + "type": { + "id": "HP:0000786", + "label": "Primary amenorrhea" + } + }, + { + "type": { + "id": "HP:0034589", + "label": "Increased circulating dehydroepiandrosterone-sulfate concentration" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mullerian_duct_aplasia_unilateral_renal_agenesis_and_cervicothoracicsomite_anomalies_patient_1.json new file mode 100644 index 000000000..fa82fd85e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mullerian_duct_aplasia_unilateral_renal_agenesis_and_cervicothoracicsomite_anomalies_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "mullerian_duct_aplasia,_unilateral_renal_agenesis,_and_cervicothoracicsomite_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000772", + "label": "Abnormal rib morphology" + } + }, + { + "type": { + "id": "HP:0000104", + "label": "Renal agenesis" + } + }, + { + "type": { + "id": "HP:5201010", + "label": "Microform cleft of the upper lip" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601076", + "label": "Mullerian duct aplasia, unilateral renal 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_congenital_anomalies_neurodevelopmental_syndrome_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_congenital_anomalies_neurodevelopmental_syndrome_X_linked_patient_1.json new file mode 100644 index 000000000..90464f3e7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_congenital_anomalies_neurodevelopmental_syndrome_X_linked_patient_1.json @@ -0,0 +1,195 @@ +{ + "id": "multiple_congenital_anomalies-neurodevelopmental_syndrome,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000506", + "label": "Telecanthus" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000054", + "label": "Micropenis" + } + }, + { + "type": { + "id": "HP:0000081", + "label": "Duplicated collecting system" + } + }, + { + "type": { + "id": "HP:0000278", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_enchondromatosis_Maffucci_type_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "multiple_enchondromatosis,_maffucci_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005701", + "label": "Multiple enchondromatosis" + } + }, + { + "type": { + "id": "HP:0002756", + "label": "Pathologic fracture" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614569", + "label": "Multiple enchondromatosis, Maffucci type" + } + } + ], + "metaData": { + "created": "2024-06-11T22:22:39.821122Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_endocrine_neoplasia_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_endocrine_neoplasia_1_patient_1.json new file mode 100644 index 000000000..73232814c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_endocrine_neoplasia_1_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "multiple_endocrine_neoplasia_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100031", + "label": "Neoplasm of the thyroid gland" + } + }, + { + "type": { + "id": "HP:0002664", + "label": "Neoplasm" + } + }, + { + "type": { + "id": "HP:0012342", + "label": "Macroprolactinoma" + } + }, + { + "type": { + "id": "HP:0002044", + "label": "Zollinger-Ellison syndrome" + } + }, + { + "type": { + "id": "HP:6000516", + "label": "Elevated circulating 21-deoxycortisol concentration" + } + }, + { + "type": { + "id": "HP:0002592", + "label": "Gastric ulcer" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:131100", + "label": "Multiple endocrine neoplasia 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:53:11.974328Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_endocrine_neoplasia_type_IIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_endocrine_neoplasia_type_IIA_patient_1.json new file mode 100644 index 000000000..db6f3a1fb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_endocrine_neoplasia_type_IIA_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "multiple_endocrine_neoplasia,_type_iia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011781", + "label": "Thyroid C cell hyperplasia" + } + }, + { + "type": { + "id": "HP:0002251", + "label": "Aganglionic megacolon" + } + }, + { + "type": { + "id": "HP:0000822", + "label": "Hypertension" + } + }, + { + "type": { + "id": "HP:0032346", + "label": "Cutaneous lichen amyloidosis" + } + }, + { + "type": { + "id": "HP:0011979", + "label": "Elevated urinary dopamine level" + } + }, + { + "type": { + "id": "HP:0003345", + "label": 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{ + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_endocrine_neoplasia_type_IIB_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_endocrine_neoplasia_type_IIB_patient_1.json new file mode 100644 index 000000000..a16fc7856 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_endocrine_neoplasia_type_IIB_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "multiple_endocrine_neoplasia,_type_iib", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001531", + "label": "Failure to thrive in infancy" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0000098", + "label": "Tall stature" + } + }, + { + "type": { + "id": "HP:0002865", + "label": "Medullary thyroid carcinoma" + } + }, + { + "type": { + "id": "HP:0003528", + "label": "Elevated circulating calcitonin concentration" + } + }, + { + "type": { + "id": "HP:0100568", + "label": "Neoplasm of the endocrine system" + } + }, + { + "type": { + "id": "HP:0009062", + "label": "Infantile axial hypotonia" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0003639", + "label": "Elevated urinary epinephrine level" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0001033", + "label": "Facial flushing after alcohol intake" + } + }, + { + "type": { + "id": "HP:0006461", + "label": "Proximal femoral epiphysiolysis" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_endocrine_neoplasia_type_IV_patient_1.json new file mode 100644 index 000000000..73eea459f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_endocrine_neoplasia_type_IV_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "multiple_endocrine_neoplasia,_type_iv", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006772", + "label": "Renal angiomyolipoma" + } + }, + { + "type": { + "id": "HP:0000843", + "label": "Hyperparathyroidism" + } + }, + { + "type": { + "id": "HP:0100570", + "label": "Carcinoid tumor" + } + }, + { + "type": { + "id": "HP:0008200", + "label": "Primary hyperparathyroidism" + } + }, + { + "type": { + "id": "HP:0030405", + "label": "Pancreatic endocrine tumor" + } + }, + { + "type": { + "id": "HP:0000821", + "label": "Hypothyroidism" + } + }, + { + "type": { + "id": "HP:0030731", + "label": "Carcinoma" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_exostoses_with_spastic_tetraparesis_patient_1.json new file mode 100644 index 000000000..c3531e99c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_exostoses_with_spastic_tetraparesis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "multiple_exostoses_with_spastic_tetraparesis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002762", + "label": "Multiple exostoses" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:158345", + "label": "Multiple exostoses with spastic tetraparesis" + } + } + ], + "metaData": { + "created": "2024-06-11T17:46:01.363016Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_fibroadenomas_of_the_breast_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_fibroadenomas_of_the_breast_patient_1.json new file mode 100644 index 000000000..20c0304ac --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_fibroadenomas_of_the_breast_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "multiple_fibroadenomas_of_the_breast", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010619", + "label": "Fibroadenoma of the breast" + }, + "modifiers": [ + { + "id": "HP:0030651", + "label": "Multifocal" + } + ] + } + ], + "diseases": [ + 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end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_pterygium_syndrome_Lethal_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_pterygium_syndrome_Lethal_type_patient_1.json new file mode 100644 index 000000000..af287d4b3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_pterygium_syndrome_Lethal_type_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "multiple_pterygium_syndrome,_lethal_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001961", + "label": "Hypoplastic heart" + } + }, + { + "type": { + "id": "HP:0001371", + "label": "Flexion contracture" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0000883", + "label": "Thin ribs" + } + }, + { + "type": { + "id": "HP:0000320", + "label": "Bird-like facies" + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_synostoses_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_synostoses_syndrome_1_patient_1.json new file mode 100644 index 000000000..1b425b0b4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_synostoses_syndrome_1_patient_1.json @@ -0,0 +1,267 @@ +{ + "id": "multiple_synostoses_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011918", + "label": "Clinodactyly of the 4th toe" + } + }, + { + "type": { + "id": "HP:0000430", + "label": "Underdeveloped nasal alae" + } + }, + { + "type": { + "id": "HP:0009773", + "label": "Symphalangism affecting the phalanges of the hand" + } + }, + { + "type": { + "id": "HP:0008607", + "label": "Progressive conductive hearing impairment" + } + }, + { + "type": { + "id": "HP:0000540", + "label": "Hypermetropia" + } + }, + { + "type": { + "id": "HP:0000275", + 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end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_synostoses_syndrome_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_synostoses_syndrome_3_patient_1.json new file mode 100644 index 000000000..78ae8b10f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_synostoses_syndrome_3_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "multiple_synostoses_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000268", + "label": "Dolichocephaly" + } + }, + { + "type": { + "id": "HP:0008080", + "label": "Hallux varus" + } + }, + { + "type": { + "id": "HP:0010621", + "label": "Cutaneous syndactyly of toes" + } + }, + { + "type": { + "id": "HP:0011304", + "label": "Broad thumb" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0009701", + "label": "Metacarpal synostosis" + } + }, + { + "type": { + "id": "HP:0008111", + "label": "Broad distal hallux" + } + }, + { + "type": { + "id": "HP:0000520", + "label": "Proptosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612961", + "label": "Multiple synostoses syndrome 3" + } + } + ], + "metaData": { + "created": "2024-06-11T23:24:35.680445Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_synostoses_syndrome_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_synostoses_syndrome_4_patient_1.json new file mode 100644 index 000000000..663a3287b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_synostoses_syndrome_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "multiple_synostoses_syndrome_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617898", + "label": "Multiple synostoses syndrome 4" + } + } + ], + "metaData": { + "created": "2024-06-11T20:09:05.029520Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_system_atrophy_1_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_system_atrophy_1_susceptibility_to_patient_1.json new file mode 100644 index 000000000..8cb57ecdb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_system_atrophy_1_susceptibility_to_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "multiple_system_atrophy_1,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" + } + }, + { + "type": { + "id": "HP:0000966", + "label": "Hypohidrosis" + } + }, + { + "type": { + "id": "HP:0002172", + "label": "Postural instability" + } + }, + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + } + }, + { + "type": { + "id": "HP:0002542", + "label": "Olivopontocerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0007911", + "label": "Congenital bilateral ptosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:146500", + "label": "Multiple system atrophy 1, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T21:16:43.536813Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_tumor_associated_chromosome_region_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_tumor_associated_chromosome_region_1_patient_1.json new file mode 100644 index 000000000..1bab24cf7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multiple_tumor_associated_chromosome_region_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "multiple_tumor-associated_chromosome_region_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002667", + "label": "Nephroblastoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:194071", + "label": "Multiple tumor-associated chromosome region 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:36:16.582402Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Multisystemic_smooth_muscle_dysfunction_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multisystemic_smooth_muscle_dysfunction_syndrome_patient_1.json new file mode 100644 index 000000000..705a5d43a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Multisystemic_smooth_muscle_dysfunction_syndrome_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "multisystemic_smooth_muscle_dysfunction_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002566", + "label": "Intestinal malrotation" + } + }, + { + "type": { + "id": "HP:0002092", + "label": "Pulmonary arterial hypertension" + } + }, + { + "type": { + "id": "HP:0004927", + "label": "Pulmonary artery dilatation" + } + }, + { + "type": { + "id": "HP:0034325", + "label": "Common carotid artery aneurysm" + } + }, + { + "type": { + "id": "HP:0004944", + "label": "Dilatation of the cerebral artery" + } + }, + { + "type": { + "id": "HP:0032398", + "label": "Dysgyria" + } + }, + { + "type": { + "id": "HP:0007866", + "label": "Retinal infarction" + } + }, + { + "type": { + "id": "HP:0002617", + "label": "Vascular dilatation" + } + }, + { + "type": { + "id": "HP:0030891", + "label": "Periventricular white matter hyperintensities" + } + }, + { + "type": { + "id": "HP:0012727", + "label": "Thoracic aortic aneurysm" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613834", + "label": "Multisystemic smooth muscle dysfunction syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:03:54.091565Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Mungan_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mungan_syndrome_patient_1.json new file mode 100644 index 000000000..765a7e1ab --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mungan_syndrome_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "mungan_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011682", + "label": "Perimembranous ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0002027", + "label": "Abdominal pain" + } + }, + { + "type": { + "id": "HP:0004389", + "label": "Intestinal pseudo-obstruction" + } + }, + { + "type": { + "id": "HP:0001642", + "label": "Pulmonic stenosis" + } + }, + { + "type": { + "id": "HP:0030996", + "label": "Megaduodenum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611376", + "label": "Mungan syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:34:02.719366Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscle_cramps_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscle_cramps_familial_patient_1.json new file mode 100644 index 000000000..d5b3f16cd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscle_cramps_familial_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "muscle_cramps,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003394", + "label": "Muscle spasm" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:158400", + "label": "Muscle cramps, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T23:27:15.355197Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscle_glycogenosis_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscle_glycogenosis_X_linked_patient_1.json new file mode 100644 index 000000000..be80f8ac8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscle_glycogenosis_X_linked_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "muscle_glycogenosis,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:6000198", + "label": "Reduced muscle phosphorylase kinase activity" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0011727", + "label": "Peroneal muscle weakness" + } + }, + { + "type": { + "id": "HP:0003392", + "label": "First dorsal interossei muscle weakness" + } + }, + { + "type": { + "id": "HP:0003731", + "label": "Quadriceps muscle weakness" + } + }, + { + "type": { + "id": "HP:0008967", + "label": "Exercise-induced muscle stiffness" + } + }, + { + "type": { + "id": "HP:0012337", + "label": "Abnormal homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300559", + "label": "Muscle glycogenosis, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T22:54:20.439580Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscle_hypertrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscle_hypertrophy_patient_1.json new file mode 100644 index 000000000..51d79eb30 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscle_hypertrophy_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "muscle_hypertrophy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001348", + "label": "Brisk reflexes" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614160", + "label": "Muscle hypertrophy" + } + } + ], + "metaData": { + "created": "2024-06-11T19:45:36.324880Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_atrophy_ataxia_retinitis_pigmentosa_and_diabetes_mellitus_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_atrophy_ataxia_retinitis_pigmentosa_and_diabetes_mellitus_patient_1.json new file mode 100644 index 000000000..b5159df40 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_atrophy_ataxia_retinitis_pigmentosa_and_diabetes_mellitus_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "muscular_atrophy,_ataxia,_retinitis_pigmentosa,_and_diabetes_mellitus", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000819", + "label": "Diabetes mellitus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:158500", + "label": "Muscular atrophy, ataxia, retinitis pigmentosa, and diabetes mellitus" + } + } + ], + "metaData": { + "created": "2024-06-11T21:19:37.894681Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_atrophy_malignant_neurogenic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_atrophy_malignant_neurogenic_patient_1.json new file mode 100644 index 000000000..839284e60 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_atrophy_malignant_neurogenic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "muscular_atrophy,_malignant_neurogenic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002203", + "label": "Respiratory paralysis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:158650", + "label": "Muscular atrophy, malignant neurogenic" + } + } + ], + "metaData": { + "created": "2024-06-11T20:14:20.582482Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_Barnes_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_Barnes_type_patient_1.json new file mode 100644 index 000000000..d11a5c8e6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_Barnes_type_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "muscular_dystrophy,_barnes_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003560", + "label": "Muscular dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:158800", + "label": "Muscular dystrophy, Barnes type" + } + } + ], + "metaData": { + "created": "2024-06-11T18:33:52.005704Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_Becker_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_Becker_type_patient_1.json new file mode 100644 index 000000000..eb5a42fa8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_Becker_type_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "muscular_dystrophy,_becker_type", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P65Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011675", + "label": "Arrhythmia" + } + }, + { + "type": { + "id": "HP:0003236", + "label": "Elevated circulating creatine kinase concentration" + } + }, + { + "type": { + "id": "HP:0031597", + "label": "PR segment elevation" + } + }, + { + "type": { + "id": "HP:0003707", + "label": "Calf muscle pseudohypertrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300376", + "label": "Muscular dystrophy, Becker type" + } + } + ], + "metaData": { + "created": "2024-06-11T22:42:01.724053Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_Cardiac_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_Cardiac_type_patient_1.json new file mode 100644 index 000000000..d4f554033 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_Cardiac_type_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "muscular_dystrophy,_cardiac_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003560", + "label": "Muscular dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:309930", + "label": "Muscular dystrophy, Cardiac type" + } + } + ], + "metaData": { + "created": "2024-06-11T19:54:06.536110Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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"id": "HP:0006980", + "label": "Progressive leukoencephalopathy" + } + }, + { + "type": { + "id": "HP:0007240", + "label": "Progressive gait ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:253590", + "label": "Muscular dystrophy, adult-onset, with leukoencephalopathy" + } + } + ], + "metaData": { + "created": "2024-06-11T19:41:28.049456Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_congenital_1B_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_congenital_1B_patient_1.json new file mode 100644 index 000000000..5bff41bc1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_congenital_1B_patient_1.json @@ -0,0 +1,104 @@ +{ + "id": "muscular_dystrophy,_congenital,_1b", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P3Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003547", + "label": "Shoulder girdle muscle weakness" + } + }, + { + "type": { + "id": "HP:0009113", + "label": "Diaphragmatic weakness" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0003236", + "label": "Elevated circulating creatine kinase concentration" + } + }, + { + "type": { + "id": "HP:0002878", + 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_congenital_due_to_integrin_alpha_7_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_congenital_due_to_integrin_alpha_7_deficiency_patient_1.json new file mode 100644 index 000000000..a70e2bcdf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_congenital_due_to_integrin_alpha_7_deficiency_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "muscular_dystrophy,_congenital,_due_to_integrin_alpha-7_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000473", + "label": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_congenital_hearing_loss_and_ovarian_insufficiency_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_congenital_hearing_loss_and_ovarian_insufficiency_syndrome_patient_1.json new file mode 100644 index 000000000..a6ee4fece --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_congenital_hearing_loss_and_ovarian_insufficiency_syndrome_patient_1.json @@ -0,0 +1,74 @@ +{ + "id": "muscular_dystrophy,_congenital_hearing_loss,_and_ovarian_insufficiency_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P6Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009073", + "label": "Progressive proximal muscle weakness" + } + }, + { + "type": { + "id": "HP:0008222", + "label": "Female infertility" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal 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at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_congenital_megaconial_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_congenital_megaconial_type_patient_1.json new file mode 100644 index 000000000..3cf513b8a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_congenital_megaconial_type_patient_1.json @@ -0,0 +1,134 @@ +{ + "id": "muscular_dystrophy,_congenital,_megaconial_type", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003560", + "label": "Muscular dystrophy" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0033686", + "label": "Mitochondrial hypertrophy" + } + }, + { 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_congenital_merosin_deficient_or_partially_deficient_patient_1.json new file mode 100644 index 000000000..9f6d31f67 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_congenital_merosin_deficient_or_partially_deficient_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "muscular_dystrophy,_congenital,_merosin_deficient_or_partially_deficient", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012794", + "label": "Periventricular white matter hypodensities" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + }, + { + "type": { + "id": "HP:0008180", + "label": "Mildly elevated creatine kinase" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607855", + "label": "Muscular dystrophy, congenital, merosin deficient or partially deficient" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_congenital_with_cataracts_and_intellectual_disability_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "muscular_dystrophy,_congenital,_with_cataracts_and_intellectual_disability", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0009126", + "label": "Increased adipose tissue" + } + }, + { + "type": { + "id": "HP:0003391", + "label": "Gowers sign" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0003236", + "label": "Elevated circulating creatine kinase concentration" + } + }, + { + "type": { + "id": "HP:0002093", + "label": "Respiratory insufficiency" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": 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newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_A_13_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_A_13_patient_1.json new file mode 100644 index 000000000..1ab8c1e4d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_dystroglycanopathy_congenital_with_brain_and_eye_anomalies_type_A_13_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_a,_13", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001321", + "label": "Cerebellar hypoplasia" + } + }, + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + } + }, + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_limb_girdle_autosomal_recessive_26_patient_1.json new file mode 100644 index 000000000..c164e8814 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_limb_girdle_autosomal_recessive_26_patient_1.json @@ -0,0 +1,74 @@ +{ + "id": "muscular_dystrophy,_limb-girdle,_autosomal_recessive_26", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P29Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003713", + "label": "Muscle fiber necrosis" + } + }, + { + "type": { + "id": "HP:0003557", + "label": "Increased variability in muscle fiber diameter" + } + }, + { + "type": { + "id": "HP:0002527", + "label": "Falls" + } + }, + { + "type": { + "id": "HP:0003701", + "label": "Proximal muscle weakness" + } + }, + { + "type": { + "id": "HP:0008981", + "label": "Calf muscle hypertrophy" + } + } + ], + "diseases": [ + { + "term": { 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new file mode 100644 index 000000000..8ec39d834 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_limb_girdle_autosomal_recessive_27_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "muscular_dystrophy,_limb-girdle,_autosomal_recessive_27", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008994", + "label": "Proximal muscle weakness in lower limbs" + } + }, + { + "type": { + "id": "HP:0000467", + "label": "Neck muscle weakness" + } + }, + { + "type": { + "id": "HP:0008997", + "label": "Proximal muscle weakness in upper limbs" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + }, + { + "type": { + "id": "HP:0008959", + "label": "Distal upper limb muscle weakness" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619566", + "label": "Muscular dystrophy, 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_limb_girdle_autosomal_recessive_28_patient_1.json @@ -0,0 +1,159 @@ +{ + "id": "muscular_dystrophy,_limb-girdle,_autosomal_recessive_28", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009129", + "label": "Upper limb amyotrophy" + } + }, + { + "type": { + "id": "HP:0001265", + "label": "Hyporeflexia" + } + }, + { + "type": { + "id": "HP:0001315", + "label": "Reduced tendon reflexes" + } + }, + { + "type": { + "id": "HP:0410174", + "label": "Increased circulating troponin T concentration" + } + }, + { + "type": { + "id": "HP:0008981", + "label": "Calf muscle hypertrophy" + } + }, + { + "type": { + "id": "HP:0004887", + "label": "Respiratory failure requiring assisted ventilation" + } + }, + { + "type": { + "id": "HP:0003327", + "label": "Axial muscle weakness" + } + }, + { + "type": { + "id": "HP:0003326", + "label": "Myalgia" + } + }, + { + "type": { + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_limb_girdle_type_2B_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_limb_girdle_type_2B_patient_1.json new file mode 100644 index 000000000..9d9fe9e77 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Muscular_dystrophy_limb_girdle_type_2B_patient_1.json @@ -0,0 +1,98 @@ +{ + "id": "muscular_dystrophy,_limb-girdle,_type_2b", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P47Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003701", + "label": "Proximal muscle weakness" + } + }, + { + "type": { + "id": "HP:0003551", + "label": "Difficulty climbing stairs" + } + }, + { + "type": { + "id": "HP:0006794", + "label": "Loss of ability to walk in first decade" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003596", + "label": "Middle age onset" + } + } + }, + { + "type": { + "id": 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mode 100644 index 000000000..5c9c9975d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myasthenia_congenital_refractory_to_acetylcholinesterase_inhibitors_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "myasthenia,_congenital,_refractory_to_acetylcholinesterase_inhibitors", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003473", + "label": "Fatigable weakness" + } + }, + { + "type": { + "id": "HP:0000544", + "label": "External ophthalmoplegia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:254190", + "label": "Myasthenia, congenital, refractory to acetylcholinesterase inhibitors" + } + } + ], + "metaData": { + "created": "2024-06-11T22:26:47.989603Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myasthenia_gravis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myasthenia_gravis_patient_1.json new file mode 100644 index 000000000..90c72c3e4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myasthenia_gravis_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "myasthenia_gravis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0002015", + "label": "Dysphagia" + } + }, + { + "type": { + "id": "HP:0012373", + "label": "Abnormal eye physiology" + } + }, + { + "type": { + "id": "HP:0005216", + "label": "Impaired mastication" + } + }, + { + "type": { + "id": "HP:0002715", + "label": "Abnormality of the immune system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:254200", + "label": "Myasthenia gravis" + } + } + ], + "metaData": { + "created": "2024-06-11T19:40:42.992834Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myasthenia_limb_girdle_autoimmune_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myasthenia_limb_girdle_autoimmune_patient_1.json new file mode 100644 index 000000000..452c1209a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myasthenia_limb_girdle_autoimmune_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "myasthenia,_limb-girdle,_autoimmune", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007126", + "label": "Proximal amyotrophy" + } + }, + { + "type": { + "id": "HP:0000872", + "label": "Hashimoto thyroiditis" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + }, + { + "type": { + "id": "HP:0000597", + "label": "Ophthalmoparesis" + } + }, + { + "type": { + "id": "HP:0003403", + "label": "EMG: decremental response of compound muscle action potential to repetitive nerve stimulation" + } + } + 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000000000..ebe83bfb4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myasthenia_limb_girdle_familial_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "myasthenia,_limb-girdle,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003473", + "label": "Fatigable weakness" + } + }, + { + "type": { + "id": "HP:0030319", + "label": "Weakness of facial musculature" + } + }, + { + "type": { + "id": "HP:0002747", + "label": "Respiratory insufficiency due to muscle weakness" + } + }, + { + "type": { + "id": "HP:0002792", + "label": "Reduced vital capacity" + } + }, + { + "type": { + "id": "HP:0003693", + "label": "Distal amyotrophy" + } + }, + { + "type": { + "id": "HP:0001283", + "label": "Bulbar palsy" + } + }, + { + "type": { + "id": "HP:0002515", + "label": "Waddling gait" + } + }, + { + "type": { + "id": "HP:0003388", + "label": "Easy fatigability" + } + }, + { + "type": { + "id": "HP:0008180", + "label": "Mildly 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} +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myasthenic_syndrome_congenital_13_with_tubular_aggregates_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myasthenic_syndrome_congenital_13_with_tubular_aggregates_patient_1.json new file mode 100644 index 000000000..62066e11f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myasthenic_syndrome_congenital_13_with_tubular_aggregates_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "myasthenic_syndrome,_congenital,_13,_with_tubular_aggregates", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003701", + "label": "Proximal muscle weakness" + } + }, + { + "type": { + "id": "HP:0100301", + "label": "Muscle fiber tubular inclusions" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0030205", + "label": "Increased jitter at single fiber EMG" + } + } + ], 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Mycosis_fungoides_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "mycosis_fungoides", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008069", + "label": "Neoplasm of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:254400", + "label": "Mycosis fungoides" + } + } + ], + "metaData": { + "created": "2024-06-11T20:31:46.956656Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myelinated_optic_nerve_fibers_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myelinated_optic_nerve_fibers_patient_1.json new file mode 100644 index 000000000..3e06e593c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myelinated_optic_nerve_fibers_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myelinated_optic_nerve_fibers", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000478", + "label": "Abnormality of the eye" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:159500", + "label": "Myelinated optic nerve fibers" + } + } + ], + "metaData": { + "created": "2024-06-11T18:09:42.587776Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myelocytic_leukemia_like_syndrome_familial_chronic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myelocytic_leukemia_like_syndrome_familial_chronic_patient_1.json new file mode 100644 index 000000000..befc12a18 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myelocytic_leukemia_like_syndrome_familial_chronic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myelocytic_leukemia-like_syndrome,_familial,_chronic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005506", + "label": "Chronic myelogenous leukemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600080", + "label": "Myelocytic leukemia-like syndrome, familial, chronic" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:31.406475Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myelodysplasia_and_leukemia_syndrome_with_monosomy_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myelodysplasia_and_leukemia_syndrome_with_monosomy_7_patient_1.json new file mode 100644 index 000000000..aa11f502f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myelodysplasia_and_leukemia_syndrome_with_monosomy_7_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "myelodysplasia_and_leukemia_syndrome_with_monosomy_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004808", + "label": "Acute myeloid leukemia" + } + }, + { + "type": { + "id": "HP:0005518", + "label": "Increased mean corpuscular volume" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:252270", + "label": "Myelodysplasia and leukemia syndrome with monosomy 7" + } + } + ], + "metaData": { + "created": "2024-06-11T20:51:54.826631Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myelodysplastic_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myelodysplastic_syndrome_patient_1.json new file mode 100644 index 000000000..09ff55432 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myelodysplastic_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myelodysplastic_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002863", + "label": "Myelodysplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614286", + "label": "Myelodysplastic syndrome" + } + } + ], + "metaData": { + "created": "2024-06-12T01:59:40.123215Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myelofibrosis_with_myeloid_metaplasia_somatic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myelofibrosis_with_myeloid_metaplasia_somatic_patient_1.json new file mode 100644 index 000000000..5ded7dd37 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myelofibrosis_with_myeloid_metaplasia_somatic_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "myelofibrosis_with_myeloid_metaplasia,_somatic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001945", + "label": "Fever" + } + }, + { + "type": { + "id": "HP:0001744", + "label": "Splenomegaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:254450", + "label": "Myelofibrosis with myeloid metaplasia, somatic" + } + } + ], + "metaData": { + "created": "2024-06-11T22:58:20.569532Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myelolymphatic_insufficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myelolymphatic_insufficiency_patient_1.json new file mode 100644 index 000000000..826ace8e3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myelolymphatic_insufficiency_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "myelolymphatic_insufficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011447", + "label": "Hyposegmentation of neutrophil nuclei" + } + }, + { + "type": { + "id": "HP:0011893", + "label": "Abnormal leukocyte count" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:310350", + "label": "Myelolymphatic insufficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T18:26:43.601690Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myelopathy_htlv_1_associated_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myelopathy_htlv_1_associated_patient_1.json new file mode 100644 index 000000000..7e829508d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myelopathy_htlv_1_associated_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myelopathy,_htlv-1-associated", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002196", + "label": "Myelopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:159580", + "label": "Myelopathy, htlv-1-associated" + } + } + ], + "metaData": { + "created": "2024-06-11T21:47:47.751824Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myeloperoxidase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myeloperoxidase_deficiency_patient_1.json new file mode 100644 index 000000000..1aba95258 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myeloperoxidase_deficiency_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "myeloperoxidase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001939", + "label": "Abnormality of metabolism/homeostasis" + } + }, + { + "type": { + "id": "HP:0002715", + "label": "Abnormality of the immune system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:254600", + "label": "Myeloperoxidase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T20:51:19.180199Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myeloproliferative_disease_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myeloproliferative_disease_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..99e1dc0e1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myeloproliferative_disease_autosomal_recessive_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myeloproliferative_disease,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004852", + "label": "Reduced leukocyte alkaline phosphatase" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:254700", + "label": "Myeloproliferative disease, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T18:34:53.165352Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myeloproliferative_disorder_chronic_with_eosinophilia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myeloproliferative_disorder_chronic_with_eosinophilia_patient_1.json new file mode 100644 index 000000000..159acc59b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myeloproliferative_disorder_chronic_with_eosinophilia_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "myeloproliferative_disorder,_chronic,_with_eosinophilia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005534", + "label": "Transient myeloproliferative syndrome" + } + }, + { + "type": { + "id": "HP:0006782", + "label": "Malignant eosinophil proliferation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:131440", + "label": "Myeloproliferative disorder, chronic, with eosinophilia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:26:35.942698Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myeloproliferative_lymphoproliferative_neoplasms_familial_multiple_types_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myeloproliferative_lymphoproliferative_neoplasms_familial_multiple_types_susceptibility_to_patient_1.json new file mode 100644 index 000000000..ae116b7dc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myeloproliferative_lymphoproliferative_neoplasms_familial_multiple_types_susceptibility_to_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "myeloproliferative/lymphoproliferative_neoplasms,_familial_(multiple_types),_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004808", + "label": "Acute myeloid leukemia" + } + }, + { + "type": { + "id": "HP:0001881", + "label": "Abnormal leukocyte morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616871", + "label": "Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T23:18:35.734516Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myeloproliferative_syndrome_transient_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myeloproliferative_syndrome_transient_patient_1.json new file mode 100644 index 000000000..cdeacd8db --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myeloproliferative_syndrome_transient_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myeloproliferative_syndrome,_transient", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001974", + "label": "Leukocytosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:159595", + "label": "Myeloproliferative syndrome, transient" + } + } + ], + "metaData": { + "created": "2024-06-11T21:29:36.538480Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myhre_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myhre_syndrome_patient_1.json new file mode 100644 index 000000000..14787e1c7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myhre_syndrome_patient_1.json @@ -0,0 +1,249 @@ +{ + "id": "myhre_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal defect" + } + }, + { + "type": { + "id": "HP:0000303", + "label": "Mandibular prognathia" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0000256", + "label": "Macrocephaly" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:0009121", + "label": "Abnormal axial skeleton morphology" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0011853", + "label": "Serous pericardial effusion" + } + }, + { + "type": { + "id": "HP:0008093", + "label": "Short 4th 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoclonic_atonic_epilepsy_patient_1.json new file mode 100644 index 000000000..17c024843 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoclonic_atonic_epilepsy_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "myoclonic-atonic_epilepsy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" + } + }, + { + "type": { + "id": "HP:0011149", + "label": "Absence seizure with eyelid myoclonia" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0000717", + "label": "Autism" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616421", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoclonic_epilepsy_Hartung_type_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myoclonic_epilepsy,_hartung_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002123", + "label": "Generalized myoclonic seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:159600", + "label": "Myoclonic epilepsy, Hartung type" + } + } + ], + "metaData": { + "created": "2024-06-11T20:05:52.964165Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoclonic_epilepsy_associated_with_ragged_red_fibers_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoclonic_epilepsy_associated_with_ragged_red_fibers_patient_1.json new file mode 100644 index 000000000..5a77d35e9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoclonic_epilepsy_associated_with_ragged_red_fibers_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "myoclonic_epilepsy_associated_with_ragged-red_fibers", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003200", + "label": "Ragged-red muscle fibers" + } + }, + { + "type": { + "id": "HP:0002123", + "label": "Generalized myoclonic seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:545000", + "label": "Myoclonic epilepsy associated with ragged-red fibers" + } + } + ], + "metaData": { 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoclonic_epilepsy_familial_infantile_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "myoclonic_epilepsy,_familial_infantile", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0031629", + "label": "Impaired tandem gait" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605021", + "label": "Myoclonic epilepsy, familial infantile" + } + } + ], + "metaData": { + "created": "2024-06-11T18:32:16.905450Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoclonic_epilepsy_juvenile_susceptibility_to_1_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "myoclonic_epilepsy,_juvenile,_susceptibility_to,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0012847", + "label": "Epilepsia partialis continua" + } + }, + { + "type": { + "id": "HP:0002353", + "label": "EEG abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:254770", + "label": "Myoclonic epilepsy, juvenile, susceptibility to, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:43:50.518923Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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"id": "HP:0002392", + "label": "EEG with polyspike wave complexes" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611364", + "label": "Myoclonic epilepsy, juvenile, susceptibility to, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T21:42:25.154887Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoclonic_epilepsy_of_Lafora_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoclonic_epilepsy_of_Lafora_patient_1.json new file mode 100644 index 000000000..a979706f2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoclonic_epilepsy_of_Lafora_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "myoclonic_epilepsy_of_lafora", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000992", + "label": "Cutaneous photosensitivity" + } + }, + { + "type": { + "id": "HP:0000726", + "label": "Dementia" + } + }, + { + "type": { + "id": "HP:0002121", + "label": "Generalized non-motor (absence) seizure" + } + }, + { + "type": { + "id": "HP:0006803", + "label": "Vivid hallucination" + } + }, + { + "type": { + "id": "HP:0032661", + "label": "Generalized convulsive status epilepticus" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoclonus_cerebellar_ataxia_and_deafness_patient_1.json new file mode 100644 index 000000000..56e4ea684 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoclonus_cerebellar_ataxia_and_deafness_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myoclonus,_cerebellar_ataxia,_and_deafness", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001336", + "label": "Myoclonus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:159800", + "label": "Myoclonus, cerebellar ataxia, and deafness" + } + } + ], + "metaData": { + "created": "2024-06-11T22:32:06.075298Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoclonus_familial_cortical_patient_1.json new file mode 100644 index 000000000..e9ec65ff7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoclonus_familial_cortical_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "myoclonus,_familial_cortical", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002359", + "label": "Frequent falls" + } + }, + { + "type": { + "id": "HP:0034360", + "label": "Action myoclonus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614937", + "label": "Myoclonus, familial cortical" + } + } + ], + "metaData": { + "created": "2024-06-11T17:55:02.184049Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoclonus_intractable_neonatal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoclonus_intractable_neonatal_patient_1.json new file mode 100644 index 000000000..08709841a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoclonus_intractable_neonatal_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "myoclonus,_intractable,_neonatal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002015", + "label": "Dysphagia" + } + }, + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0001336", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myofibromatosis_infantile_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myofibromatosis,_infantile_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0020135", + "label": "Myofibromatosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615293", + "label": "Myofibromatosis, infantile 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:38:20.083524Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoglobinuria_acute_recurrent_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoglobinuria_acute_recurrent_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..814fc25fe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoglobinuria_acute_recurrent_autosomal_recessive_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "myoglobinuria,_acute_recurrent,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002913", + "label": "Myoglobinuria" + }, + "modifiers": [ + { + "id": "HP:0025215", + "label": "Triggered by febrile illness" + } + ] + }, + { + "type": { + "id": "HP:0001919", + "label": "Acute kidney injury" + } + }, + { + "type": { + "id": "HP:0001945", + "label": "Fever" + } + }, + { + "type": { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoglobinuria_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoglobinuria_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..b0ff2f900 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoglobinuria_autosomal_dominant_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myoglobinuria,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001919", + "label": "Acute kidney injury" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:160010", + "label": "Myoglobinuria, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T23:38:02.416860Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoglobinuria_recurrent_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoglobinuria_recurrent_patient_1.json new file mode 100644 index 000000000..900e46dd1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myoglobinuria_recurrent_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myoglobinuria,_recurrent", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003200", + "label": "Ragged-red muscle fibers" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:550500", + "label": "Myoglobinuria, 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopathy_X_linked_with_excessive_autophagy_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "myopathy,_x-linked,_with_excessive_autophagy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025717", + "label": "Skeletal muscle autophagosome accumulation" + } + }, + { + "type": { + "id": "HP:0009046", + "label": "Difficulty running" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0004302", + "label": "Functional motor deficit" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0012904", + "label": "Cold-sensitive myotonia" + } + }, + { + "type": { + "id": 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+ } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopathy_congenital_with_structured_cores_and_Z_line_abnormalities_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopathy_congenital_with_structured_cores_and_Z_line_abnormalities_patient_1.json new file mode 100644 index 000000000..d0f153d19 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopathy_congenital_with_structured_cores_and_Z_line_abnormalities_patient_1.json @@ -0,0 +1,128 @@ +{ + "id": "myopathy,_congenital_with_structured_cores_and_z-line_abnormalities", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P3Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001640", + "label": "Cardiomegaly" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopathy_congenital_with_tremor_patient_1.json new file mode 100644 index 000000000..def277eab --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopathy_congenital_with_tremor_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "myopathy,_congenital,_with_tremor", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002174", + "label": "Postural tremor" + } + }, + { + "type": { + "id": "HP:0003327", + "label": "Axial muscle weakness" + } + }, + { + "type": { + "id": "HP:0002705", + "label": "High, narrow palate" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618524", + "label": "Myopathy, congenital, with tremor" + } + } + ], + "metaData": { + "created": "2024-06-11T23:11:00.445259Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopathy_distal_7_adult_onset_X_linked_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "myopathy,_distal,_7,_adult-onset,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003691", + "label": "Scapular winging" + } + }, + { + "type": { + "id": "HP:0008959", + "label": "Distal upper limb muscle weakness" + } + }, + { + "type": { + "id": "HP:0100303", + "label": "Muscle fiber cytoplasmatic inclusion bodies" + } + }, + { + "type": { + "id": "HP:0003701", + "label": "Proximal muscle weakness" + } + }, + { + "type": { + "id": "HP:0012548", + "label": "Fatty replacement of skeletal muscle" + } + }, + { + "type": { + "id": "HP:0008963", + "label": "Tibialis muscle weakness" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopathy_distal_Tateyama_type_patient_1.json new file mode 100644 index 000000000..797ad8894 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopathy_distal_Tateyama_type_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "myopathy,_distal,_tateyama_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025435", + "label": "Increased circulating lactate dehydrogenase concentration" + } + }, + { + "type": { + "id": "HP:0003687", + "label": "Centrally nucleated skeletal muscle fibers" + } + }, + { + "type": { + "id": "HP:0031956", + "label": "Elevated circulating aspartate aminotransferase concentration" + } + }, + { + "type": { + "id": "HP:0030237", + "label": "Hand muscle weakness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614321", + "label": "Myopathy, distal, Tateyama type" + } + } + ], + "metaData": { + "created": "2024-06-11T22:43:55.612097Z", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopathy_myofibrillar_1_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "myopathy,_myofibrillar,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001644", + "label": "Dilated cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0001662", + "label": "Bradycardia" + } + }, + { + "type": { + "id": "HP:0001283", + "label": "Bulbar palsy" + } + }, + { + "type": { + "id": "HP:0001723", + "label": "Restrictive cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0003694", + "label": "Late-onset proximal muscle weakness" + } + }, + { + "type": { + "id": "HP:0004889", + "label": "Intermittent episodes of respiratory insufficiency due to muscle weakness" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601419", + "label": "Myopathy, myofibrillar, 1" + } + } + ], + "metaData": { + "created": 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopathy_myofibrillar_4_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "myopathy,_myofibrillar,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001271", + "label": "Polyneuropathy" + } + }, + { + "type": { + "id": "HP:0009073", + "label": "Progressive proximal muscle weakness" + } + }, + { + "type": { + "id": "HP:0011808", + "label": "Decreased patellar reflex" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609452", + "label": "Myopathy, myofibrillar, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T20:20:10.005415Z", + "createdBy": "phenotype2phenopacket", + 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"iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_10_patient_1.json new file mode 100644 index 000000000..1250dde20 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_10_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myopia_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609259", + "label": "Myopia 10" + } + } + ], + "metaData": { + "created": "2024-06-11T21:41:59.908170Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_15_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_15_patient_1.json new file mode 100644 index 000000000..e69dd1e53 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_15_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myopia_15", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612717", + "label": "Myopia 15" + } + } + ], + "metaData": { + "created": "2024-06-11T20:42:52.224918Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_17_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_17_patient_1.json new file mode 100644 index 000000000..cf7e6ba10 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_17_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "myopia_17", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011003", + "label": "High myopia" + } + }, + { + "type": { + "id": "HP:0007819", + "label": "Presenile cataracts" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608367", + "label": "Myopia 17" + } + } + ], + "metaData": { + "created": "2024-06-11T19:36:56.724518Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_19_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_19_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..fff575059 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_19_autosomal_dominant_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myopia_19,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011003", + "label": "High myopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613969", + "label": "Myopia 19, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T21:15:05.461939Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_1_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_1_X_linked_patient_1.json new file mode 100644 index 000000000..dec083f2d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_1_X_linked_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myopia_1,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:310460", + "label": "Myopia 1, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T21:43:58.650507Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_21_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_21_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..c3e092284 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_21_autosomal_dominant_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "myopia_21,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011003", + "label": "High myopia" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614167", + "label": "Myopia 21, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T20:14:32.485229Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_22_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_22_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..ef5cdf4af --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_22_autosomal_dominant_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myopia_22,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011003", + "label": "High myopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615420", + "label": "Myopia 22, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T18:41:17.551254Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_23_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_23_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..4ac6916d7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_23_autosomal_recessive_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "myopia_23,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011003", + "label": "High myopia" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615431", + "label": "Myopia 23, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T18:17:28.691928Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_24_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_24_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..835ab3b8d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_24_autosomal_dominant_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myopia_24,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011003", + "label": "High myopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615946", + "label": "Myopia 24, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-12T02:17:46.179963Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_25_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_25_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..d714d47a5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_25_autosomal_dominant_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "myopia_25,_autosomal_dominant", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P82Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011003", + "label": "High myopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617238", + "label": "Myopia 25, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T22:50:29.768561Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_26_X_linked_female_limited_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_26_X_linked_female_limited_patient_1.json new file mode 100644 index 000000000..11c05ba9e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_26_X_linked_female_limited_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "myopia_26,_x-linked,_female-limited", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P3Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011003", + "label": "High myopia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301010", + "label": "Myopia 26, X-linked, female-limited" + } + } + ], + "metaData": { + "created": "2024-06-11T20:15:55.648866Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_27_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_27_patient_1.json new file mode 100644 index 000000000..5fa3b22a4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_27_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "myopia_27", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011003", + "label": "High myopia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618827", + "label": "Myopia 27" + } + } + ], + "metaData": { + "created": "2024-06-11T20:27:52.446359Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_28_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_28_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..61759fd9a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_28_autosomal_recessive_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myopia_28,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619781", + "label": "Myopia 28, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T18:40:23.908178Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_2_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_2_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..88afa7095 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_2_autosomal_dominant_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myopia_2,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000541", + "label": "Retinal detachment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:160700", + "label": "Myopia 2, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T22:06:37.728555Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_3_patient_1.json new file mode 100644 index 000000000..f4bced9a7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_3_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "myopia-3", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P14Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000541", + "label": "Retinal detachment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603221", + "label": "Myopia-3" + } + } + ], + "metaData": { + "created": "2024-06-11T20:23:34.231660Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_5_patient_1.json new file mode 100644 index 000000000..82e3fed0e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myopia_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011003", + "label": "High myopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608474", + "label": "Myopia 5" + } + } + ], + "metaData": { + "created": "2024-06-11T18:17:20.013049Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_6_patient_1.json new file mode 100644 index 000000000..db23a4d66 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_6_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myopia_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011003", + "label": "High myopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608908", + "label": "Myopia 6" + } + } + ], + "metaData": { + "created": "2024-06-11T18:37:33.749692Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_7_patient_1.json new file mode 100644 index 000000000..350da322e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_7_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myopia_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609256", + "label": "Myopia 7" + } + } + ], + "metaData": { + "created": "2024-06-11T20:55:10.636576Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_8_patient_1.json new file mode 100644 index 000000000..d86be0191 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_8_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myopia_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609257", + "label": "Myopia 8" + } + } + ], + "metaData": { + "created": "2024-06-11T20:47:31.439019Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_9_patient_1.json new file mode 100644 index 000000000..636c05242 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_9_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myopia_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609258", + "label": "Myopia 9" + } + } + ], + "metaData": { + "created": "2024-06-11T21:34:50.049398Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_high_with_cataract_and_vitreoretinal_degeneration_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_high_with_cataract_and_vitreoretinal_degeneration_patient_1.json new file mode 100644 index 000000000..c17087263 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_high_with_cataract_and_vitreoretinal_degeneration_patient_1.json @@ -0,0 +1,86 @@ +{ + "id": "myopia,_high,_with_cataract_and_vitreoretinal_degeneration", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032037", + "label": "Mildly reduced visual acuity" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0200071", + "label": "Peripheral vitreoretinal degeneration" + } + }, + { + "type": { + "id": "HP:0001132", + "label": "Lens subluxation" + } + }, + { + "type": { + "id": "HP:0011003", + "label": "High myopia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0007992", + "label": "Lattice retinal degeneration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614292", + "label": "Myopia, high, with cataract and vitreoretinal degeneration" + } + } + ], + "metaData": { + "created": "2024-06-12T02:15:19.900582Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_infantile_severe_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_infantile_severe_patient_1.json new file mode 100644 index 000000000..4627c98ea --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myopia_infantile_severe_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "myopia,_infantile_severe", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:255500", + "label": "Myopia, infantile severe" + } + } + ], + "metaData": { + "created": "2024-06-11T22:01:05.510589Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myosclerosis_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myosclerosis_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..977024380 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myosclerosis_autosomal_recessive_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "myosclerosis,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0001771", + "label": "Achilles tendon contracture" + } + }, + { + "type": { + "id": "HP:0002944", + "label": "Thoracolumbar scoliosis" + } + }, + { + "type": { + "id": "HP:0002938", + "label": "Lumbar hyperlordosis" + } + }, + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:255600", + "label": "Myosclerosis, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T23:51:11.073693Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myotonia_congenita_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myotonia_congenita_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..3322a5ea4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myotonia_congenita_autosomal_dominant_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "myotonia_congenita,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003730", + "label": "EMG: myotonic runs" + } + }, + { + "type": { + "id": "HP:0003740", + "label": "Myotonia with warm-up phenomenon" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:160800", + "label": "Myotonia congenita, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T18:28:37.432370Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myotonia_congenita_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myotonia_congenita_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..9cd56dba5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myotonia_congenita_autosomal_recessive_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "myotonia_congenita,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003740", + "label": "Myotonia with warm-up phenomenon" + } + }, + { + "type": { + "id": "HP:0003730", + "label": "EMG: myotonic runs" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:255700", + "label": "Myotonia congenita, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T22:32:50.543329Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myotonia_potassium_aggravated_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myotonia_potassium_aggravated_patient_1.json new file mode 100644 index 000000000..23bd86342 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myotonia_potassium_aggravated_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "myotonia,_potassium-aggravated", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002486", + "label": "Myotonia" + } + }, + { + "type": { + "id": "HP:0010548", + "label": "Percussion myotonia" + } + }, + { + "type": { + "id": "HP:0005949", + "label": "Apneic episodes in infancy" + } + }, + { + "type": { + "id": "HP:0003326", + "label": "Myalgia" + } + }, + { + "type": { + "id": "HP:0025425", + "label": "Laryngospasm" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608390", + "label": "Myotonia, potassium-aggravated" + } + } + ], + "metaData": { + "created": "2024-06-11T21:14:50.323119Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Myotonia_with_skeletal_abnormalities_and_mental_retardation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myotonia_with_skeletal_abnormalities_and_mental_retardation_patient_1.json new file mode 100644 index 000000000..089ae43fd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Myotonia_with_skeletal_abnormalities_and_mental_retardation_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "myotonia_with_skeletal_abnormalities_and_mental_retardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001591", + "label": "Bell-shaped thorax" + } + }, + { + "type": { + "id": "HP:0002486", + "label": "Myotonia" + } + }, + { + "type": { + "id": "HP:0000917", + "label": "Superior pectus carinatum" + } + }, + { + "type": { + "id": "HP:0008981", + "label": "Calf muscle hypertrophy" + } + }, + { + "type": { + "id": "HP:0006500", + "label": "Abnormal lower limb epiphysis morphology" + } + }, + { + "type": { + "id": "HP:0003312", + "label": "Abnormal form of the vertebral bodies" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:255710", + "label": "Myotonia with skeletal abnormalities and mental retardation" + } + } + ], + "metaData": { + "created": "2024-06-11T21:11:00.711509Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + 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Sa-de Vries syndrome, type 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:15:10.700111Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nabais_Sa_de_vries_syndrome_type_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nabais_Sa_de_vries_syndrome_type_2_patient_1.json new file mode 100644 index 000000000..124884444 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nabais_Sa_de_vries_syndrome_type_2_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "nabais_sa-de_vries_syndrome,_type_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000426", + "label": "Prominent nasal bridge" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0000637", + "label": "Long palpebral fissure" + } + }, + { + "type": { + "id": "HP:0000411", + "label": "Protruding ear" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0008237", + "label": "Hypothalamic hypothyroidism" + } + }, + { + "type": { + "id": "HP:0000414", + "label": "Bulbous nose" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0002077", + "label": "Migraine with aura" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Naegeli_Franceschetti_Jadassohn_syndrome_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "naegeli-franceschetti-jadassohn_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000670", + "label": "Carious teeth" + } + }, + { + "type": { + "id": "HP:0011368", + "label": "Epidermal thickening" + } + }, + { + "type": { + "id": "HP:0007588", + "label": "Reticular hyperpigmentation" + } + }, + { + "type": { + "id": "HP:0007550", + "label": "Hypohidrosis or hyperhidrosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:161000", + "label": "Naegeli-Franceschetti-Jadassohn syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:24:38.977062Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nail_disorder_nonsyndromic_congenital_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nail_disorder_nonsyndromic_congenital_3_patient_1.json new file mode 100644 index 000000000..57ac26752 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nail_disorder_nonsyndromic_congenital_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "nail_disorder,_nonsyndromic_congenital,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001820", + "label": "Leukonychia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:151600", + "label": "Nail disorder, nonsyndromic congenital, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T18:57:22.301328Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nail_disorder_nonsyndromic_congenital_8_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "nail_disorder,_nonsyndromic_congenital,_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001810", + "label": "Dystrophic toenail" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607523", + "label": "Nail disorder, nonsyndromic congenital, 8" + } + } + ], + "metaData": { + "created": "2024-06-11T20:21:10.676361Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nail_disorder_nonsyndromic_congenital_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nail_disorder_nonsyndromic_congenital_9_patient_1.json new file mode 100644 index 000000000..4282e5e5e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nail_disorder_nonsyndromic_congenital_9_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "nail_disorder,_nonsyndromic_congenital,_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001802", + "label": "Absent toenail" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614149", + "label": "Nail disorder, nonsyndromic congenital, 9" + } + } + ], + "metaData": { + "created": "2024-06-11T19:23:47.985197Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": 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"label": "Intellectual disability, moderate" + } + }, + { + "type": { + "id": "HP:0011092", + "label": "Mulberry molar" + } + }, + { + "type": { + "id": "HP:0000501", + "label": "Glaucoma" + } + }, + { + "type": { + "id": "HP:0001500", + "label": "Broad finger" + } + }, + { + "type": { + "id": "HP:0000426", + "label": "Prominent nasal bridge" + } + }, + { + "type": { + "id": "HP:0000717", + "label": "Autism" + } + }, + { + "type": { + "id": "HP:0000448", + "label": "Prominent nose" + } + }, + { + "type": { + "id": "HP:0000699", + "label": "Diastema" + } + }, + { + "type": { + "id": "HP:0000275", + "label": "Narrow face" + } + }, + { + "type": { + "id": "HP:0006482", + "label": "Abnormal dental morphology" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:302350", + "label": "Nance-Horan syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:20:41.528896Z", + "createdBy": 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0007633", + "label": "Bilateral microphthalmos" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600165", + "label": "Nanophthalmos 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:32:52.187188Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nanophthalmos_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nanophthalmos_2_patient_1.json new file mode 100644 index 000000000..7835e7c82 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nanophthalmos_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "nanophthalmos_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609549", + "label": "Nanophthalmos 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:12:52.369423Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nanophthalmos_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nanophthalmos_4_patient_1.json new file mode 100644 index 000000000..f880a5d65 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nanophthalmos_4_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "nanophthalmos_4", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P58Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615972", + "label": "Nanophthalmos 4" + } + } + ], + "metaData": { + "created": "2024-06-11T19:02:27.826806Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Narcolepsy_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Narcolepsy_1_patient_1.json new file mode 100644 index 000000000..519777673 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Narcolepsy_1_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "narcolepsy_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002524", + "label": "Cataplexy" + } + }, + { + "type": { + "id": "HP:0001262", + "label": "Excessive daytime somnolence" + } + }, + { + "type": { + "id": "HP:5200293", + "label": "Disturbance during transitions between sleep and wake states" + } + }, + { + "type": { + "id": "HP:0006896", + "label": "Hypnopompic hallucination" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:161400", + "label": "Narcolepsy 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:54:53.086176Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Narcolepsy_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Narcolepsy_3_patient_1.json new file mode 100644 index 000000000..853ed011e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Narcolepsy_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "narcolepsy_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:5200287", + "label": "Nightmares" + } + }, + { + "type": { + "id": "HP:0002360", + "label": "Sleep abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609039", + "label": "Narcolepsy 3" + } + } + ], + "metaData": { + "created": "2024-06-11T23:16:52.330996Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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+ "id": "HP:0001513", + "label": "Obesity" + } + }, + { + "type": { + "id": "HP:0030050", + "label": "Narcolepsy" + } + }, + { + "type": { + "id": "HP:0002524", + "label": "Cataplexy" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011462", + "label": "Young adult onset" + } + } + }, + { + "type": { + "id": "HP:0001262", + "label": "Excessive daytime somnolence" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011462", + "label": "Young adult onset" + } + } + }, + { + "type": { + "id": "HP:0002360", + "label": "Sleep abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614250", + "label": "Narcolepsy 7" + } + } + ], + "metaData": { + "created": "2024-06-12T00:49:59.770278Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nasal_alar_collapse_bilateral_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nasal_alar_collapse_bilateral_patient_1.json new file mode 100644 index 000000000..a596a10bd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nasal_alar_collapse_bilateral_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "nasal_alar_collapse,_bilateral", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000271", + "label": "Abnormality of the face" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:161470", + "label": "Nasal alar collapse, bilateral" + } + } + ], + "metaData": { + "created": "2024-06-11T18:15:16.957311Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nasal_bones_absence_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nasal_bones_absence_of_patient_1.json new file mode 100644 index 000000000..c8a5ff57a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nasal_bones_absence_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "nasal_bones,_absence_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009933", + "label": "Narrow naris" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:161480", + "label": "Nasal bones, absence of" + } + } + ], + "metaData": { + "created": "2024-06-12T00:32:14.768159Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nasal_groove_familial_transverse_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nasal_groove_familial_transverse_patient_1.json new file mode 100644 index 000000000..8fee9ff28 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nasal_groove_familial_transverse_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "nasal_groove,_familial_transverse", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000271", + "label": "Abnormality of the face" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:161500", + "label": "Nasal groove, familial transverse" + } + } + ], + "metaData": { + "created": "2024-06-11T18:50:57.997064Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nasal_hyperpigmentation_familial_transverse_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nasal_hyperpigmentation_familial_transverse_patient_1.json new file mode 100644 index 000000000..01c105191 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nasal_hyperpigmentation_familial_transverse_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "nasal_hyperpigmentation,_familial_transverse", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000953", + "label": "Hyperpigmentation of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:161530", + "label": "Nasal hyperpigmentation, familial transverse" + } + } + ], + "metaData": { + "created": "2024-06-11T23:24:49.178216Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nasopalpebral_lipoma_coloboma_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nasopalpebral_lipoma_coloboma_syndrome_patient_1.json new file mode 100644 index 000000000..2c147efbe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nasopalpebral_lipoma_coloboma_syndrome_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "nasopalpebral_lipoma-coloboma_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000652", + "label": "Lower eyelid coloboma" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0000349", + "label": "Widow's peak" + } + }, + { + "type": { + "id": "HP:0000506", + "label": "Telecanthus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:167730", + "label": "Nasopalpebral lipoma-coloboma syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:41:18.821230Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nasopharyngeal_carcinoma_patient_2.json @@ -0,0 +1,45 @@ +{ + "id": "nasopharyngeal_carcinoma", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100630", + "label": "Neoplasia of the nasopharynx" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607107", + "label": "Nasopharyngeal carcinoma" + } + } + ], + "metaData": { + "created": "2024-06-11T22:14:33.866997Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nasopharyngeal_carcinoma_susceptibility_to_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nasopharyngeal_carcinoma_susceptibility_to_3_patient_1.json new file mode 100644 index 000000000..6e1e7b0aa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nasopharyngeal_carcinoma_susceptibility_to_3_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "nasopharyngeal_carcinoma,_susceptibility_to,_3", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P25Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100630", + "label": "Neoplasia of the nasopharynx" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011462", + "label": "Young adult onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617075", + "label": "Nasopharyngeal carcinoma, 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Natal_teeth_intestinal_pseudoobstruction_patent_ductus_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "natal_teeth_-_intestinal_pseudoobstruction_-_patent_ductus", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000695", + "label": "Natal tooth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:243185", + "label": "Natal teeth - intestinal pseudoobstruction - patent ductus" + } + } + ], + "metaData": { + "created": "2024-06-11T19:38:58.556910Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nathalie_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nathalie_syndrome_patient_1.json new file mode 100644 index 000000000..b90c34d76 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nathalie_syndrome_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "nathalie_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000119", + "label": "Abnormality of the genitourinary system" + } + }, + { + "type": { + "id": "HP:0003115", + "label": "Abnormal EKG" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:255990", + "label": "Nathalie syndrome" + } + } + ], + "metaData": { + "created": 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"id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001030", + "label": "Fragile skin" + } + }, + { + "type": { + "id": "HP:0100792", + "label": "Acantholysis" + } + }, + { + "type": { + "id": "HP:0002224", + "label": "Woolly hair" + } + }, + { + "type": { + "id": "HP:0008066", + "label": "Abnormal blistering of the skin" + } + }, + { + "type": { + "id": "HP:0002224", + "label": "Woolly hair" + } + }, + { + "type": { + "id": "HP:0011663", + "label": "Right ventricular cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0025092", + "label": "Epidermal acanthosis" + } + }, + { + "type": { + "id": "HP:0008392", + "label": "Subungual hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0031193", + "label": "Abnormal morphology of right ventricular trabeculae" + } + }, + { + "type": { + "id": "HP:0001279", + "label": "Syncope" + } + }, + { + "type": { + "id": "HP:0006682", + "label": "Premature ventricular contraction" + } + }, + { + "type": { + "id": "HP:0008404", 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"namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Necrotizing_encephalomyelopathy_subacute_of_leigh_adult_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Necrotizing_encephalomyelopathy_subacute_of_leigh_adult_patient_1.json new file mode 100644 index 000000000..56a25303e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Necrotizing_encephalomyelopathy_subacute_of_leigh_adult_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "necrotizing_encephalomyelopathy,_subacute,_of_leigh,_adult", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008074", + "label": "Metatarsal periosteal thickening" + } + }, + { + "type": { + "id": "HP:0002653", + "label": "Bone pain" + } + }, + { + "type": { + "id": "HP:0006465", + "label": "Periosteal thickening of long tubular bones" + } + }, + { + "type": { + "id": "HP:0005059", + "label": "Arthralgia/arthritis" + } + }, + { + "type": { + "id": "HP:0002592", + "label": "Gastric ulcer" + } + }, + { + "type": { + "id": "HP:0000339", + "label": "Pugilistic facies" + } + }, + { + "type": { + "id": "HP:0007911", + "label": "Congenital bilateral ptosis" + } + }, + { + "type": { + "id": "HP:0001965", + "label": "Abnormal scalp morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:161700", + "label": "Necrotizing encephalomyelopathy, subacute, of leigh, adult" + } + } + ], + "metaData": { + "created": "2024-06-11T18:59:13.049457Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"diseases": [ + { + "term": { + "id": "OMIM:616165", + "label": "Nemaline myopathy 10" + } + } + ], + "metaData": { + "created": "2024-06-11T19:37:35.529644Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nemaline_myopathy_11_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nemaline_myopathy_11_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..491811b3e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nemaline_myopathy_11_autosomal_recessive_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "nemaline_myopathy_11,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003798", + "label": "Nemaline bodies" + } + }, + { + "type": { + "id": "HP:0010628", + "label": "Facial palsy" + } + }, + { + "type": { + "id": "HP:0003704", + "label": "Scapuloperoneal weakness" + } + }, + { + "type": { + "id": "HP:0002515", + "label": "Waddling gait" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617336", + "label": "Nemaline myopathy 11, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T21:02:03.434941Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nemaline_myopathy_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nemaline_myopathy_1_patient_1.json new file mode 100644 index 000000000..1203e2cfc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nemaline_myopathy_1_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "nemaline_myopathy_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0009053", + "label": "Distal lower limb muscle weakness" + } + 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"http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nemaline_myopathy_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nemaline_myopathy_8_patient_1.json new file mode 100644 index 000000000..b000a86c5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nemaline_myopathy_8_patient_1.json @@ -0,0 +1,74 @@ +{ + "id": "nemaline_myopathy_8", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011471", + "label": "Gastrostomy tube feeding in infancy" + }, + "onset": { + "ontologyClass": { + 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"2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nemaline_myopathy_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nemaline_myopathy_9_patient_1.json new file mode 100644 index 000000000..f66604b50 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nemaline_myopathy_9_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "nemaline_myopathy_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0001324", + "label": "Muscle weakness" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0002093", + "label": "Respiratory insufficiency" + } + }, + { + "type": { + "id": "HP:0003798", + "label": "Nemaline bodies" + } + } + ], + "diseases": [ + { + 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100644 index 000000000..4b467b3f9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrogenic_diabetes_insipidus_intracranial_calcification_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "nephrogenic_diabetes_insipidus_-_intracranial_calcification", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:221995", + "label": "Nephrogenic diabetes insipidus - intracranial calcification" + } + } + ], + "metaData": { + "created": "2024-06-11T18:49:01.338091Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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mode 100644 index 000000000..ab900e55a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrolithiasis_calcium_oxalate_2_with_nephrocalcinosis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "nephrolithiasis,_calcium_oxalate,_2,_with_nephrocalcinosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000121", + "label": "Nephrocalcinosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620374", + "label": "Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis" + } + } + ], + "metaData": { + "created": "2024-06-11T20:27:27.454059Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrolithiasis_osteoporosis_hypophosphatemic_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "nephrolithiasis/osteoporosis,_hypophosphatemic,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003109", + "label": "Hyperphosphaturia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612286", + "label": "Nephrolithiasis/osteoporosis, hypophosphatemic, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:52:44.588721Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrolithiasis_osteoporosis_hypophosphatemic_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrolithiasis_osteoporosis_hypophosphatemic_2_patient_1.json new file mode 100644 index 000000000..1d7a6926e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrolithiasis_osteoporosis_hypophosphatemic_2_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "nephrolithiasis/osteoporosis,_hypophosphatemic,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003109", + "label": "Hyperphosphaturia" + } + }, + { + "type": { + "id": "HP:0000117", + "label": "Renal phosphate wasting" + } + }, + { + "type": { + "id": "HP:0002148", + "label": "Hypophosphatemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612287", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrolithiasis_type_I_patient_1.json @@ -0,0 +1,74 @@ +{ + "id": "nephrolithiasis,_type_i", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P37Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003126", + "label": "Low-molecular-weight proteinuria" + } + }, + { + "type": { + "id": "HP:0002907", + "label": "Microscopic hematuria" + } + }, + { + "type": { + "id": "HP:0000092", + "label": "Renal tubular atrophy" + } + }, + { + "type": { + "id": "HP:0000121", + "label": "Nephrocalcinosis" + } + }, + { + "type": { + "id": "HP:0002150", + "label": "Hypercalciuria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:310468", + "label": "Nephrolithiasis, type I" + } + } + ], + "metaData": { + "created": "2024-06-11T19:52:18.768746Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"type": { + "id": "HP:0000090", + "label": "Nephronophthisis" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0001959", + "label": "Polydipsia" + } + }, + { + "type": { + "id": "HP:0025586", + "label": "Hypertropia" + } + }, + { + "type": { + "id": "HP:0012852", + "label": "Hepatic bridging fibrosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613550", + "label": "Nephronophthisis 11" + } + } + ], + "metaData": { + "created": "2024-06-11T19:30:26.736179Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_12_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_12_patient_1.json new file mode 100644 index 000000000..7c1af43b3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_12_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "nephronophthisis_12", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613820", + "label": "Nephronophthisis 12" + } + } + ], + "metaData": { + "created": "2024-06-11T21:04:06.682792Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_13_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_13_patient_1.json new file mode 100644 index 000000000..484887e1e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_13_patient_1.json @@ -0,0 +1,116 @@ +{ + "id": "nephronophthisis_13", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + } + }, + { + "type": { + "id": "HP:0001407", + "label": "Hepatic cysts" + } + }, + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0000089", + "label": "Renal hypoplasia" + } + }, + { + "type": { + "id": "HP:0033601", + "label": "Glomerular subepithelial immune-complex deposits" + } + }, + { + "type": { + "id": "HP:0033149", + "label": "Intrahepatic bile duct dilatation" + } + }, + { + "type": { + "id": "HP:0000093", + "label": "Proteinuria" + } + }, + { + "type": { + "id": "HP:0001737", + "label": "Pancreatic cysts" + } + }, + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + } + }, + { + "type": { + "id": "HP:0011035", + "label": "Abnormal renal cortex morphology" + } + }, + { + "type": { + "id": "HP:0033867", + "label": "Multilamellation of medullary peritubular capillary basement membranes" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614377", + "label": "Nephronophthisis 13" + } + } + ], + "metaData": { + "created": "2024-06-11T19:26:06.611262Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_14_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_14_patient_1.json new file mode 100644 index 000000000..9931166bd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_14_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "nephronophthisis_14", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001696", + "label": "Situs inversus totalis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614844", + "label": "Nephronophthisis 14" + } + } + ], + "metaData": { + "created": "2024-06-11T18:54:03.880481Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_15_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_15_patient_1.json new file mode 100644 index 000000000..8db780b4f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_15_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "nephronophthisis_15", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001513", + "label": "Obesity" + } + }, + { + "type": { + "id": "HP:0000546", + "label": "Retinal degeneration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614845", + "label": "Nephronophthisis 15" + } + } + ], + "metaData": { + "created": "2024-06-11T18:34:49.544767Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_16_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_16_patient_1.json new file mode 100644 index 000000000..73a3ebc15 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_16_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "nephronophthisis_16", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001643", + "label": "Patent ductus arteriosus" + } + }, + { + "type": { + "id": "HP:0000113", + "label": "Polycystic kidney dysplasia" + } + }, + { + "type": { + "id": "HP:0000083", + "label": "Renal insufficiency" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615382", + "label": "Nephronophthisis 16" + } + } + ], + "metaData": { + "created": "2024-06-11T17:55:12.886166Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_18_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_18_patient_1.json new file mode 100644 index 000000000..285e97b07 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_18_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "nephronophthisis_18", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P3Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0032952", + "label": "Usual-type tubular atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615862", + "label": "Nephronophthisis 18" + } + } + ], + "metaData": { + "created": "2024-06-11T20:05:14.138926Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_19_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_19_patient_1.json new file mode 100644 index 000000000..f0432e9c7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_19_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "nephronophthisis_19", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001744", + "label": "Splenomegaly" + } + }, + { + "type": { + "id": "HP:0004719", + "label": "Hyperechogenic kidneys" + } + }, + { + "type": { + "id": "HP:0006575", + "label": "Intrahepatic cholestasis with episodic jaundice" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616217", + "label": "Nephronophthisis 19" + } + } + ], + "metaData": { + "created": "2024-06-11T20:43:16.548197Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_1_patient_1.json new file mode 100644 index 000000000..2348e6dbc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_1_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "nephronophthisis_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033358", + "label": "Abnormal urine osmolality" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0020131", + "label": "Abnormal tubular basement membrane morphology" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0025453", + "label": "Delayed adrenarche" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:256100", + "label": "Nephronophthisis 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:58:23.867579Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_20_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_20_patient_1.json new file mode 100644 index 000000000..e10342571 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_20_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "nephronophthisis_20", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012211", + "label": "Abnormal renal physiology" + } + }, + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + } + }, + { + "type": { + "id": "HP:0000090", + "label": "Nephronophthisis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617271", + "label": "Nephronophthisis 20" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:11.064551Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_2_patient_1.json new file mode 100644 index 000000000..73f794186 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_2_patient_1.json @@ -0,0 +1,104 @@ +{ + "id": "nephronophthisis_2", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002878", + "label": "Respiratory failure" + } + }, + { + "type": { + "id": "HP:0004743", + "label": "Chronic tubulointerstitial nephritis" + } + }, + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0003259", + "label": "Elevated circulating creatinine concentration" + } + }, + { + "type": { + "id": "HP:0005564", + "label": "Absence of renal corticomedullary differentiation" + } + }, + { + "type": { + "id": "HP:0001562", + "label": "Oligohydramnios" + } + }, + { + "type": { + "id": "HP:0004719", + "label": "Hyperechogenic kidneys" + } + }, + { + "type": { + "id": "HP:0004734", + "label": "Renal cortical microcysts" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602088", + "label": "Nephronophthisis 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:15:16.356946Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_3_patient_1.json new file mode 100644 index 000000000..6e8be8f7c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_3_patient_1.json @@ -0,0 +1,92 @@ +{ + "id": "nephronophthisis_3", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P24Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000103", + "label": "Polyuria" + } + }, + { + "type": { + "id": "HP:0000090", + "label": "Nephronophthisis" + } + }, + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0005576", + "label": "Tubulointerstitial fibrosis" + } + }, + { + "type": { + "id": "HP:0001959", + "label": "Polydipsia" + } + }, + { + "type": { + "id": "HP:0000105", + "label": "Enlarged kidney" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604387", + "label": "Nephronophthisis 3" + } + } + ], + "metaData": { + "created": "2024-06-11T21:28:55.744326Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_4_patient_1.json new file mode 100644 index 000000000..9354a44fd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_4_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "nephronophthisis_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000108", + "label": "Renal corticomedullary cysts" + } + }, + { + "type": { + "id": "HP:0000091", + "label": "Abnormal renal tubule morphology" + } + }, + { + "type": { + "id": "HP:0012575", + "label": "Abnormal nephron morphology" + } + }, + { + "type": { + "id": "HP:5200241", + "label": "Recurrent maladaptive behavior" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0008855", + "label": "Moderate postnatal growth retardation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606966", + "label": "Nephronophthisis 4" + } + } + ], + "metaData": { + "created": "2024-06-11T22:09:58.840394Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_7_patient_1.json new file mode 100644 index 000000000..ee28ca5c4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_7_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "nephronophthisis_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000090", + "label": "Nephronophthisis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611498", + "label": "Nephronophthisis 7" + } + } + ], + "metaData": { + "created": "2024-06-12T01:59:46.951403Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_9_patient_1.json new file mode 100644 index 000000000..2483cfe9a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_9_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "nephronophthisis_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613824", + "label": "Nephronophthisis 9" + } + } + ], + "metaData": { + "created": "2024-06-11T22:37:38.747050Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_Like_nephropathy_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_Like_nephropathy_1_patient_1.json new file mode 100644 index 000000000..a5356e67c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_Like_nephropathy_1_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "nephronophthisis-like_nephropathy_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000092", + "label": "Renal tubular atrophy" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0030972", + "label": "Abnormal systemic blood pressure" + } + }, + { + "type": { + "id": "HP:0012211", + "label": "Abnormal renal physiology" + } + }, + { + "type": { + "id": "HP:0000091", + "label": "Abnormal renal tubule morphology" + } + }, + { + "type": { + "id": "HP:0033130", + "label": "Abnormal renal echogenicity" + } + }, + { + "type": { + "id": "HP:0002080", + "label": "Intention tremor" + } + }, + { + "type": { + "id": "HP:0100957", + "label": "Abnormal renal medulla morphology" + } + }, + { + "type": { + "id": "HP:0000108", + "label": "Renal corticomedullary cysts" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613159", + "label": "Nephronophthisis-Like nephropathy 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:39:22.943224Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_like_nephropathy_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_like_nephropathy_2_patient_1.json new file mode 100644 index 000000000..8cf89ca5a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephronophthisis_like_nephropathy_2_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "nephronophthisis-like_nephropathy_2", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P15Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003259", + "label": "Elevated circulating creatinine concentration" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619468", + "label": "Nephronophthisis-like nephropathy 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:40:18.277709Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephropathy_due_to_CFHR5_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephropathy_due_to_CFHR5_deficiency_patient_1.json new file mode 100644 index 000000000..07fe44d9e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephropathy_due_to_CFHR5_deficiency_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "nephropathy_due_to_cfhr5_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025005", + "label": "Thickening of glomerular capillary wall" + } + }, + { + "type": { + "id": "HP:0012576", + "label": "Glomerular C3 deposition" + } + }, + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + } + }, + { + "type": { + "id": "HP:0004746", + "label": "Glomerular subendothelial electron-dense deposits" + } + }, + { + "type": { + "id": "HP:0000099", + "label": "Glomerulonephritis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614809", + "label": "Nephropathy due to CFHR5 deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T19:43:23.515803Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephropathy_progressive_tubulointerstitial_with_cholestatic_liverdisease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephropathy_progressive_tubulointerstitial_with_cholestatic_liverdisease_patient_1.json new file mode 100644 index 000000000..8c863dd86 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephropathy_progressive_tubulointerstitial_with_cholestatic_liverdisease_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "nephropathy,_progressive_tubulointerstitial,_with_cholestatic_liverdisease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002611", + "label": "Cholestatic liver disease" + } + }, + { + "type": { + "id": "HP:0031964", + "label": "Elevated circulating alanine aminotransferase concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602114", + "label": "Nephropathy, progressive tubulointerstitial, with cholestatic liverdisease" + } + } + ], + "metaData": { + "created": "2024-06-11T20:49:13.202749Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephropathy_with_pretibial_epidermolysis_bullosa_and_deafness_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephropathy_with_pretibial_epidermolysis_bullosa_and_deafness_patient_1.json new file mode 100644 index 000000000..9d346168d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephropathy_with_pretibial_epidermolysis_bullosa_and_deafness_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "nephropathy_with_pretibial_epidermolysis_bullosa_and_deafness", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007678", + "label": "Lacrimal duct stenosis" + } + }, + { + "type": { + "id": "HP:0033485", + "label": "Glomerular basement membrane disruption" + } + }, + { + "type": { + "id": "HP:0004722", + "label": "Thickened glomerular basement membrane" + } + }, + { + "type": { + "id": "HP:0012221", + "label": "Pretibial blistering" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609057", + "label": "Nephropathy with pretibial epidermolysis bullosa and deafness" + } + } + ], + "metaData": { + "created": "2024-06-11T20:28:41.517675Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrosis_with_deafness_and_urinary_tract_and_digital_malformations_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrosis_with_deafness_and_urinary_tract_and_digital_malformations_patient_1.json new file mode 100644 index 000000000..f0e073074 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrosis_with_deafness_and_urinary_tract_and_digital_malformations_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "nephrosis_with_deafness_and_urinary_tract_and_digital_malformations", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009611", + "label": "Bifid distal phalanx of the thumb" + } + }, + { + "type": { + "id": "HP:0000100", + "label": "Nephrotic syndrome" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:256200", + "label": "Nephrosis with deafness and urinary tract and digital malformations" + } + } + ], + "metaData": { + "created": "2024-06-11T20:54:36.349458Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_11_patient_1.json new file mode 100644 index 000000000..bf65a6291 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_11_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "nephrotic_syndrome,_type_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000341", + "label": "Narrow forehead" + } + }, + { + "type": { + "id": "HP:0000794", + "label": "IgA deposition in the glomerulus" + } + }, + { + "type": { + "id": "HP:0001638", + "label": "Cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + }, + { + "type": { + "id": "HP:0000097", + "label": "Focal segmental glomerulosclerosis" + } + }, + { + "type": { + "id": "HP:0003124", + "label": "Hypercholesterolemia" + } + }, + { + "type": { + "id": "HP:0011625", + "label": "Multiple muscular ventricular septal defects" + } + }, + { + "type": { + "id": "HP:0003073", + "label": "Hypoalbuminemia" + } + }, + { + "type": { + "id": "HP:0003778", + "label": "Short mandibular rami" + } + }, + { + "type": { + "id": "HP:0009611", + "label": "Bifid distal phalanx of the thumb" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616730", + "label": "Nephrotic syndrome, type 11" + } + } + ], + "metaData": { + "created": "2024-06-12T02:24:19.607330Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_12_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_12_patient_1.json new file mode 100644 index 000000000..7ba180887 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_12_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "nephrotic_syndrome,_type_12", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000097", + "label": "Focal segmental glomerulosclerosis" + } + }, + { + "type": { + "id": "HP:0012588", + "label": "Steroid-resistant nephrotic syndrome" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616892", + "label": "Nephrotic syndrome, type 12" + } + } + ], + "metaData": { + "created": "2024-06-11T18:17:20.984471Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_13_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_13_patient_1.json new file mode 100644 index 000000000..0f7997bea --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_13_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "nephrotic_syndrome,_type_13", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000097", + "label": "Focal segmental glomerulosclerosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616893", + "label": "Nephrotic syndrome, type 13" + } + } + ], + "metaData": { + "created": "2024-06-11T18:21:57.284547Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_14_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_14_patient_1.json new file mode 100644 index 000000000..478e7205b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_14_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "nephrotic_syndrome,_type_14", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000093", + "label": "Proteinuria" + } + }, + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + } + }, + { + "type": { + "id": "HP:0000026", + "label": "Male hypogonadism" + } + }, + { + "type": { + "id": "HP:0000969", + "label": "Edema" + } + }, + { + "type": { + "id": "HP:0000846", + "label": "Adrenal insufficiency" + } + }, + { + "type": { + "id": "HP:0000821", + "label": "Hypothyroidism" + } + }, + { + "type": { + "id": "HP:0012211", + "label": "Abnormal renal physiology" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0001967", + "label": "Diffuse mesangial sclerosis" + } + }, + { + "type": { + "id": "HP:0001998", + "label": "Neonatal hypoglycemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617575", + "label": "Nephrotic syndrome, type 14" + } + } + ], + "metaData": { + "created": "2024-06-11T23:15:54.165427Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_15_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_15_patient_1.json new file mode 100644 index 000000000..2163da835 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_15_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "nephrotic_syndrome,_type_15", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + } + }, + { + "type": { + "id": "HP:0000093", + "label": "Proteinuria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617609", + "label": "Nephrotic syndrome, type 15" + } + } + ], + "metaData": { + "created": "2024-06-11T17:45:12.432639Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_16_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_16_patient_1.json new file mode 100644 index 000000000..19dff7b33 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_16_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "nephrotic_syndrome,_type_16", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000093", + "label": "Proteinuria" + } + }, + { + "type": { + "id": "HP:0008677", + "label": "Congenital nephrotic syndrome" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617783", + "label": "Nephrotic syndrome, type 16" + } + } + ], + "metaData": { + "created": "2024-06-11T17:59:05.792598Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_17_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_17_patient_1.json new file mode 100644 index 000000000..9b845f016 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_17_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "nephrotic_syndrome,_type_17", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012588", + "label": "Steroid-resistant nephrotic syndrome" + } + }, + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + } + }, + { + "type": { + "id": "HP:0002907", + "label": "Microscopic hematuria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618176", + "label": "Nephrotic syndrome, type 17" + } + } + ], + "metaData": { + "created": "2024-06-11T19:57:44.939458Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_18_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_18_patient_1.json new file mode 100644 index 000000000..280fe461e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_18_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "nephrotic_syndrome,_type_18", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618177", + "label": "Nephrotic syndrome, type 18" + } + } + ], + "metaData": { + "created": "2024-06-11T20:02:06.501411Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_19_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_19_patient_1.json new file mode 100644 index 000000000..ec1382b26 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_19_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "nephrotic_syndrome,_type_19", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000093", + "label": "Proteinuria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618178", + "label": "Nephrotic syndrome, type 19" + } + } + ], + "metaData": { + "created": "2024-06-11T22:30:20.275301Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_1_patient_1.json new file mode 100644 index 000000000..8de8a534c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_1_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "nephrotic_syndrome,_type_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003270", + "label": "Abdominal distention" + } + }, + { + "type": { + "id": "HP:0008360", + "label": "Neonatal hypoproteinemia" + } + }, + { + "type": { + "id": "HP:0000851", + "label": "Congenital hypothyroidism" + } + }, + { + "type": { + "id": "HP:0000969", + "label": "Edema" + } + }, + { + "type": { + "id": "HP:0008846", + "label": "Severe intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0004713", + "label": "Reversible renal failure" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0002021", + "label": "Pyloric stenosis" + } + }, + { + "type": { + "id": "HP:0032608", + "label": "Thyroidization-type tubular atrophy" + } + }, + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + }, + { + "type": { + "id": "HP:0011110", + "label": "Recurrent tonsillitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:256300", + "label": "Nephrotic syndrome, type 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:50:45.850351Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_20_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_20_patient_1.json new file mode 100644 index 000000000..9bcaa9d94 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_20_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "nephrotic_syndrome,_type_20", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000093", + "label": "Proteinuria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301028", + "label": "Nephrotic syndrome, type 20" + } + } + ], + "metaData": { + "created": "2024-06-11T20:10:42.230858Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_21_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_21_patient_1.json new file mode 100644 index 000000000..b4bcb11fe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_21_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "nephrotic_syndrome,_type_21", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618594", + "label": "Nephrotic syndrome, type 21" + } + } + ], + "metaData": { + "created": "2024-06-11T22:10:10.052061Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_22_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_22_patient_1.json new file mode 100644 index 000000000..bbf140953 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_22_patient_1.json @@ -0,0 +1,86 @@ +{ + "id": "nephrotic_syndrome,_type_22", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P13Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007430", + "label": "Generalized edema" + } + }, + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0004722", + "label": "Thickened glomerular basement membrane" + } + }, + { + "type": { + "id": "HP:0000096", + "label": "Glomerular sclerosis" + } + }, + { + "type": { + "id": "HP:0008360", + "label": "Neonatal hypoproteinemia" + } + }, + { + "type": { + "id": "HP:0000093", + "label": "Proteinuria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619155", + "label": "Nephrotic syndrome, type 22" + } + } + ], + "metaData": { + "created": "2024-06-11T18:11:19.861666Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_23_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_23_patient_1.json new file mode 100644 index 000000000..c809c4448 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_23_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "nephrotic_syndrome,_type_23", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000093", + "label": "Proteinuria" + } + }, + { + "type": { + "id": "HP:0012574", + "label": "Mesangial hypercellularity" + } + }, + { + "type": { + "id": "HP:0012588", + "label": "Steroid-resistant nephrotic syndrome" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619201", + "label": "Nephrotic syndrome, type 23" + } + } + ], + "metaData": { + "created": "2024-06-11T22:51:30.483724Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_24_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_24_patient_1.json new file mode 100644 index 000000000..f70fea2ea --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_24_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "nephrotic_syndrome,_type_24", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012588", + "label": "Steroid-resistant nephrotic syndrome" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619263", + "label": "Nephrotic syndrome, type 24" + } + } + ], + "metaData": { + "created": "2024-06-11T21:16:55.201147Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_26_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_26_patient_1.json new file mode 100644 index 000000000..2703afe12 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_26_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "nephrotic_syndrome,_type_26", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000100", + "label": "Nephrotic syndrome" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620049", + "label": "Nephrotic syndrome, type 26" + } + } + ], + "metaData": { + "created": "2024-06-11T18:52:00.570220Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_2_patient_1.json new file mode 100644 index 000000000..e51ce6d22 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "nephrotic_syndrome,_type_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + }, + { + "type": { + "id": "HP:0000095", + "label": "Abnormal renal glomerulus morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600995", + "label": "Nephrotic syndrome, type 2" + } + } + ], + "metaData": { + "created": "2024-06-11T17:54:19.953767Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_3_patient_1.json new file mode 100644 index 000000000..58d5522f5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_3_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "nephrotic_syndrome,_type_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001967", + "label": "Diffuse mesangial sclerosis" + } + }, + { + "type": { + "id": "HP:0000100", + "label": "Nephrotic syndrome" + } + }, + { + "type": { + "id": "HP:0000097", + "label": "Focal segmental glomerulosclerosis" + } + }, + { + "type": { + "id": "HP:0010880", + "label": "Increased nuchal translucency" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610725", + "label": "Nephrotic syndrome, type 3" + } + } + ], + "metaData": { + "created": "2024-06-11T22:07:51.653926Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_4_patient_1.json new file mode 100644 index 000000000..00dbbc3c3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "nephrotic_syndrome,_type_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000083", + "label": "Renal insufficiency" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:256370", + "label": "Nephrotic syndrome, type 4" + } + } + ], + "metaData": { + "created": "2024-06-11T19:27:04.185453Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_5_with_or_without_ocular_abnormalities_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_5_with_or_without_ocular_abnormalities_patient_1.json new file mode 100644 index 000000000..a22ed30cc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_5_with_or_without_ocular_abnormalities_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "nephrotic_syndrome,_type_5,_with_or_without_ocular_abnormalities", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000100", + "label": "Nephrotic syndrome" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0025573", + "label": "Mild myopia" + } + }, + { + "type": { + "id": "HP:0000549", + "label": "Abnormal conjugate eye movement" + } + }, + { + "type": { + "id": "HP:0003126", + "label": "Low-molecular-weight proteinuria" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614199", + "label": "Nephrotic syndrome, type 5, with or without ocular abnormalities" + } + } + ], + "metaData": { + "created": "2024-06-11T20:37:44.152277Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_6_patient_1.json new file mode 100644 index 000000000..7824b2640 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_6_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "nephrotic_syndrome,_type_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + } + }, + { + "type": { + "id": "HP:4000058", + "label": "Glomerular proteinuria" + } + }, + { + "type": { + "id": "HP:0000095", + "label": "Abnormal renal glomerulus morphology" + } + }, + { + "type": { + "id": "HP:0008695", + "label": "Transient nephrotic syndrome" + } + }, + { + "type": { + "id": "HP:0003073", + "label": "Hypoalbuminemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614196", + "label": "Nephrotic syndrome, type 6" + } + } + ], + "metaData": { + "created": "2024-06-11T21:24:10.478340Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_7_patient_1.json new file mode 100644 index 000000000..f595f332f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_7_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "nephrotic_syndrome,_type_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012211", + "label": "Abnormal renal physiology" + } + }, + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0012211", + "label": "Abnormal renal physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615008", + "label": "Nephrotic syndrome, type 7" + } + } + ], + "metaData": { + "created": "2024-06-11T18:28:25.857386Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_8_patient_1.json new file mode 100644 index 000000000..a3b19f336 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_8_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "nephrotic_syndrome,_type_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003073", + "label": "Hypoalbuminemia" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0100704", + "label": "Cerebral visual impairment" + } + }, + { + "type": { + "id": "HP:0000100", + "label": "Nephrotic syndrome" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615244", + "label": "Nephrotic syndrome, type 8" + } + } + ], + "metaData": { + "created": "2024-06-11T20:38:42.928660Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_9_patient_1.json new file mode 100644 index 000000000..f7409d77b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nephrotic_syndrome_type_9_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "nephrotic_syndrome,_type_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012588", + "label": "Steroid-resistant nephrotic syndrome" + } + }, + { + "type": { + "id": "HP:0000097", + "label": "Focal segmental glomerulosclerosis" + } + }, + { + "type": { + "id": "HP:0012211", + "label": "Abnormal renal physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615573", + "label": "Nephrotic syndrome, type 9" + } + } + ], + "metaData": { + "created": "2024-06-11T22:41:54.678267Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nestor_Guillermo_progeria_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nestor_Guillermo_progeria_syndrome_patient_1.json new file mode 100644 index 000000000..a70c8bf16 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nestor_Guillermo_progeria_syndrome_patient_1.json @@ -0,0 +1,219 @@ +{ + "id": "nestor-guillermo_progeria_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0011703", + "label": "Sinus tachycardia" + } + }, + { + "type": { + "id": "HP:0011712", + "label": "Right bundle branch block" + } + }, + { + "type": { + "id": "HP:0001476", + "label": "Delayed closure of the anterior fontanelle" + } + }, + { + "type": { + "id": "HP:0001371", + "label": "Flexion contracture" + } + }, + { + "type": { + "id": "HP:0005585", + "label": "Spotty hyperpigmentation" + } + }, + { + "type": { + "id": "HP:0000233", + "label": "Thin vermilion border" + } + }, + { + "type": { + "id": "HP:0000520", + "label": "Proptosis" + } + }, + { + "type": { + "id": "HP:0000692", + "label": "Tooth malposition" + } + }, + { + "type": { + "id": "HP:0005120", + "label": "Abnormal cardiac atrium morphology" + } + }, + { + "type": { + "id": "HP:0002287", + "label": "Progressive alopecia" + } + }, + { + "type": { + "id": "HP:0004349", + "label": "Reduced bone mineral density" + } + }, + { + "type": { + "id": "HP:0005328", + "label": "Progeroid facial appearance" + } + }, + { + "type": { + "id": "HP:0008458", + "label": "Progressive congenital scoliosis" + } + }, + { + "type": { + "id": "HP:0033423", + "label": "Pulmonary arterial hypertension with positive acute response to NO challenge" + } + }, + { + "type": { + "id": "HP:0002987", + "label": "Elbow flexion contracture" + } + }, + { + "type": { + "id": "HP:0000534", + "label": "Abnormal eyebrow morphology" + } + }, + { + "type": { + "id": "HP:0000905", + "label": "Progressive clavicular acroosteolysis" + } + }, + { + "type": { + "id": "HP:0000839", + "label": "Pituitary dwarfism" + } + }, + { + "type": { + "id": "HP:0007776", + "label": "Sparse lower eyelashes" + } + }, + { + "type": { + "id": "HP:0003330", + "label": "Abnormal bone structure" + } + }, + { + "type": { + "id": "HP:0003330", + "label": "Abnormal bone structure" + } + }, + { + "type": { + "id": "HP:0009124", + "label": "Abnormal adipose tissue morphology" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0004492", + "label": "Widely patent fontanelles and sutures" + } + }, + { + "type": { + "id": "HP:0410219", + "label": "Hypoplasia of mandible relative to maxilla" + } + }, + { + "type": { + "id": "HP:0012443", + "label": "Abnormal brain morphology" + } + }, + { + "type": { + "id": "HP:0005445", + "label": "Enlarged posterior fossa" + } + }, + { + "type": { + "id": "HP:0010657", + "label": "Patchy reduction of bone mineral density" + } + }, + { + "type": { + "id": "HP:0000277", + "label": "Abnormal mandible morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614008", + "label": "Nestor-Guillermo progeria syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:12:48.753344Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Netherton_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Netherton_syndrome_patient_1.json new file mode 100644 index 000000000..dfc8c42d2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Netherton_syndrome_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "netherton_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100806", + "label": "Sepsis" + } + }, + { + "type": { + "id": "HP:0032061", + "label": "Hypereosinophilia" + } + }, + { + "type": { + "id": "HP:0004779", + "label": "Brittle scalp hair" + } + }, + { + "type": { + "id": "HP:0032282", 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"label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618090", + "label": "Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum" + } + } + ], + "metaData": { + "created": "2024-06-12T02:22:59.335721Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Neurodevelopmental_disorder_with_epilepsy_cataracts_feeding_difficulties_and_delayed_brain_myelination_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neurodevelopmental_disorder_with_epilepsy_cataracts_feeding_difficulties_and_delayed_brain_myelination_patient_1.json new file mode 100644 index 000000000..05204be32 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neurodevelopmental_disorder_with_epilepsy_cataracts_feeding_difficulties_and_delayed_brain_myelination_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "neurodevelopmental_disorder_with_epilepsy,_cataracts,_feeding_difficulties,_and_delayed_brain_myelination", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0002188", + "label": "Delayed CNS myelination" + } + }, + { + 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+++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neurodevelopmental_disorder_with_gait_disturbance_dysmorphic_facies_and_behavioral_abnormalities_X_linked_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "neurodevelopmental_disorder_with_gait_disturbance,_dysmorphic_facies_and_behavioral_abnormalities,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0034353", + "label": "Appendicular spasticity" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0000337", + "label": "Broad forehead" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301094", + "label": "Neurodevelopmental disorder with gait disturbance, dysmorphic facies and behavioral abnormalities, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:40.604269Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Neurodevelopmental_disorder_with_growth_retardation_dysmorphic_facies_and_corpus_callosum_abnormalities_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neurodevelopmental_disorder_with_growth_retardation_dysmorphic_facies_and_corpus_callosum_abnormalities_patient_1.json new file mode 100644 index 000000000..1a3652370 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neurodevelopmental_disorder_with_growth_retardation_dysmorphic_facies_and_corpus_callosum_abnormalities_patient_1.json @@ -0,0 +1,201 @@ +{ + "id": "neurodevelopmental_disorder_with_growth_retardation,_dysmorphic_facies,_and_corpus_callosum_abnormalities", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001562", + "label": "Oligohydramnios" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0005484", + "label": "Secondary microcephaly" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } 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} +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Neurodevelopmental_disorder_with_infantile_epileptic_spasms_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neurodevelopmental_disorder_with_infantile_epileptic_spasms_patient_1.json new file mode 100644 index 000000000..e46a49efd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neurodevelopmental_disorder_with_infantile_epileptic_spasms_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "neurodevelopmental_disorder_with_infantile_epileptic_spasms", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002194", + "label": "Delayed gross motor development" + } + }, + { + "type": { + "id": "HP:0002188", + "label": "Delayed CNS myelination" + } + }, + { + "type": { + "id": "HP:0020219", + "label": "Motor seizure" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } 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of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Neurodevelopmental_disorder_with_language_delay_and_variable_cognitive_abnormalities_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neurodevelopmental_disorder_with_language_delay_and_variable_cognitive_abnormalities_patient_1.json new file mode 100644 index 000000000..23f527baf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neurodevelopmental_disorder_with_language_delay_and_variable_cognitive_abnormalities_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "neurodevelopmental_disorder_with_language_delay_and_variable_cognitive_abnormalities", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010862", + "label": "Delayed fine motor development" + } + }, + { + "type": { + "id": "HP:0005769", + "label": "Fifth finger distal phalanx clinodactyly" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental 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+} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Neurodevelopmental_disorder_with_microcephaly_epilepsy_and_brain_atrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neurodevelopmental_disorder_with_microcephaly_epilepsy_and_brain_atrophy_patient_1.json new file mode 100644 index 000000000..a5a383803 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neurodevelopmental_disorder_with_microcephaly_epilepsy_and_brain_atrophy_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "neurodevelopmental_disorder_with_microcephaly,_epilepsy,_and_brain_atrophy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002079", + "label": "Hypoplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + } + }, + { + "type": { + "id": 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--git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Neurodevelopmental_disorder_with_microcephaly_impaired_language_epilepsy_and_gait_abnormalities_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neurodevelopmental_disorder_with_microcephaly_impaired_language_epilepsy_and_gait_abnormalities_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..95eeb7f5d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neurodevelopmental_disorder_with_microcephaly_impaired_language_epilepsy_and_gait_abnormalities_autosomal_dominant_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "neurodevelopmental_disorder_with_microcephaly,_impaired_language,_epilepsy,_and_gait_abnormalities,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000733", + "label": "Motor stereotypy" + } + 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--- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neuronopathy_distal_hereditary_motor_autosomal_dominant_11_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "neuronopathy,_distal_hereditary_motor,_autosomal_dominant_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003376", + "label": "Steppage gait" + } + }, + { + "type": { + "id": "HP:0007083", + "label": "Hyperactive patellar reflex" + } + }, + { + "type": { + "id": "HP:0000768", + "label": "Pectus carinatum" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0009053", + "label": "Distal lower limb muscle weakness" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0012452", + "label": "Restless legs" + } + }, + { + "type": { + "id": "HP:0007002", + "label": "Motor axonal neuropathy" + } + }, + { + "type": { + "id": "HP:0000750", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neuronopathy_distal_hereditary_motor_type_IIC_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "neuronopathy,_distal_hereditary_motor,_type_iic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006844", + "label": "Absent patellar reflexes" + } + }, + { + "type": { + "id": "HP:0009130", + "label": "Hand muscle atrophy" + } + }, + { + "type": { + "id": "HP:0008963", + "label": "Tibialis muscle weakness" + } + }, + { + "type": { + "id": "HP:0002355", + "label": "Difficulty walking" + } + }, + { + "type": { + "id": "HP:0200101", + "label": "Decreased/absent ankle reflexes" + } + }, + { + "type": { + "id": "HP:0003444", + "label": "EMG: chronic denervation signs" + } + }, + { + "type": { + "id": "HP:0003376", + "label": "Steppage gait" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613376", + "label": "Neuronopathy, distal hereditary motor, type IIC" + } + } + ], + "metaData": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neuronopathy_distal_hereditary_motor_type_IID_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "neuronopathy,_distal_hereditary_motor,_type_iid", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009072", + "label": "Decreased Achilles reflex" + } + }, + { + "type": { + "id": "HP:0003701", + "label": "Proximal muscle weakness" + } + }, + { + "type": { + "id": "HP:0003444", + "label": "EMG: chronic denervation signs" + } + }, + { + "type": { + "id": "HP:0002355", + "label": "Difficulty walking" + } + }, + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0003394", + "label": "Muscle spasm" + } + }, + { + "type": { + "id": "HP:0003431", + "label": "Decreased motor nerve conduction velocity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615575", + "label": "Neuronopathy, distal hereditary motor, type IID" + } + } + ], + "metaData": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neuronopathy_distal_hereditary_motor_type_IX_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "neuronopathy,_distal_hereditary_motor,_type_ix", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0008959", + "label": "Distal upper limb muscle weakness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617721", + "label": "Neuronopathy, distal hereditary motor, type IX" + } + } + ], + "metaData": { + "created": "2024-06-11T19:54:24.787653Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neuropathy_congenital_hypomyelinating_2_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "neuropathy,_congenital_hypomyelinating,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002421", + "label": "Poor head control" + } + }, + { + "type": { + "id": "HP:0025335", + "label": "Delayed ability to stand" + } + }, + { + "type": { + "id": "HP:0003383", + "label": "Onion bulb formation" + } + }, + { + "type": { + "id": "HP:0007149", + "label": "Distal upper limb amyotrophy" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618184", + "label": "Neuropathy, congenital hypomyelinating, 2" + } + } + ], + "metaData": { 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neuropathy_congenital_hypomyelinating_3_patient_1.json @@ -0,0 +1,165 @@ +{ + "id": "neuropathy,_congenital_hypomyelinating,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002020", + "label": "Gastroesophageal reflux" + } + }, + { + "type": { + "id": "HP:0002804", + "label": "Arthrogryposis multiplex congenita" + } + }, + { + "type": { + "id": "HP:0000817", + "label": "Reduced eye contact" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0003429", + "label": "CNS hypomyelination" + } + }, + { + "type": { + "id": "HP:0001272", + "label": "Cerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0002093", + "label": "Respiratory insufficiency" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + 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+ "type": { + "id": "HP:0006865", + "label": "Sensorimotor polyneuropathy affecting arms more than legs" + } + }, + { + "type": { + "id": "HP:0006938", + "label": "Impaired vibration sensation at ankles" + } + }, + { + "type": { + "id": "HP:0011727", + "label": "Peroneal muscle weakness" + } + }, + { + "type": { + "id": "HP:0005922", + "label": "Abnormal hand morphology" + } + }, + { + "type": { + "id": "HP:0008954", + "label": "Intrinsic hand muscle atrophy" + } + }, + { + "type": { + "id": "HP:0009027", + "label": "Foot dorsiflexor weakness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614213", + "label": "Neuropathy, hereditary sensory, type IIC" + } + } + ], + "metaData": { + "created": "2024-06-11T20:55:42.978330Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Neuropathy_hereditary_sensory_with_spastic_paraplegia_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neuropathy_hereditary_sensory_with_spastic_paraplegia_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..4b7cff3ea --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neuropathy_hereditary_sensory_with_spastic_paraplegia_autosomal_recessive_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "neuropathy,_hereditary_sensory,_with_spastic_paraplegia,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003431", + "label": "Decreased motor nerve conduction velocity" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0001258", + "label": "Spastic paraplegia" + } + }, + { + "type": { + "id": "HP:0007078", + "label": "Decreased amplitude of sensory action potentials" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0006827", + "label": "Atrophy of the spinal cord" + } + }, + { + "type": { + "id": "HP:0034075", + "label": "Decreased circulating apolipoprotein B concentration" + } + }, + { + "type": { + "id": "HP:0031957", + "label": "Spastic hemiparetic gait" + } + }, + { + "type": { + "id": "HP:0011448", + "label": "Ankle clonus" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:256840", + "label": "Neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T19:22:10.746887Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Neuropathy_hereditary_with_liability_to_pressure_palsies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neuropathy_hereditary_with_liability_to_pressure_palsies_patient_1.json new file mode 100644 index 000000000..836374fbe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neuropathy_hereditary_with_liability_to_pressure_palsies_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "neuropathy,_hereditary,_with_liability_to_pressure_palsies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033660", + "label": "Hand paresthesia" + } + }, + { + "type": { + "id": "HP:0030237", + "label": "Hand muscle weakness" + } + }, + { + "type": { + "id": "HP:0033748", + "label": "Hypoesthesia" + } + }, + { + "type": { + "id": "HP:0003431", + "label": "Decreased motor nerve conduction velocity" + } + }, + { + "type": { + "id": "HP:0001315", + "label": "Reduced tendon reflexes" + } + }, + { + "type": { + "id": "HP:0012821", + "label": "Unilateral vocal cord paresis" + } + }, + { + "type": { + "id": "HP:0003481", + "label": "Segmental peripheral demyelination/remyelination" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:162500", + "label": "Neuropathy, hereditary, with liability to pressure palsies" + } + } + ], + "metaData": { + "created": "2024-06-11T21:04:27.618177Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Neuropathy_inflammatory_demyelinating_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neuropathy_inflammatory_demyelinating_patient_1.json new file mode 100644 index 000000000..b82fdcf46 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neuropathy_inflammatory_demyelinating_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "neuropathy,_inflammatory_demyelinating", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007131", + "label": "Acute demyelinating polyneuropathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:139393", + "label": "Neuropathy, inflammatory demyelinating" + } + } + ], + "metaData": { + "created": "2024-06-11T19:15:03.989003Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutral_lipid_storage_disease_with_myopathy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutral_lipid_storage_disease_with_myopathy_patient_1.json new file mode 100644 index 000000000..de2559475 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutral_lipid_storage_disease_with_myopathy_patient_1.json @@ -0,0 +1,171 @@ +{ + "id": "neutral_lipid_storage_disease_with_myopathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001638", + "label": "Cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0003198", + "label": "Myopathy" + } + }, + { + "type": { + "id": "HP:0006280", + "label": "Chronic pancreatitis" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0001284", + "label": "Areflexia" + } + }, + { + "type": { + "id": "HP:0031936", + "label": "Delayed ability to walk" + } + }, + { + "type": { + "id": "HP:0011476", + "label": "Profound sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0011021", + "label": "Abnormal circulating enzyme concentration" + } + }, + { + "type": { + "id": "HP:0030973", + "label": "Postexertional symptom exacerbation" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0012240", + "label": "Increased intramyocellular lipid droplets" + } + }, + { + "type": { + "id": "HP:0031108", + "label": "Triceps weakness" + } + }, + { + "type": { + "id": "HP:0031964", + "label": "Elevated circulating alanine aminotransferase concentration" + } + }, + { + "type": { + "id": "HP:0012337", + "label": "Abnormal homeostasis" + } + }, + { + "type": { + "id": "HP:0006564", + "label": "Fluctuating hepatomegaly" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0003397", + "label": "Generalized hypotonia due to defect at the neuromuscular junction" + } + }, + { + "type": { + "id": "HP:0031028", + "label": "Lactescent serum" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610717", + "label": "Neutral lipid storage disease with myopathy" + } + } + ], + "metaData": { + "created": "2024-06-11T19:28:58.912865Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutropenia_chronic_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutropenia_chronic_familial_patient_1.json new file mode 100644 index 000000000..83c89e376 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutropenia_chronic_familial_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "neutropenia,_chronic_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001875", + "label": "Neutropenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:162700", + "label": "Neutropenia, chronic familial" + } + } + ], + "metaData": { + "created": "2024-06-11T21:43:36.401229Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutropenia_lethal_congenital_with_eosinophilia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutropenia_lethal_congenital_with_eosinophilia_patient_1.json new file mode 100644 index 000000000..931f8d5cc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutropenia_lethal_congenital_with_eosinophilia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "neutropenia,_lethal_congenital,_with_eosinophilia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001880", + "label": "Eosinophilia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:257100", + "label": "Neutropenia, lethal congenital, with eosinophilia" + } + } + ], + "metaData": { + "created": "2024-06-11T22:06:42.438819Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutropenia_nonimmune_chronic_idiopathic_of_adults_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutropenia_nonimmune_chronic_idiopathic_of_adults_patient_1.json new file mode 100644 index 000000000..a21a2fede --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutropenia_nonimmune_chronic_idiopathic_of_adults_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "neutropenia,_nonimmune_chronic_idiopathic,_of_adults", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001875", + "label": "Neutropenia" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607847", + "label": "Neutropenia, nonimmune chronic idiopathic, of adults" + } + } + ], + "metaData": { + "created": "2024-06-11T21:52:49.055280Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutropenia_severe_congenital_10_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutropenia_severe_congenital_10_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..6ae1d410e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutropenia_severe_congenital_10_autosomal_recessive_patient_1.json @@ -0,0 +1,74 @@ +{ + "id": "neutropenia,_severe_congenital,_10,_autosomal_recessive", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012311", + "label": "Monocytosis" + } + }, + { + "type": { + "id": "HP:0032251", + "label": "Abnormal immune system morphology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0004854", + "label": "Intermittent thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0011991", + "label": "Abnormal neutrophil count" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620534", + "label": "Neutropenia, severe congenital, 10, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:50.570898Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutropenia_severe_congenital_1_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutropenia_severe_congenital_1_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..40ea6d09c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutropenia_severe_congenital_1_autosomal_dominant_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "neutropenia,_severe_congenital,_1,_autosomal_dominant", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001875", + "label": "Neutropenia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0005541", + "label": "Congenital agranulocytosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:202700", + "label": "Neutropenia, severe congenital, 1, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T21:06:50.702092Z", + "createdBy": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutropenia_severe_congenital_2_autosomal_dominant_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "neutropenia,_severe_congenital,_2,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010976", + "label": "B lymphocytopenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613107", + "label": "Neutropenia, severe congenital, 2, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T23:56:11.952445Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutropenia_severe_congenital_6_autosomal_recessive_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "neutropenia,_severe_congenital,_6,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0005561", + "label": "Abnormal bone marrow cell morphology" + } + }, + { + "type": { + "id": "HP:0001904", + "label": "Neutropenia in presence of anti-neutropil antibodies" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616022", + "label": "Neutropenia, severe congenital, 6, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T22:13:52.102745Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutropenia_severe_congenital_9_autosomal_dominant_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "neutropenia,_severe_congenital,_9,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0011343", + "label": "Moderate global developmental delay" + } + }, + { + "type": { + "id": "HP:0025408", + "label": "Abnormal spleen morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619813", + "label": "Neutropenia, severe congenital, 9, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T19:17:26.968982Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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+++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutrophil_actin_dysfunction_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "neutrophil_actin_dysfunction", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002718", + "label": "Recurrent bacterial infections" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:257150", + "label": "Neutrophil actin dysfunction" + } + } + ], + "metaData": { + "created": "2024-06-11T17:59:04.785616Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutrophilia_hereditary_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutrophilia_hereditary_patient_1.json new file mode 100644 index 000000000..61657e541 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Neutrophilia_hereditary_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "neutrophilia,_hereditary", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008318", + "label": "Elevated leukocyte alkaline phosphatase" + } + }, + { + "type": { + "id": "HP:0001744", + "label": "Splenomegaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:162830", + "label": "Neutrophilia, hereditary" + } + } + ], + "metaData": { + "created": "2024-06-11T23:23:33.663482Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nevi_flammei_familial_multiple_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nevi_flammei_familial_multiple_patient_1.json new file mode 100644 index 000000000..ba611b82c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nevi_flammei_familial_multiple_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "nevi_flammei,_familial_multiple", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001052", + "label": "Nevus flammeus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:163000", + "label": "Nevi flammei, familial multiple" + } + } + ], + "metaData": { + "created": "2024-06-11T20:51:39.508010Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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"type": { + "id": "HP:0007642", + "label": "Congenital stationary night blindness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610444", + "label": "Night blindness, congenital stationary, autosomal dominant 3" + } + } + ], + "metaData": { + "created": "2024-06-11T22:39:27.099527Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Night_blindness_congenital_stationary_complete_1C_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Night_blindness_congenital_stationary_complete_1C_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..53188640d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Night_blindness_congenital_stationary_complete_1C_autosomal_recessive_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "night_blindness,_congenital_stationary_(complete),_1c,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0000512", + "label": "Abnormal electroretinogram" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0000549", 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Night_blindness_congenital_stationary_type_1F_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Night_blindness_congenital_stationary_type_1F_patient_1.json new file mode 100644 index 000000000..839402e1c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Night_blindness_congenital_stationary_type_1F_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "night_blindness,_congenital_stationary,_type_1f", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011958", + "label": "Retinal perforation" + } + }, + { + "type": { + "id": "HP:0030640", + "label": "Complete congenital stationary night blindness" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0007830", + "label": "Adult-onset night blindness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615058", + "label": "Night blindness, 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Night_blindness_congenital_stationary_type_1G_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "night_blindness,_congenital_stationary,_type_1g", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007642", + "label": "Congenital stationary night blindness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616389", + "label": "Night blindness, congenital stationary, type 1G" + } + } + ], + "metaData": { + "created": "2024-06-11T20:54:53.121097Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nivelon_Nivelon_Mabille_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nivelon_Nivelon_Mabille_syndrome_patient_1.json new file mode 100644 index 000000000..6f2529997 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nivelon_Nivelon_Mabille_syndrome_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "nivelon-nivelon-mabille_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0003510", + "label": "Severe short stature" + } + }, + { + "type": { + "id": "HP:0003236", + "label": "Elevated circulating creatine kinase concentration" + } + }, + { + "type": { + "id": "HP:0003394", + "label": "Muscle spasm" + } + }, + { + "type": { + "id": "HP:0000037", + "label": "Male pseudohermaphroditism" + } + }, 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0007811", + "label": "Horizontal pendular nystagmus" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614826", + "label": "Nystagmus 7, congenital, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T20:15:42.093278Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nystagmus_congenital_motor_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nystagmus_congenital_motor_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..a0b354130 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nystagmus_congenital_motor_autosomal_recessive_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "nystagmus,_congenital_motor,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006934", + "label": "Congenital nystagmus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:257400", + "label": "Nystagmus, congenital motor, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T22:53:36.062184Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nystagmus_hereditary_vertical_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nystagmus_hereditary_vertical_patient_1.json new file mode 100644 index 000000000..419378537 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nystagmus_hereditary_vertical_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "nystagmus,_hereditary_vertical", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:164150", + "label": "Nystagmus, hereditary vertical" + } + } + ], + "metaData": { + "created": "2024-06-11T19:24:49.429942Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Nystagmus_myoclonic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nystagmus_myoclonic_patient_1.json new file mode 100644 index 000000000..627f3ae7b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Nystagmus_myoclonic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "nystagmus,_myoclonic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:310800", + "label": "Nystagmus, myoclonic" + } + } + ], + "metaData": { + "created": "2024-06-11T18:56:32.107364Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/OBESITY_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/OBESITY_patient_1.json new file mode 100644 index 000000000..7bcb869cc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/OBESITY_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "obesity", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031819", + "label": "Increased waist to hip ratio" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601665", + "label": "OBESITY" + } + } + ], + "metaData": { + "created": "2024-06-11T22:59:57.704681Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/OEIS_complex_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/OEIS_complex_patient_1.json new file mode 100644 index 000000000..73e68211e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/OEIS_complex_patient_1.json @@ -0,0 +1,147 @@ +{ + "id": "oeis_complex", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000061", + "label": "Ambiguous genitalia, female" + } + }, + { + "type": { + "id": "HP:0010305", + "label": "Absence of the sacrum" + } + }, + { + "type": { + "id": "HP:0000039", + "label": "Epispadias" + } + }, + { + "type": { + "id": "HP:0002937", + "label": "Hemivertebrae" + } + }, + { + "type": { + "id": "HP:0000238", + "label": "Hydrocephalus" + } + }, + { + "type": { + "id": "HP:0008490", + "label": "Sacral segmentation defect" + } + }, + { + "type": { + "id": "HP:0002475", + "label": "Myelomeningocele" + } + }, + { + "type": { + "id": "HP:0002836", + "label": "Bladder exstrophy" + } + }, + { + "type": { + "id": "HP:0002144", + "label": "Tethered cord" + } + }, + { + "type": { + "id": "HP:0000054", + "label": "Micropenis" + } + }, + { + "type": { + "id": "HP:0000143", + "label": "Rectovaginal fistula" + } + }, + { + "type": { + "id": "HP:0005223", + "label": "Duplicated colon" + } + }, + { + "type": { + "id": "HP:0000072", + "label": "Hydroureter" + } + }, + { + "type": { + "id": "HP:0000878", + "label": "11 pairs of ribs" + } + }, + { + "type": { + "id": "HP:0001545", + "label": "Anteriorly placed anus" + } + }, + { + "type": { + "id": "HP:0002023", + "label": "Anal atresia" + } + }, + { + "type": { + "id": "HP:0100790", + "label": "Hernia" + } + }, + { + "type": { + "id": "HP:0010958", + "label": "Bilateral renal agenesis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:258040", + "label": "OEIS complex" + } + } + ], + "metaData": { + "created": "2024-06-11T22:53:57.766298Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/OSTEOMESOPYKNOSIS_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/OSTEOMESOPYKNOSIS_patient_1.json new file mode 100644 index 000000000..4b655c2c3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/OSTEOMESOPYKNOSIS_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "osteomesopyknosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000789", + "label": "Infertility" + } + }, + { + "type": { + "id": "HP:0011001", + "label": "Increased bone mineral density" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:166450", + "label": "OSTEOMESOPYKNOSIS" + } + } + ], + "metaData": { + "created": "2024-06-11T18:23:04.211717Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/OSTEOPOROSIS_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/OSTEOPOROSIS_patient_1.json new file mode 100644 index 000000000..2eb172957 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/OSTEOPOROSIS_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "osteoporosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000939", + "label": "Osteoporosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:166710", + "label": "OSTEOPOROSIS" + } + } + ], + "metaData": { + "created": "2024-06-11T23:03:10.783948Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/OTOSCLEROSIS_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/OTOSCLEROSIS_patient_1.json new file mode 100644 index 000000000..424572006 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/OTOSCLEROSIS_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "otosclerosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000362", + "label": "Otosclerosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:166800", + "label": "OTOSCLEROSIS" + } + } + ], + "metaData": { + "created": "2024-06-11T19:32:27.017439Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/O_donnell_Luria_Rodan_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/O_donnell_Luria_Rodan_syndrome_patient_1.json new file mode 100644 index 000000000..d53dfe3c3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/O_donnell_Luria_Rodan_syndrome_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "o'donnell-luria-rodan_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034014", + "label": "Tubulonodular pericallosal lipoma" + } + }, + { + "type": { + "id": "HP:0006863", + "label": "Severe expressive language delay" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:0200006", + "label": "Slanting of the palpebral fissure" + } + }, + { + "type": { + "id": "HP:0004482", + "label": "Relative macrocephaly" + } + }, + { + "type": { + "id": "HP:0003397", + "label": "Generalized hypotonia due to defect at the neuromuscular junction" + } + }, + { + "type": { + "id": "HP:0030799", + "label": "Scaphocephaly" + } + }, + { + "type": { + "id": "HP:0032892", + "label": "Infection-related seizure" + } + }, + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:5200125", + "label": "Aggression towards others" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618512", + "label": "O'donnell-Luria-Rodan syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T17:47:15.193227Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Obesity_Hypoventilation_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Obesity_Hypoventilation_syndrome_patient_1.json new file mode 100644 index 000000000..ba5d44b3e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Obesity_Hypoventilation_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "obesity-hypoventilation_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000961", + "label": "Cyanosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:257500", + "label": "Obesity-Hypoventilation syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:29:34.893094Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"iso8601duration": "P4Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000825", + "label": "Hyperinsulinemic hypoglycemia" + } + }, + { + "type": { + "id": "HP:0004324", + "label": "Increased body weight" + } + }, + { + "type": { + "id": "HP:0001548", + "label": "Overgrowth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620195", + "label": "Obesity and hypopigmentation" + } + } + ], + "metaData": { + "created": "2024-06-11T21:58:21.723446Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Obesity_early_onset_with_adrenal_insufficiency_and_red_hair_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Obesity_early_onset_with_adrenal_insufficiency_and_red_hair_patient_1.json new file mode 100644 index 000000000..5b07d6bf2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Obesity_early_onset_with_adrenal_insufficiency_and_red_hair_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "obesity,_early-onset,_with_adrenal_insufficiency_and_red_hair", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001513", + "label": "Obesity" + } + }, + { + "type": { + "id": "HP:0002297", + "label": "Red hair" + } + }, + { + "type": { + "id": "HP:0011748", + "label": "Adrenocorticotropic hormone deficiency" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609734", + "label": "Obesity, early-onset, with adrenal insufficiency and red hair" + } + } + ], + "metaData": { + "created": "2024-06-11T20:03:02.386555Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Obesity_hyperphagia_and_developmental_delay_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Obesity_hyperphagia_and_developmental_delay_patient_1.json new file mode 100644 index 000000000..0ee887fd1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Obesity_hyperphagia_and_developmental_delay_patient_1.json @@ -0,0 +1,92 @@ +{ + "id": "obesity,_hyperphagia,_and_developmental_delay", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000324", + "label": "Facial asymmetry" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:0100738", + "label": "Abnormal eating behavior" + } + }, + { + "type": { + "id": "HP:0034434", + "label": "Abnormal communication" + } + }, + { + "type": { + "id": "HP:0001483", + "label": "Eye poking" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613886", + "label": "Obesity, hyperphagia, and developmental delay" + } + } + ], + "metaData": { + "created": "2024-06-11T23:30:59.004809Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Obesity_susceptibility_to_BMIQ19_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Obesity_susceptibility_to_BMIQ19_patient_1.json new file mode 100644 index 000000000..404f32268 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Obesity_susceptibility_to_BMIQ19_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "obesity,_susceptibility_to,_bmiq19", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000458", + "label": "Anosmia" + } + }, + { + "type": { + "id": "HP:0000842", + "label": "Hyperinsulinemia" + } + }, + { + "type": { + "id": "HP:0031793", + "label": "Increased serum leptin" + } + }, + { + "type": { + "id": "HP:0002591", + "label": "Polyphagia" + } + }, + { + "type": { + "id": "HP:0004324", + "label": "Increased body weight" + } + }, + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617885", + "label": "Obesity, susceptibility to, BMIQ19" + } + } + ], + "metaData": { + "created": "2024-06-11T21:47:25.746976Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Obsessive_Compulsive_disorder_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Obsessive_Compulsive_disorder_1_patient_1.json new file mode 100644 index 000000000..87f49bf94 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Obsessive_Compulsive_disorder_1_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "obsessive-compulsive_disorder_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000716", + "label": "Depression" + } + }, + { + "type": { + "id": "HP:0030212", + "label": "Collectionism" + } + }, + { + "type": { + "id": "HP:0012166", + "label": "Skin-picking" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:164230", + "label": "Obsessive-Compulsive disorder 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:03:47.429107Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Occipital_horn_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Occipital_horn_syndrome_patient_1.json new file mode 100644 index 000000000..eec9cbd71 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Occipital_horn_syndrome_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "occipital_horn_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0000015", + "label": "Bladder diverticulum" + } + }, + { + "type": { + "id": "HP:0002673", + "label": "Coxa valga" + } + }, + { + "type": { + "id": "HP:0000276", + "label": "Long face" + } + }, + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0007458", + "label": "Focal hyperextensible skin" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0002036", + "label": "Hiatus hernia" + } + }, + { + "type": { + "id": "HP:0031087", + "label": "Absent pubertal growth spurt" + } + }, + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:304150", + "label": "Occipital horn syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:10:42.225503Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Occult_macular_dystrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Occult_macular_dystrophy_patient_1.json new file mode 100644 index 000000000..5f49c604e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Occult_macular_dystrophy_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "occult_macular_dystrophy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030468", + "label": "Abnormal multifocal electroretinogram" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613587", + "label": "Occult macular dystrophy" + } + } + ], + "metaData": { + "created": "2024-06-11T19:31:37.820048Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ocular_cicatricial_pemphigoid_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ocular_cicatricial_pemphigoid_patient_1.json new file mode 100644 index 000000000..08cdab729 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ocular_cicatricial_pemphigoid_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ocular_cicatricial_pemphigoid", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000478", + "label": "Abnormality of the eye" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:164185", + "label": "Ocular cicatricial pemphigoid" + } + } + ], + "metaData": { + "created": "2024-06-11T20:11:35.364630Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ocular_motor_apraxia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ocular_motor_apraxia_patient_1.json new file mode 100644 index 000000000..8423f1f11 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ocular_motor_apraxia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ocular_motor_apraxia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000090", + "label": "Nephronophthisis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:257550", + "label": "Ocular motor apraxia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:57:54.573700Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculoauricular_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculoauricular_syndrome_patient_1.json new file mode 100644 index 000000000..81492e475 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculoauricular_syndrome_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "oculoauricular_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001116", + "label": "Macular coloboma" + } + }, + { + "type": { + "id": "HP:0000612", + "label": "Iris coloboma" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0011484", + "label": "Posterior synechiae of the anterior chamber" + } + }, + { + "type": { + "id": "HP:0012376", + "label": "Microphakia" + } + }, + { + "type": { + "id": "HP:0011523", + "label": "Iris cyst" + } + }, + { + "type": { + "id": "HP:0008020", + "label": "Cone dystrophy" + } + }, + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0011480", + "label": "Unilateral microphthalmos" + } + }, + { + "type": { + "id": "HP:0000387", + "label": "Absent earlobe" + } + }, + { + "type": { + "id": "HP:0000519", + "label": "Developmental cataract" + } + }, + { + "type": { + "id": "HP:0007834", + "label": "Progressive cataract" + } + }, + { + "type": { + "id": "HP:0004328", + "label": "Abnormal anterior eye segment morphology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612109", + "label": "Oculoauricular syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:10:00.867751Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculocerebral_syndrome_with_hypopigmentation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculocerebral_syndrome_with_hypopigmentation_patient_1.json new file mode 100644 index 000000000..aceedca9d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculocerebral_syndrome_with_hypopigmentation_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "oculocerebral_syndrome_with_hypopigmentation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000478", + "label": "Abnormality of the eye" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0002305", + "label": "Athetosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:257800", + "label": "Oculocerebral syndrome with hypopigmentation" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:11.437930Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculocerebrocutaneous_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculocerebrocutaneous_syndrome_patient_1.json new file mode 100644 index 000000000..c741f719b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculocerebrocutaneous_syndrome_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "oculocerebrocutaneous_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000324", + "label": "Facial asymmetry" + } + }, + { + "type": { + "id": "HP:0000765", + "label": "Abnormal thorax morphology" + } + }, + { + "type": { + "id": "HP:0007115", + "label": "Orbital encephalocele" + } + }, + { + "type": { + "id": "HP:0002282", + "label": "Gray matter heterotopia" + } + }, + { + "type": { + "id": "HP:0001596", + "label": "Alopecia" + } + }, + { + "type": { + "id": "HP:0000528", + "label": "Anophthalmia" + } + }, + { + "type": { + "id": "HP:0007510", + "label": "Focal dermal aplasia/hypoplasia" + } + }, + { + "type": { + "id": "HP:0001361", + "label": "Nystagmus-induced head nodding" + } + }, + { + "type": { + "id": "HP:0006849", + "label": "Hypodysplasia of the corpus callosum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:164180", + "label": "Oculocerebrocutaneous syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:39:21.800173Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculocutaneous_albinism_type_VIII_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculocutaneous_albinism_type_VIII_patient_1.json new file mode 100644 index 000000000..d7d97228c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculocutaneous_albinism_type_VIII_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "oculocutaneous_albinism,_type_viii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040030", + "label": "Chorioretinal hypopigmentation" + } + }, + { + "type": { + "id": "HP:0005599", + "label": "Hypopigmentation of hair" + } + }, + { + "type": { + "id": "HP:0000666", + "label": "Horizontal nystagmus" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619165", + "label": "Oculocutaneous albinism, type VIII" + } + } + ], + "metaData": { + "created": "2024-06-11T23:33:04.520288Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculodentodigital_dysplasia_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculodentodigital_dysplasia_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..cb669351c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculodentodigital_dysplasia_autosomal_recessive_patient_1.json @@ -0,0 +1,153 @@ +{ + "id": "oculodentodigital_dysplasia,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011821", + "label": "Abnormal facial skeleton morphology" + } + }, + { + "type": { + "id": "HP:0006494", + "label": "Aplasia/Hypoplasia involving bones of the feet" + } + }, + { + "type": { + "id": "HP:0011939", + "label": "3-4 finger cutaneous syndactyly" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0012758", + "label": 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"Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0010705", + "label": "4-5 finger syndactyly" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:257850", + "label": "Oculodentodigital dysplasia, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T21:42:57.098159Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculodentodigital_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculodentodigital_dysplasia_patient_1.json new file mode 100644 index 000000000..e3822eae7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculodentodigital_dysplasia_patient_1.json @@ -0,0 +1,249 @@ +{ + "id": "oculodentodigital_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000501", + "label": "Glaucoma" + } + }, + { + "type": { + "id": "HP:0009183", + "label": "Joint contracture of the 5th finger" + } + }, + { + "type": { + "id": "HP:0000482", + "label": "Microcornea" + } + }, + { + "type": { + "id": "HP:0003196", + "label": "Short nose" + } + }, + { + "type": { + "id": "HP:0000011", + "label": "Neurogenic bladder" + } + }, + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + } + }, + { + "type": { + "id": "HP:0002385", + "label": 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file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculoectodermal_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculoectodermal_syndrome_patient_1.json new file mode 100644 index 000000000..3a7796bf7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculoectodermal_syndrome_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "oculoectodermal_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001004", + "label": "Lymphedema" + } + }, + { + "type": { + "id": "HP:0012803", + "label": "Anisometropia" + } + }, + { + "type": { + "id": "HP:0100955", + "label": "Giant cell granuloma of mandible" + } + }, + { + "type": { + "id": "HP:0000953", + "label": "Hyperpigmentation of the skin" + } + }, + { + "type": { + "id": "HP:0000625", + "label": "Eyelid coloboma" + } + }, + { + "type": { + "id": "HP:0000482", + "label": "Microcornea" + } + }, + { + "type": { + "id": 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"namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculogastrointestinal_neurodevelopmental_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculogastrointestinal_neurodevelopmental_syndrome_patient_1.json new file mode 100644 index 000000000..a4d35d4e6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculogastrointestinal_neurodevelopmental_syndrome_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "oculogastrointestinal_neurodevelopmental_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012736", + "label": "Profound global developmental delay" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0000753", + "label": "Autism with high cognitive abilities" 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"http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculomotor_abducens_synkinesis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculomotor_abducens_synkinesis_patient_1.json new file mode 100644 index 000000000..82115a72a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculomotor_abducens_synkinesis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "oculomotor-abducens_synkinesis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033851", + "label": "Oculomotor synkinesis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619215", + "label": "Oculomotor-abducens synkinesis" + } + } + ], + "metaData": { + "created": "2024-06-11T22:50:31.360405Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculopalatocerebral_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculopalatocerebral_syndrome_patient_1.json new file mode 100644 index 000000000..d78d29c78 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculopalatocerebral_syndrome_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "oculopalatocerebral_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0007633", + "label": "Bilateral microphthalmos" + } + }, + { + "type": { + "id": "HP:5201015", + "label": "Craniofacial cleft" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:257910", + "label": "Oculopalatocerebral syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:48:20.614555Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculopharyngeal_muscular_dystrophy_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculopharyngeal_muscular_dystrophy_2_patient_1.json new file mode 100644 index 000000000..be456be57 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculopharyngeal_muscular_dystrophy_2_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "oculopharyngeal_muscular_dystrophy_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001618", + "label": "Dysphonia" + } + }, + { + "type": { + "id": "HP:0000602", + "label": "Ophthalmoplegia" + } + }, + { + "type": { + "id": "HP:0004878", + "label": "Intercostal muscle weakness" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0007911", + "label": "Congenital bilateral ptosis" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620460", + "label": "Oculopharyngeal muscular dystrophy 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:21:01.470281Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculopharyngodistal_myopathy_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculopharyngodistal_myopathy_1_patient_1.json new file mode 100644 index 000000000..31cd8dd3a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculopharyngodistal_myopathy_1_patient_1.json @@ -0,0 +1,158 @@ +{ + "id": "oculopharyngodistal_myopathy_1", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P49Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008756", + "label": "Bowing of the vocal cords" + } + }, + { + "type": { + "id": "HP:0001618", + "label": "Dysphonia" + } + }, + { + "type": { + "id": "HP:0002015", + "label": "Dysphagia" + } + }, + { + "type": { + "id": "HP:0003805", + "label": "Rimmed vacuoles" + } + }, + { + "type": { + "id": "HP:0001692", + 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diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculopharyngodistal_myopathy_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculopharyngodistal_myopathy_2_patient_1.json new file mode 100644 index 000000000..ad0a882df --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculopharyngodistal_myopathy_2_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "oculopharyngodistal_myopathy_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001283", + "label": "Bulbar palsy" + } + }, + { + "type": { + "id": "HP:0008331", + "label": "Elevated creatine kinase after exercise" + } + }, + { + "type": { + "id": "HP:0007687", + "label": "Unilateral ptosis" + } + }, + { + "type": { + "id": "HP:0003805", + "label": "Rimmed vacuoles" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618940", + "label": "Oculopharyngodistal myopathy 2" + } + } + ], + "metaData": { + "created": 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000000000..79b4bc8d7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oculopharyngodistal_myopathy_4_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "oculopharyngodistal_myopathy_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0000544", + "label": "External ophthalmoplegia" + } + }, + { + "type": { + "id": "HP:0030319", + "label": "Weakness of facial musculature" + } + }, + { + "type": { + "id": "HP:0012548", + "label": "Fatty replacement of skeletal muscle" + } + }, + { + "type": { + "id": "HP:0003458", + "label": "EMG: myopathic abnormalities" + } + }, + { + "type": { + "id": "HP:0003736", + "label": "Autophagic vacuoles" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619790", + "label": "Oculopharyngodistal myopathy 4" + } + } + ], + "metaData": { + "created": "2024-06-11T18:15:24.534493Z", + "createdBy": "phenotype2phenopacket", + 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+ }, + { + "type": { + "id": "HP:0006483", + "label": "Abnormal number of teeth" + } + }, + { + "type": { + "id": "HP:0012373", + "label": "Abnormal eye physiology" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0000519", + "label": "Developmental cataract" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000915", + "label": "Pectus excavatum of inferior sternum" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0002750", + "label": "Delayed skeletal maturation" + } + }, + { + "type": { + "id": "HP:0001518", + "label": "Small for gestational age" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0001376", + "label": "Limitation of joint mobility" + } + }, + { + "type": { + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Odontoid_hypoplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Odontoid_hypoplasia_patient_1.json new file mode 100644 index 000000000..8a5705b5a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Odontoid_hypoplasia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "odontoid_hypoplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003311", + "label": "Hypoplasia of the odontoid process" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613628", + "label": "Odontoid hypoplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T22:13:43.901423Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Odontoonychodermal_dysplasia_patient_1.json @@ -0,0 +1,153 @@ +{ + "id": "odontoonychodermal_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001807", + "label": "Ridged nail" + } + }, + { + "type": { + "id": "HP:0000972", + "label": "Palmoplantar hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0011065", + "label": "Conical incisor" + } + }, + { + "type": { + "id": "HP:0001816", + "label": "Thin nail" + } + }, + { + "type": { + "id": "HP:0032152", + "label": "Keratosis pilaris" + } + }, + { + "type": { + "id": "HP:0008386", + "label": "Aplasia/Hypoplasia of the nails" + } + }, + { + "type": { + "id": "HP:0000692", + "label": "Tooth malposition" + } + }, + { + "type": { + "id": "HP:0007550", + "label": "Hypohidrosis or hyperhidrosis" + } + }, + { + "type": { + "id": "HP:0000958", + "label": "Dry skin" + } + }, + { + "type": { + "id": "HP:0033975", + "label": "Absent 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}, + { + "type": { + "id": "HP:0005001", + "label": "Recurrent patellar dislocation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603736", + "label": "Ohdo syndrome, Say-Barber-Biesecker-Young-Simpson variant" + } + } + ], + "metaData": { + "created": "2024-06-11T18:24:56.347508Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ohdo_syndrome_X_linked_patient_1.json 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file mode 100644 index 000000000..32c9b516e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Okt4_epitope_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "okt4_epitope_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002843", + "label": "Abnormal T cell morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613949", + "label": "Okt4 epitope deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T19:34:33.233461Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Okur_Chung_neurodevelopmental_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Okur_Chung_neurodevelopmental_syndrome_patient_1.json new file mode 100644 index 000000000..718ae02fc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Okur_Chung_neurodevelopmental_syndrome_patient_1.json @@ -0,0 +1,225 @@ +{ + "id": "okur-chung_neurodevelopmental_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001302", + "label": "Pachygyria" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000023", + "label": "Inguinal hernia" + } + }, + { + "type": { + "id": "HP:0031936", + "label": "Delayed ability to walk" + } + }, + { + "type": { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oligodontia_colorectal_cancer_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oligodontia_colorectal_cancer_syndrome_patient_1.json new file mode 100644 index 000000000..ccde5a2a3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oligodontia_colorectal_cancer_syndrome_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "oligodontia-colorectal_cancer_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P41Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005227", + "label": "Adenomatous colonic polyposis" + } + }, + { + "type": { + "id": "HP:0012225", + "label": "Oligodontia of primary teeth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608615", + "label": "Oligodontia-colorectal cancer syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:54:22.142505Z", + "createdBy": 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"id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000824", + "label": "Decreased response to growth hormone stimulation test" + } + }, + { + "type": { + "id": "HP:0002460", + "label": "Distal muscle weakness" + } + }, + { + "type": { + "id": "HP:0000044", + "label": "Hypogonadotropic hypogonadism" + } + }, + { + "type": { + "id": "HP:0008736", + "label": "Hypoplasia of penis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:275400", + "label": "Oliver-Mcfarlane syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:34:33.580586Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Olmsted_syndrome_2_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "olmsted_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100825", + "label": "Cheilitis" + } + }, + { + "type": { + "id": "HP:0025092", + "label": "Epidermal acanthosis" + } + }, + { + "type": { + "id": "HP:0001036", + "label": "Parakeratosis" + } + }, + { + "type": { + "id": "HP:0033707", + "label": "Perioral hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0000989", + "label": "Pruritus" + } + }, + { + "type": { + "id": "HP:0002224", + "label": "Woolly hair" + } + }, + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619208", + "label": "Olmsted syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T17:53:41.506922Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": 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"label": "Hypoplasia of the thymus" + } + }, + { + "type": { + "id": "HP:0004529", + "label": "Atrophic, patchy alopecia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603554", + "label": "Omenn syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:36:51.682755Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Omodysplasia_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Omodysplasia_1_patient_1.json new file mode 100644 index 000000000..19b21f076 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Omodysplasia_1_patient_1.json @@ -0,0 +1,147 @@ +{ + "id": "omodysplasia_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001377", + "label": "Limited elbow extension" + } + }, + { + "type": { + "id": "HP:0004415", + "label": "Pulmonary artery stenosis" + } + }, + { + "type": { + "id": "HP:0003196", + "label": "Short nose" + } + }, + { + "type": { + "id": "HP:0002996", + "label": "Limited elbow movement" + } + }, + { + "type": { + "id": "HP:0005766", + "label": "Disproportionate shortening of the tibia" + } + }, + { + "type": { + "id": "HP:0005120", + "label": "Abnormal cardiac atrium morphology" + } + }, + { + "type": { + "id": "HP:0005792", + "label": "Short humerus" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal 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"label": "Wide nasal bridge" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:164745", + "label": "Omodysplasia 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:28:19.666926Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Omphalocele_Cleft_palate_syndrome_lethal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Omphalocele_Cleft_palate_syndrome_lethal_patient_1.json new file mode 100644 index 000000000..f0610cb16 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Omphalocele_Cleft_palate_syndrome_lethal_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "omphalocele-cleft_palate_syndrome,_lethal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000238", + "label": "Hydrocephalus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:258320", + "label": "Omphalocele-Cleft palate syndrome, lethal" + } + } + ], + "metaData": { + "created": "2024-06-11T23:11:43.349502Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Omphalocele_due_to_duplication_of_1p31_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Omphalocele_due_to_duplication_of_1p31_3_patient_1.json new file mode 100644 index 000000000..f981e087b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Omphalocele_due_to_duplication_of_1p31_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "omphalocele_due_to_duplication_of_1p31.3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001539", + "label": "Omphalocele" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:164750", + "label": "Omphalocele due to duplication of 1p31.3" + } + } + ], + "metaData": { + "created": "2024-06-11T20:26:06.785184Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Omphalocele_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Omphalocele_patient_1.json new file mode 100644 index 000000000..c6a22250b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Omphalocele_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "omphalocele", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001539", + "label": "Omphalocele" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:310980", + "label": "Omphalocele" + } + } + ], + "metaData": { + "created": "2024-06-11T23:43:15.148420Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oncocytoma_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oncocytoma_patient_1.json new file mode 100644 index 000000000..c03262db5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oncocytoma_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "oncocytoma", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011798", + "label": "Renal oncocytoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:553000", + "label": "Oncocytoma" + } + } + ], + "metaData": { + "created": "2024-06-12T00:31:45.463877Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ondontochondrodysplasia_2_with_hearing_loss_and_diabetes_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ondontochondrodysplasia_2_with_hearing_loss_and_diabetes_patient_1.json new file mode 100644 index 000000000..10772dce2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ondontochondrodysplasia_2_with_hearing_loss_and_diabetes_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "ondontochondrodysplasia_2_with_hearing_loss_and_diabetes", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006291", + "label": "Marked delay in eruption of permanent teeth" + } + }, + { + "type": { + "id": "HP:0100326", + "label": "Immunologic hypersensitivity" + } + }, + { + "type": { + "id": "HP:0001167", + "label": "Abnormal finger morphology" + } + }, + { + "type": { + "id": "HP:3000050", + "label": "Abnormal odontoid tissue morphology" + } + }, + { + "type": { + "id": "HP:0005752", + "label": "Flattened moderately deformed vertebrae" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0030866", + "label": "Large knee" + } + }, + { + "type": { + "id": "HP:0025453", + "label": "Delayed adrenarche" + } + }, + { + "type": { + "id": "HP:0000819", + "label": "Diabetes mellitus" + } + }, + { + "type": { + "id": "HP:0005922", + "label": "Abnormal hand morphology" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0032004", + "label": "Pruritus vulvae" + } + }, + { + "type": { + "id": "HP:0003502", + "label": "Mild short stature" + } + }, + { + "type": { + "id": "HP:0005920", + "label": "Abnormal epiphysis morphology of the phalanges of the hand" + } + }, + { + "type": { + "id": "HP:0000422", + "label": "Abnormal nasal bridge morphology" + } + }, + { + "type": { + "id": "HP:0006323", + "label": "Premature loss of primary teeth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619269", + "label": "Ondontochondrodysplasia 2 with hearing loss and diabetes" + } + } + ], + "metaData": { + "created": "2024-06-11T20:02:06.481743Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Onychodystrophy_osteodystrophy_impaired_intellectual_development_and_seizures_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Onychodystrophy_osteodystrophy_impaired_intellectual_development_and_seizures_syndrome_patient_1.json new file mode 100644 index 000000000..71cf0028a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Onychodystrophy_osteodystrophy_impaired_intellectual_development_and_seizures_syndrome_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "onychodystrophy,_osteodystrophy,_impaired_intellectual_development,_and_seizures_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002421", + "label": "Poor head control" + } + }, + { + "type": { + "id": "HP:0001800", + "label": "Hypoplastic toenails" + } + }, + { + "type": { + "id": "HP:0000696", 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Onychotrichodysplasia_and_neutropenia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Onychotrichodysplasia_and_neutropenia_patient_1.json new file mode 100644 index 000000000..4ce1f7358 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Onychotrichodysplasia_and_neutropenia_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "onychotrichodysplasia_and_neutropenia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000509", + "label": "Conjunctivitis" + } + }, + { + "type": { + "id": "HP:0040055", + "label": "Short lower eyelashes" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:258360", + "label": "Onychotrichodysplasia and neutropenia" + } + } + ], + "metaData": { + "created": "2024-06-11T19:39:56.435617Z", + "createdBy": "phenotype2phenopacket", + 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}, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:4000008", + "label": "Formation of multiple pronuclei during fertilization" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619176", + "label": "Oocyte maturation defect 10" + } + } + ], + "metaData": { + "created": "2024-06-11T23:02:05.295021Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_11_patient_1.json new file mode 100644 index 000000000..7f30e1686 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_11_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "oocyte_maturation_defect_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008222", + "label": "Female infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619643", + "label": "Oocyte maturation defect 11" + } + } + ], + "metaData": { + "created": "2024-06-11T20:58:53.092948Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_12_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_12_patient_1.json new file mode 100644 index 000000000..1541607c8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_12_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "oocyte_maturation_defect_12", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033335", + "label": "Abnormal preimplantation embryonic development" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619697", + "label": "Oocyte maturation defect 12" + } + } + ], + "metaData": { + "created": "2024-06-11T20:35:09.512486Z", + 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"oocyte_maturation_defect_13", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033712", + "label": "Repeated implantation failure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620154", + "label": "Oocyte maturation defect 13" + } + } + ], + "metaData": { + "created": "2024-06-11T22:32:06.047620Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_2_patient_1.json new file mode 100644 index 000000000..fb64a21ed --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "oocyte_maturation_defect_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031516", + "label": "Oocyte arrest at metaphase I" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616780", + "label": "Oocyte maturation defect 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:04:20.526869Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_3_patient_1.json new file mode 100644 index 000000000..374cd7ae3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "oocyte_maturation_defect_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008222", + "label": "Female infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617712", + "label": "Oocyte maturation defect 3" + } + } + ], + "metaData": { + "created": "2024-06-11T22:23:04.032317Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_4_patient_1.json new file mode 100644 index 000000000..b8cfe7ef5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "oocyte_maturation_defect_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008222", + "label": "Female infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617743", + "label": "Oocyte maturation defect 4" + } + } + ], + "metaData": { + "created": "2024-06-11T18:24:50.787412Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_5_patient_1.json new file mode 100644 index 000000000..d7a3a99d9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "oocyte_maturation_defect_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034719", + "label": "Lack of oocyte pronucleus formation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617996", + "label": "Oocyte maturation defect 5" + } + } + ], + "metaData": { + "created": "2024-06-11T23:37:29.117755Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_6_patient_1.json new file mode 100644 index 000000000..69e455436 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_6_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "oocyte_maturation_defect_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0020157", + "label": "Thin zona pellucida" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618353", + "label": "Oocyte maturation defect 6" + } + } + ], + "metaData": { + "created": "2024-06-11T22:22:34.926896Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_7_patient_1.json new file mode 100644 index 000000000..f5822b910 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_7_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "oocyte_maturation_defect_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032571", + "label": "Increased oocyte death" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618550", + "label": "Oocyte maturation defect 7" + } + } + ], + "metaData": { + "created": "2024-06-11T21:05:49.668837Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_8_patient_1.json new file mode 100644 index 000000000..b71a8a6a0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_8_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "oocyte_maturation_defect_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008222", + "label": "Female infertility" + } + }, + { + "type": { + "id": "HP:0033336", + "label": "Zygotic cleavage failure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619009", + "label": "Oocyte maturation defect 8" + } + } + ], + "metaData": { + "created": "2024-06-11T18:14:27.338837Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"HP:0031516", + "label": "Oocyte arrest at metaphase I" + } + }, + { + "type": { + "id": "HP:0033336", + "label": "Zygotic cleavage failure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619011", + "label": "Oocyte maturation defect 9" + } + } + ], + "metaData": { + "created": "2024-06-11T23:37:53.818435Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_patient_1.json new file mode 100644 index 000000000..da9772bb7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_maturation_defect_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "oocyte_maturation_defect", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008222", + "label": "Female infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615774", + "label": "Oocyte maturation defect" + } + } + ], + "metaData": { + "created": "2024-06-12T00:29:39.318775Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_zygote_embryo_maturation_arrest_14_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_zygote_embryo_maturation_arrest_14_patient_1.json new file mode 100644 index 000000000..a6778e668 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_zygote_embryo_maturation_arrest_14_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "oocyte/zygote/embryo_maturation_arrest_14", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008222", + "label": "Female infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620276", + "label": "Oocyte/zygote/embryo maturation arrest 14" + } + } + ], + "metaData": { + "created": "2024-06-11T18:34:53.178509Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_zygote_embryo_maturation_arrest_17_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_zygote_embryo_maturation_arrest_17_patient_1.json new file mode 100644 index 000000000..151403282 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_zygote_embryo_maturation_arrest_17_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "oocyte/zygote/embryo_maturation_arrest_17", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008222", + "label": "Female infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620319", + "label": "Oocyte/zygote/embryo maturation arrest 17" + } + } + ], + "metaData": { + "created": "2024-06-11T22:53:35.546792Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_zygote_embryo_maturation_arrest_18_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_zygote_embryo_maturation_arrest_18_patient_1.json new file mode 100644 index 000000000..3755e9777 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_zygote_embryo_maturation_arrest_18_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "oocyte/zygote/embryo_maturation_arrest_18", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008222", + "label": "Female infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620332", + "label": "Oocyte/zygote/embryo maturation arrest 18" + } + } + ], + "metaData": { + "created": "2024-06-11T23:17:11.115383Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_zygote_embryo_maturation_arrest_19_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_zygote_embryo_maturation_arrest_19_patient_1.json new file mode 100644 index 000000000..30c37aecf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_zygote_embryo_maturation_arrest_19_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "oocyte/zygote/embryo_maturation_arrest_19", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008222", + "label": "Female infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620333", + "label": "Oocyte/zygote/embryo maturation arrest 19" + } + } + ], + "metaData": { + "created": "2024-06-11T23:18:46.888239Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_zygote_embryo_maturation_arrest_20_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_zygote_embryo_maturation_arrest_20_patient_1.json new file mode 100644 index 000000000..c5a2dd6d1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_zygote_embryo_maturation_arrest_20_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "oocyte/zygote/embryo_maturation_arrest_20", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008222", + "label": "Female infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620383", + "label": "Oocyte/zygote/embryo maturation arrest 20" + } + } + ], + "metaData": { + "created": "2024-06-11T22:00:19.494950Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_zygote_embryo_maturation_arrest_21_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_zygote_embryo_maturation_arrest_21_patient_1.json new file mode 100644 index 000000000..703832616 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oocyte_zygote_embryo_maturation_arrest_21_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "oocyte/zygote/embryo_maturation_arrest_21", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008222", + "label": "Female infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620610", + "label": "Oocyte/zygote/embryo maturation arrest 21" + } + } + ], + "metaData": { + "created": "2024-06-11T20:31:23.738184Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmomandibulomelic_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmomandibulomelic_dysplasia_patient_1.json new file mode 100644 index 000000000..aab109f9a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmomandibulomelic_dysplasia_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "ophthalmomandibulomelic_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006169", + "label": "Decreased mobility 3rd-5th fingers" + } + }, + { + "type": { + "id": "HP:0003042", + "label": "Elbow dislocation" + } + }, + { + "type": { + "id": "HP:0006439", + "label": "Radioulnar dislocation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:164900", + "label": "Ophthalmomandibulomelic dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:42:27.368642Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmoplegia_external_and_myopia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmoplegia_external_and_myopia_patient_1.json new file mode 100644 index 000000000..b1d8b990e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmoplegia_external_and_myopia_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "ophthalmoplegia,_external,_and_myopia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030773", + "label": "Internuclear ophthalmoplegia" + } + }, + { + "type": { + "id": "HP:0002522", + "label": "Areflexia of lower limbs" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:311000", + "label": "Ophthalmoplegia, external, and myopia" + } + } + ], + "metaData": { + "created": "2024-06-11T20:35:14.049429Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmoplegia_external_with_rib_and_vertebral_anomalies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmoplegia_external_with_rib_and_vertebral_anomalies_patient_1.json new file mode 100644 index 000000000..5051c69f0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmoplegia_external_with_rib_and_vertebral_anomalies_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "ophthalmoplegia,_external,_with_rib_and_vertebral_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0031721", + "label": "Sensory exotropia" + } + }, + { + "type": { + "id": "HP:0030300", + "label": "10 pairs of ribs" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618155", + "label": "Ophthalmoplegia, external, with rib and vertebral anomalies" + } + } + ], + "metaData": { + "created": "2024-06-11T21:16:45.276135Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmoplegia_familial_static_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmoplegia_familial_static_patient_1.json new file mode 100644 index 000000000..cc8f56ba0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmoplegia_familial_static_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "ophthalmoplegia,_familial_static", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000602", + "label": "Ophthalmoplegia" + } + }, + { + "type": { + "id": "HP:0009916", + "label": "Anisocoria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:165000", + "label": "Ophthalmoplegia, familial static" + } + } + ], + "metaData": { + "created": "2024-06-11T18:50:58.028467Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmoplegia_familial_total_with_iris_transillumination_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmoplegia_familial_total_with_iris_transillumination_patient_1.json new file mode 100644 index 000000000..ccf00de4c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmoplegia_familial_total_with_iris_transillumination_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "ophthalmoplegia,_familial_total,_with_iris_transillumination", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000577", + "label": "Exotropia" + } + }, + { + "type": { + "id": "HP:0000597", + "label": "Ophthalmoparesis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:165098", + "label": "Ophthalmoplegia, familial total, with iris transillumination" + } + } + ], + "metaData": { + "created": "2024-06-11T19:50:08.253047Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmoplegia_progressive_with_scrotal_tongue_and_mental_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmoplegia_progressive_with_scrotal_tongue_and_mental_deficiency_patient_1.json new file mode 100644 index 000000000..d1e8f82e3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmoplegia_progressive_with_scrotal_tongue_and_mental_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ophthalmoplegia,_progressive,_with_scrotal_tongue_and_mental_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007650", + "label": "Progressive ophthalmoplegia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:165150", + "label": "Ophthalmoplegia, progressive, with scrotal tongue and mental deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T23:22:28.667292Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmoplegia_totalis_with_ptosis_and_miosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmoplegia_totalis_with_ptosis_and_miosis_patient_1.json new file mode 100644 index 000000000..c7fc678ce --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmoplegia_totalis_with_ptosis_and_miosis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ophthalmoplegia_totalis_with_ptosis_and_miosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000646", + "label": "Amblyopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:258400", + "label": "Ophthalmoplegia totalis with ptosis and miosis" + } + } + ], + "metaData": { + "created": "2024-06-11T20:35:30.448368Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmoplegic_neuromuscular_disorder_with_abnormal_mitochondria_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmoplegic_neuromuscular_disorder_with_abnormal_mitochondria_patient_1.json new file mode 100644 index 000000000..99174ef7c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ophthalmoplegic_neuromuscular_disorder_with_abnormal_mitochondria_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "ophthalmoplegic_neuromuscular_disorder_with_abnormal_mitochondria", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008316", + "label": "Abnormal mitochondria in muscle tissue" + } + }, + { + "type": { + "id": "HP:0001324", + "label": "Muscle weakness" + } + }, + { + "type": { + "id": "HP:0012373", + "label": "Abnormal eye physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:258470", + "label": "Ophthalmoplegic neuromuscular disorder with abnormal mitochondria" + } + } + ], + "metaData": { + "created": "2024-06-11T17:48:47.970082Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Opitz_GBBB_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Opitz_GBBB_syndrome_patient_1.json new file mode 100644 index 000000000..162440592 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Opitz_GBBB_syndrome_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "opitz_gbbb_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0000047", + "label": "Hypospadias" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0002020", + "label": "Gastroesophageal reflux" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0001320", + "label": "Cerebellar vermis hypoplasia" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:5201015", + "label": "Craniofacial cleft" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300000", + "label": "Opitz GBBB syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:49:25.252299Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Opitz_Kaveggia_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Opitz_Kaveggia_syndrome_patient_1.json new file mode 100644 index 000000000..029643226 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Opitz_Kaveggia_syndrome_patient_1.json @@ -0,0 +1,320 @@ +{ + "id": "opitz-kaveggia_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009466", + "label": "Radial deviation of finger" + } + }, + { + "type": { + "id": "HP:0010055", + "label": "Broad hallux" + } + }, + { + "type": { + "id": "HP:0001537", + "label": "Umbilical hernia" + } + }, + { + "type": { + "id": "HP:0011304", + "label": "Broad thumb" + } + }, + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + }, + { + "type": { + "id": "HP:0001476", + "label": "Delayed closure of the anterior fontanelle" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0000960", + "label": 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@@ -0,0 +1,45 @@ +{ + "id": "optic_atrophy_16", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620629", + "label": "Optic atrophy 16" + } + } + ], + "metaData": { + "created": "2024-06-11T20:03:39.122269Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_2_patient_1.json new file mode 100644 index 000000000..a2ec4199e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_2_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "optic_atrophy_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0003438", + "label": "Absent Achilles reflex" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:311050", + "label": "Optic atrophy 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:01:00.416902Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_3_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_3_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..6f8d402ec --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_3_autosomal_dominant_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "optic_atrophy_3,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + }, + { + "type": { + "id": "HP:0002071", + "label": "Abnormality of extrapyramidal motor function" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0030530", + "label": "Arcuate scotoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:165300", + "label": "Optic atrophy 3, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T20:27:16.934697Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_5_patient_1.json new file mode 100644 index 000000000..37c89f3a6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_5_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "optic_atrophy_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030455", + "label": "Abnormality of pattern visual evoked potentials" + } + }, + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + }, + { + "type": { + "id": "HP:0000543", + "label": "Optic disc pallor" + } + }, + { + "type": { + "id": "HP:0000603", + "label": "Central scotoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610708", + "label": "Optic atrophy 5" + } + } + ], + "metaData": { + "created": "2024-06-11T21:41:59.882658Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_6_patient_1.json new file mode 100644 index 000000000..36897a5fb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_6_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "optic_atrophy_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + }, + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:258500", + "label": "Optic atrophy 6" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:06.223049Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_7_with_or_without_auditory_neuropathy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_7_with_or_without_auditory_neuropathy_patient_1.json new file mode 100644 index 000000000..8fc7e824c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_7_with_or_without_auditory_neuropathy_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "optic_atrophy_7_with_or_without_auditory_neuropathy", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032122", + "label": "Very low visual acuity" + }, + "modifiers": [ + { + "id": "HP:0012832", + "label": "Bilateral" + } + ] + }, + { + "type": { + "id": "HP:0100704", + "label": "Cerebral visual impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612989", + "label": "Optic atrophy 7 with or without auditory neuropathy" + } + } + ], + "metaData": { + "created": "2024-06-11T23:03:00.444066Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_8_patient_1.json new file mode 100644 index 000000000..0d1080374 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_8_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "optic_atrophy_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000603", + "label": "Central scotoma" + } + }, + { + "type": { + "id": "HP:0000572", + "label": "Visual loss" + } + }, + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + }, + { + "type": { + "id": "HP:0006958", + "label": "Abnormal auditory evoked potentials" + } + }, + { + "type": { + "id": "HP:0001634", + "label": "Mitral valve prolapse" + } + }, + { + "type": { + "id": "HP:0007104", + "label": "Prolonged somatosensory evoked potentials" + } + }, + { + "type": { + "id": "HP:0000364", + "label": "Hearing abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616648", + "label": "Optic atrophy 8" + } + } + ], + "metaData": { + "created": "2024-06-11T17:58:03.433788Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_9_patient_1.json new file mode 100644 index 000000000..63e8050df --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_9_patient_1.json @@ -0,0 +1,86 @@ +{ + "id": "optic_atrophy_9", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P25Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000642", + "label": "Red-green dyschromatopsia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011462", + "label": "Young adult onset" + } + } + }, + { + "type": { + "id": "HP:0000543", + "label": "Optic disc pallor" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0030528", + "label": "Paracentral scotoma" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011462", + "label": "Young adult onset" + } + } + }, + { + "type": { + "id": "HP:0007987", + "label": "Progressive visual field defects" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616289", + "label": "Optic atrophy 9" + } + } + ], + "metaData": { + "created": "2024-06-11T18:51:21.468924Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_hearing_loss_and_peripheral_neuropathy_autosomaldominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_hearing_loss_and_peripheral_neuropathy_autosomaldominant_patient_1.json new file mode 100644 index 000000000..f137b9a8a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_hearing_loss_and_peripheral_neuropathy_autosomaldominant_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "optic_atrophy,_hearing_loss,_and_peripheral_neuropathy,_autosomaldominant", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P12Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002166", + "label": "Impaired vibration sensation in the lower limbs" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:165199", + "label": "Optic atrophy, hearing loss, and peripheral neuropathy, autosomaldominant" + } + } + ], + "metaData": { + "created": "2024-06-11T18:00:41.419809Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_spastic_paraplegia_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_spastic_paraplegia_syndrome_patient_1.json new file mode 100644 index 000000000..540921c14 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_spastic_paraplegia_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "optic_atrophy--spastic_paraplegia_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001258", + "label": "Spastic paraplegia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:311100", + "label": "Optic atrophy--spastic paraplegia syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:03.231004Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_with_negative_electroretinograms_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_with_negative_electroretinograms_patient_1.json new file mode 100644 index 000000000..7e253cd54 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_with_negative_electroretinograms_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "optic_atrophy_with_negative_electroretinograms", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007843", + "label": "Attenuation of retinal blood vessels" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:165510", + "label": "Optic atrophy with negative electroretinograms" + } + } + ], + "metaData": { + "created": "2024-06-11T21:00:04.516831Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_with_or_without_deafness_ophthalmoplegia_myopathy_ataxia_and_neuropathy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_with_or_without_deafness_ophthalmoplegia_myopathy_ataxia_and_neuropathy_patient_1.json new file mode 100644 index 000000000..29d20f259 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_atrophy_with_or_without_deafness_ophthalmoplegia_myopathy_ataxia_and_neuropathy_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "optic_atrophy_with_or_without_deafness,_ophthalmoplegia,_myopathy,_ataxia,_and_neuropathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0000666", + "label": "Horizontal nystagmus" + } + }, + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:125250", + "label": "Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy" + } + } + ], + "metaData": { + "created": "2024-06-11T20:05:14.163451Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_disc_anomalies_with_retinal_and_or_macular_dystrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_disc_anomalies_with_retinal_and_or_macular_dystrophy_patient_1.json new file mode 100644 index 000000000..f7002f0df --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_disc_anomalies_with_retinal_and_or_macular_dystrophy_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "optic_disc_anomalies_with_retinal_and/or_macular_dystrophy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000559", + "label": "Corneal scarring" + } + }, + { + "type": { + "id": "HP:0000556", + "label": "Retinal dystrophy" + } + }, + { + "type": { + "id": "HP:0007401", + "label": "Macular atrophy" + } + }, + { + "type": { + "id": "HP:0000616", + "label": "Miosis" + } + }, + { + "type": { + "id": "HP:0000557", + "label": "Buphthalmos" + } + }, + { + "type": { + "id": "HP:0008056", + "label": "Aplasia/Hypoplasia affecting the eye" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:212550", + "label": "Optic disc anomalies with retinal and/or macular dystrophy" + } + } + ], + "metaData": { + "created": "2024-06-11T18:03:06.597464Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_nerve_hypoplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_nerve_hypoplasia_patient_1.json new file mode 100644 index 000000000..3e1f81e19 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Optic_nerve_hypoplasia_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "optic_nerve_hypoplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0032123", + "label": "Ultra-low vision" + } + }, + { + "type": { + "id": "HP:0001123", + "label": "Visual field defect" + } + }, + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:165550", + "label": "Optic nerve hypoplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:32:06.423661Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Opticocochleodentate_degeneration_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Opticocochleodentate_degeneration_patient_1.json new file mode 100644 index 000000000..f6ef32c67 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Opticocochleodentate_degeneration_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "opticocochleodentate_degeneration", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + }, + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0000572", + "label": "Visual loss" + } + }, + { + "type": { + "id": "HP:0002510", + "label": "Spastic tetraplegia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:258700", + "label": "Opticocochleodentate degeneration" + } + } + ], + "metaData": { + "created": "2024-06-11T18:43:28.188980Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oral_sensibility_disturbance_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oral_sensibility_disturbance_of_patient_1.json new file mode 100644 index 000000000..748e1876c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oral_sensibility_disturbance_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "oral_sensibility,_disturbance_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002311", + "label": "Incoordination" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:258800", + "label": "Oral sensibility, disturbance of" + } + } + ], + "metaData": { + "created": "2024-06-11T21:27:16.760439Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Orbital_margin_hypoplasia_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orbital_margin_hypoplasia_of_patient_1.json new file mode 100644 index 000000000..3e34b494a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orbital_margin_hypoplasia_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "orbital_margin,_hypoplasia_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000652", + "label": "Lower eyelid coloboma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:165600", + "label": "Orbital margin, hypoplasia of" + } + } + ], + "metaData": { + "created": "2024-06-11T18:00:25.967668Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ornithine_transcarbamylase_deficiency_hyperammonemia_due_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ornithine_transcarbamylase_deficiency_hyperammonemia_due_to_patient_1.json new file mode 100644 index 000000000..e5c0f7507 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ornithine_transcarbamylase_deficiency_hyperammonemia_due_to_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "ornithine_transcarbamylase_deficiency,_hyperammonemia_due_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033139", + "label": "Elevated circulating uracil concentration" + } + }, + { + "type": { + "id": "HP:0031964", + "label": "Elevated circulating alanine aminotransferase concentration" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0001987", + "label": "Hyperammonemia" + } + }, + { + "type": { + "id": "HP:0002013", + "label": "Vomiting" + } + }, + { + "type": { + "id": "HP:0003217", + "label": "Hyperglutaminemia" + } + }, + { + "type": { + "id": "HP:0001950", + "label": "Respiratory alkalosis" + } + }, + { + "type": { + "id": "HP:6000334", + "label": "Reduced hepatic ornithine transcarbamylase activity" + } + }, + { + "type": { + "id": "HP:0002131", + "label": "Episodic ataxia" + } + }, + { + "type": { + "id": "HP:0008151", + "label": "Prolonged prothrombin time" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0031956", + "label": "Elevated circulating aspartate aminotransferase concentration" + } + }, + { + "type": { + "id": "HP:0003218", + "label": "Oroticaciduria" + } + }, + { + "type": { + "id": "HP:0001951", + "label": "Episodic ammonia intoxication" + } + }, + { + "type": { + "id": "HP:0001325", + "label": "Hypoglycemic coma" + } + }, + { + "type": { + "id": "HP:0002070", + "label": "Limb ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:311250", + "label": "Ornithine transcarbamylase deficiency, hyperammonemia due to" + } + } + ], + "metaData": { + "created": "2024-06-11T23:09:32.767989Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_10_patient_1.json new file mode 100644 index 000000000..8e477788a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_10_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "orofacial_cleft_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100334", + "label": "Unilateral cleft palate" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613705", + "label": "Orofacial cleft 10" + } + } + ], + "metaData": { + "created": "2024-06-11T22:55:36.257297Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_11_patient_1.json new file mode 100644 index 000000000..5b93ea5ce --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_11_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "orofacial_cleft_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600625", + "label": "Orofacial cleft 11" + } + } + ], + "metaData": { + "created": "2024-06-11T23:06:51.629520Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_13_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_13_patient_1.json new file mode 100644 index 000000000..332ebb4c1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_13_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "orofacial_cleft_13", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000272", + "label": "Malar flattening" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613857", + "label": "Orofacial cleft 13" + } + } + ], + "metaData": { + "created": "2024-06-11T22:42:30.995530Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_14_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_14_patient_1.json new file mode 100644 index 000000000..9724b61a9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_14_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "orofacial_cleft_14", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000161", + "label": "Median cleft upper lip" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615892", + "label": "Orofacial cleft 14" + } + } + ], + "metaData": { + "created": "2024-06-11T22:33:46.865597Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_15_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_15_patient_1.json new file mode 100644 index 000000000..ad9d73bbe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_15_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "orofacial_cleft_15", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0100337", + "label": "Bilateral cleft palate" + } + }, + { + "type": { + "id": "HP:0000286", + "label": "Epicanthus" + } + }, + { + "type": { + "id": "HP:0012905", + "label": "Euryblepharon" + } + }, + { + "type": { + "id": "HP:0100336", + "label": "Bilateral cleft lip" + } + }, + { + "type": { + "id": "HP:0000653", + "label": "Sparse eyelashes" + } + }, + { + "type": { + "id": "HP:0007651", + "label": "Ectropion of lower eyelids" + } + }, + { + "type": { + "id": "HP:0010294", + "label": "Palate fistula" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616788", + "label": "Orofacial cleft 15" + } + } + ], + "metaData": { + "created": "2024-06-11T19:43:02.847746Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_1_patient_1.json new file mode 100644 index 000000000..f34a7614a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "orofacial_cleft_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:119530", + "label": "Orofacial cleft 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:50:04.499679Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_3_patient_1.json new file mode 100644 index 000000000..50778d036 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "orofacial_cleft_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000271", + "label": "Abnormality of the face" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600757", + "label": "Orofacial cleft 3" + } + } + ], + "metaData": { + "created": "2024-06-11T23:43:51.937132Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_5_patient_1.json new file mode 100644 index 000000000..24447d61a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_5_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "orofacial_cleft_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608874", + "label": "Orofacial cleft 5" + } + } + ], + "metaData": { + "created": "2024-06-11T23:45:45.989924Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_6_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_6_susceptibility_to_patient_1.json new file mode 100644 index 000000000..9f5e814f9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofacial_cleft_6_susceptibility_to_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "orofacial_cleft_6,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000204", + "label": "Cleft upper lip" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608864", + "label": "Orofacial cleft 6, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T23:13:53.600741Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofaciodigital_syndrome_III_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofaciodigital_syndrome_III_patient_1.json new file mode 100644 index 000000000..a4f6a366c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofaciodigital_syndrome_III_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "orofaciodigital_syndrome_iii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000193", + "label": "Bifid uvula" + } + }, + { + "type": { + "id": "HP:0001830", + "label": "Postaxial foot polydactyly" + } + }, + { + "type": { + "id": "HP:0002808", + "label": "Kyphosis" + } + }, + { + "type": { + "id": "HP:0000879", + "label": "Short sternum" + } + }, + { + "type": { + "id": "HP:0000414", + "label": "Bulbous nose" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000767", + "label": "Pectus excavatum" + } + }, + { + "type": { + "id": "HP:0001336", + "label": "Myoclonus" + } + }, + { + "type": { + "id": "HP:0000199", + "label": "Tongue nodules" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:258850", + "label": "Orofaciodigital syndrome III" + } + } + ], + "metaData": { + "created": "2024-06-11T18:57:20.606923Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofaciodigital_syndrome_IV_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofaciodigital_syndrome_IV_patient_1.json new file mode 100644 index 000000000..cc372bb6d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofaciodigital_syndrome_IV_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "orofaciodigital_syndrome_iv", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000199", + "label": "Tongue nodules" + } + }, + { + "type": { + "id": "HP:0002132", + "label": "Porencephalic cyst" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0009381", + "label": "Short finger" + } + }, + { + "type": { + "id": "HP:0001770", + "label": "Toe syndactyly" + } + }, + { + "type": { + "id": "HP:0000191", + "label": "Accessory oral frenulum" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0100648", + "label": "Neoplasm of the tongue" + } + }, + { + "type": { + "id": "HP:0000537", + "label": "Epicanthus inversus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:258860", + "label": "Orofaciodigital syndrome IV" + } + } + ], + "metaData": { + "created": "2024-06-11T22:41:11.849333Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofaciodigital_syndrome_IX_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofaciodigital_syndrome_IX_patient_1.json new file mode 100644 index 000000000..52b504489 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofaciodigital_syndrome_IX_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "orofaciodigital_syndrome_ix", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012385", + "label": "Camptodactyly" + } + }, + { + "type": { + "id": "HP:0002100", + "label": "Recurrent aspiration pneumonia" + } + }, + { + "type": { + "id": "HP:0000480", + "label": "Retinal coloboma" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0009971", + "label": "Polydactyly affecting the 4th finger" + } + }, + { + "type": { + "id": "HP:0000191", + "label": "Accessory oral frenulum" + } + }, + { + "type": { + "id": "HP:0000506", + "label": "Telecanthus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:258865", + "label": "Orofaciodigital syndrome IX" + } + } + ], + "metaData": { + "created": "2024-06-11T23:56:44.167750Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofaciodigital_syndrome_I_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofaciodigital_syndrome_I_patient_1.json new file mode 100644 index 000000000..d5a5a7a9b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofaciodigital_syndrome_I_patient_1.json @@ -0,0 +1,152 @@ +{ + "id": "orofaciodigital_syndrome_i", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P54Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000670", + "label": "Carious teeth" + } + }, + { + "type": { + "id": "HP:0009466", + "label": "Radial deviation of finger" + } + }, + { + "type": { + "id": "HP:0000093", + "label": "Proteinuria" + } + }, + { + "type": { + "id": "HP:0000199", + "label": "Tongue nodules" + } + }, + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + } + }, + { + "type": { + "id": "HP:0100702", + "label": "Arachnoid cyst" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0006349", + "label": "Agenesis of permanent teeth" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0002059", + "label": "Cerebral atrophy" + } + }, + { + "type": { + "id": "HP:0002617", + "label": "Vascular dilatation" + } + }, + { + "type": { + "id": "HP:0000138", + "label": "Ovarian cyst" + } + }, + { + "type": { + "id": "HP:0000506", + "label": "Telecanthus" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0002536", + "label": "Abnormal cortical gyration" + } + }, + { + "type": { + "id": "HP:0001274", + "label": "Agenesis of corpus callosum" + } + }, + { + "type": { + "id": "HP:0000430", + "label": "Underdeveloped nasal alae" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:311200", + "label": "Orofaciodigital syndrome I" + } + } + ], + "metaData": { + "created": "2024-06-11T20:41:34.387991Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofaciodigital_syndrome_VIII_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofaciodigital_syndrome_VIII_patient_1.json new file mode 100644 index 000000000..bbc4b0e65 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofaciodigital_syndrome_VIII_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "orofaciodigital_syndrome_viii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001159", + "label": "Syndactyly" + } + }, + { + "type": { + "id": "HP:0002100", + "label": "Recurrent aspiration pneumonia" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0010566", + "label": "Hamartoma" + } + }, + { + "type": { + "id": "HP:0000456", + "label": "Bifid nasal tip" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0005349", + "label": "Hypoplasia of the epiglottis" + } + }, + { + "type": { + "id": "HP:0000455", + "label": "Broad nasal tip" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001056", + "label": "Milia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300484", + "label": "Orofaciodigital syndrome VIII" + } + } + ], + "metaData": { + "created": "2024-06-11T19:45:19.769661Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofaciodigital_syndrome_VI_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofaciodigital_syndrome_VI_patient_1.json new file mode 100644 index 000000000..035e2658f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofaciodigital_syndrome_VI_patient_1.json @@ -0,0 +1,183 @@ +{ + "id": "orofaciodigital_syndrome_vi", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002126", + "label": "Polymicrogyria" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0001841", + "label": "Preaxial foot polydactyly" + } + }, + { + "type": { + "id": "HP:0000565", + "label": "Esotropia" + } + }, + { + "type": { + "id": "HP:0100259", + "label": "Postaxial polydactyly" + } + }, + { + "type": { + "id": "HP:0001162", + "label": "Postaxial hand polydactyly" + } + }, + { + "type": { + "id": "HP:0001321", + "label": "Cerebellar hypoplasia" + } + }, + { + "type": { + "id": "HP:0000455", + "label": "Broad nasal tip" + } + }, + { + "type": { + "id": "HP:0001177", + "label": "Preaxial hand polydactyly" + } + }, + { + "type": { + "id": "HP:0008678", + "label": "Renal hypoplasia/aplasia" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + } + }, + { + "type": { + "id": "HP:0008866", + "label": "Failure to thrive secondary to recurrent infections" + } + }, + { + "type": { + "id": "HP:0005922", + "label": "Abnormal hand morphology" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0002139", + "label": "Arrhinencephaly" + } + }, + { + "type": { + "id": "HP:0002444", + "label": "Hypothalamic hamartoma" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0002419", + "label": "Molar tooth sign on MRI" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0006889", + "label": "Intellectual disability, borderline" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:277170", + "label": "Orofaciodigital syndrome VI" + } + } + ], + "metaData": { + "created": "2024-06-11T21:51:27.580567Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofaciodigital_syndrome_V_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofaciodigital_syndrome_V_patient_1.json new file mode 100644 index 000000000..40331d911 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orofaciodigital_syndrome_V_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "orofaciodigital_syndrome_v", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0000180", + "label": "Lobulated tongue" + } + }, + { + "type": { + "id": "HP:0011342", + "label": "Mild global developmental delay" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0030809", + "label": "Abnormal tongue morphology" + } + }, + { + "type": { + "id": "HP:0033994", + "label": "Dependency on parenteral nutrition" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0003423", + "label": "Thoracolumbar kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0000193", + "label": "Bifid uvula" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:174300", + "label": "Orofaciodigital syndrome V" + } + } + ], + "metaData": { + "created": "2024-06-11T23:03:56.485021Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + 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"label": "Abnormal circulating metabolite concentration" + } + }, + { + "type": { + "id": "HP:0001998", + "label": "Neonatal hypoglycemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:223360", + "label": "Orthostatic hypotension 1, due to DBH deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T18:17:18.806354Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Orthostatic_hypotension_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orthostatic_hypotension_2_patient_1.json new file mode 100644 index 000000000..9288639aa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orthostatic_hypotension_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "orthostatic_hypotension_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001278", + "label": "Orthostatic hypotension" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618182", + "label": "Orthostatic hypotension 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:14:50.435516Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Orthostatic_hypotensive_disorder_Streeten_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orthostatic_hypotensive_disorder_Streeten_type_patient_1.json new file mode 100644 index 000000000..a51b484b1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orthostatic_hypotensive_disorder_Streeten_type_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "orthostatic_hypotensive_disorder,_streeten_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0001041", + "label": "Facial erythema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:143850", + "label": "Orthostatic hypotensive disorder, Streeten type" + } + } + ], + "metaData": { + "created": "2024-06-11T20:48:17.754163Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Orthostatic_intolerance_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orthostatic_intolerance_patient_1.json new file mode 100644 index 000000000..94ed7798d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Orthostatic_intolerance_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "orthostatic_intolerance", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003345", + "label": "Elevated urinary norepinephrine level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604715", + "label": "Orthostatic intolerance" + } + } + ], + "metaData": { + "created": "2024-06-11T17:49:53.940345Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osseous_heteroplasia_progressive_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "osseous_heteroplasia,_progressive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009826", + "label": "Limb undergrowth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:166350", + "label": "Osseous heteroplasia, progressive" + } + } + ], + "metaData": { + "created": "2024-06-11T20:32:19.945213Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ossicular_malformations_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ossicular_malformations_familial_patient_1.json new file mode 100644 index 000000000..4fc3c034a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ossicular_malformations_familial_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ossicular_malformations,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004452", + "label": "Abnormality of the middle ear ossicles" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:165680", + "label": "Ossicular malformations, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T21:08:00.065770Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ossification_of_the_posterior_longitudinal_ligament_of_spine_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ossification_of_the_posterior_longitudinal_ligament_of_spine_patient_1.json new file mode 100644 index 000000000..4482d1bd1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ossification_of_the_posterior_longitudinal_ligament_of_spine_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "ossification_of_the_posterior_longitudinal_ligament_of_spine", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0002176", + "label": "Spinal cord compression" + } + }, + { + "type": { + "id": "HP:0011986", + "label": "Ectopic ossification" + } + }, + { + "type": { + "id": "HP:0002196", + "label": "Myelopathy" + } + }, + { + "type": { + "id": "HP:0000819", + "label": "Diabetes mellitus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602475", + "label": "Ossification of the posterior longitudinal ligament of spine" + } + } + ], + "metaData": { + "created": "2024-06-11T19:29:12.856815Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ossified_ear_cartilages_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ossified_ear_cartilages_patient_1.json new file mode 100644 index 000000000..7cc710f09 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ossified_ear_cartilages_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ossified_ear_cartilages", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000598", + "label": "Abnormality of the ear" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:165670", + "label": "Ossified ear cartilages" + } + } + ], + "metaData": { + "created": "2024-06-11T20:23:26.541040Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteoarthritis_of_distal_interphalangeal_joints_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteoarthritis_of_distal_interphalangeal_joints_patient_1.json new file mode 100644 index 000000000..acb80835c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteoarthritis_of_distal_interphalangeal_joints_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "osteoarthritis_of_distal_interphalangeal_joints", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012313", + "label": "Heberden's node" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:140600", + "label": "Osteoarthritis of distal interphalangeal joints" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:09.202654Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteoarthritis_susceptibility_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteoarthritis_susceptibility_1_patient_1.json new file mode 100644 index 000000000..3c8e59af7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteoarthritis_susceptibility_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "osteoarthritis_susceptibility_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008843", + "label": "Hip osteoarthritis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:165720", + "label": "Osteoarthritis susceptibility 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:31:46.200149Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteoarthritis_with_mild_chondrodysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteoarthritis_with_mild_chondrodysplasia_patient_1.json new file mode 100644 index 000000000..8bfc24c20 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteoarthritis_with_mild_chondrodysplasia_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "osteoarthritis_with_mild_chondrodysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012313", + "label": "Heberden's node" + } + }, + { + "type": { + "id": "HP:0005086", + "label": "Knee osteoarthritis" + } + }, + { + "type": { + "id": "HP:0008843", + "label": "Hip osteoarthritis" + } + }, + { + "type": { + "id": "HP:0000926", + "label": "Platyspondyly" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:0008476", + "label": "Irregular sclerotic endplates" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604864", + "label": "Osteoarthritis with mild chondrodysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:11:45.178715Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": 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"namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteochondrodysplasia_complex_lethal_Symoens_Barnes_Gistelinck_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteochondrodysplasia_complex_lethal_Symoens_Barnes_Gistelinck_type_patient_1.json new file mode 100644 index 000000000..a48c01fe1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteochondrodysplasia_complex_lethal_Symoens_Barnes_Gistelinck_type_patient_1.json @@ -0,0 +1,225 @@ +{ + "id": "osteochondrodysplasia,_complex_lethal,_symoens-barnes-gistelinck_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001639", + "label": "Hypertrophic cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0002265", + "label": "Large fleshy ears" + } + }, + { + "type": { + "id": 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file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteochondrodysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteochondrodysplasia_patient_1.json new file mode 100644 index 000000000..e6c2a14e2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteochondrodysplasia_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "osteochondrodysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002970", + "label": "Genu varum" + } + }, + { + "type": { + "id": "HP:0000939", + "label": "Osteoporosis" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0003021", + "label": "Metaphyseal cupping" + } + }, + { + "type": { + "id": "HP:0010049", + "label": "Short metacarpal" + } + }, + { + "type": { + "id": "HP:0000926", + "label": "Platyspondyly" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": 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000000000..dbb58c50c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteofibrous_dysplasia_susceptibility_to_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "osteofibrous_dysplasia,_susceptibility_to", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002659", + "label": "Increased susceptibility to fractures" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0011314", + "label": "Abnormal long bone morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607278", + "label": "Osteofibrous dysplasia, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T20:33:36.674939Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteogenesis_imperfecta_congenita_microcephaly_and_cataracts_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "osteogenesis_imperfecta_congenita,_microcephaly,_and_cataracts", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000767", + "label": "Pectus excavatum" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0002659", + "label": "Increased susceptibility to fractures" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:259410", + "label": "Osteogenesis imperfecta congenita, microcephaly, and cataracts" + } + } + ], + "metaData": { + "created": "2024-06-11T22:54:39.471925Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteogenesis_imperfecta_type_IV_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteogenesis_imperfecta_type_IV_patient_1.json new file mode 100644 index 000000000..af2fc201b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteogenesis_imperfecta_type_IV_patient_1.json @@ -0,0 +1,92 @@ +{ + "id": "osteogenesis_imperfecta,_type_iv", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0000592", + "label": "Blue sclerae" + } + }, + { + "type": { + "id": "HP:0003084", + "label": "Fractures of the long bones" + } + }, + { + "type": { + "id": "HP:0002645", + "label": "Wormian bones" + } + }, + { + "type": { + "id": "HP:3000050", + "label": "Abnormal odontoid tissue 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteogenesis_imperfecta_type_V_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "osteogenesis_imperfecta,_type_v", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001763", + "label": "Pes planus" + } + }, + { + "type": { + "id": "HP:0002644", + "label": "Abnormal pelvic girdle bone morphology" + } + }, + { + "type": { + "id": "HP:0001187", + "label": "Hyperextensibility of the finger joints" + } + }, + { + "type": { + "id": "HP:0010485", + "label": "Hyperextensibility at elbow" + } + }, + { + "type": { + "id": "HP:0005084", + "label": "Anterior radial head dislocation" + } + }, + { + "type": { + "id": "HP:0002645", + "label": "Wormian bones" + } + }, + { + "type": { + "id": "HP:0002996", + "label": "Limited elbow movement" + } + }, + { + "type": { + "id": "HP:0041231", + "label": "Fractured metatarsal bone of digit 1" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + 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+ }, + { + "type": { + "id": "HP:0000358", + "label": "Posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0000592", + "label": "Blue sclerae" + } + }, + { + "type": { + "id": "HP:0008070", + "label": "Sparse hair" + } + }, + { + "type": { + "id": "HP:0001555", + "label": "Asymmetry of the thorax" + } + }, + { + "type": { + "id": "HP:0000189", + "label": "Narrow palate" + } + }, + { + "type": { + "id": "HP:0008909", + "label": "Lethal short-limbed short stature" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0002705", + "label": "High, narrow palate" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + } + }, + { + "type": { + "id": "HP:0000774", + "label": "Narrow chest" + } + }, + { + "type": { + "id": "HP:0002553", + "label": "Highly arched eyebrow" + } + }, + { + "type": { + "id": 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"namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteogenesis_imperfecta_type_X_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteogenesis_imperfecta_type_X_patient_1.json new file mode 100644 index 000000000..6d0f136f7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteogenesis_imperfecta_type_X_patient_1.json @@ -0,0 +1,165 @@ +{ + "id": "osteogenesis_imperfecta,_type_x", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + 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"osteoma_of_middle_ear", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000598", + "label": "Abnormality of the ear" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:259650", + "label": "Osteoma of middle ear" + } + } + ], + "metaData": { + "created": "2024-06-11T19:38:06.034055Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteomas_of_mandible_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteomas_of_mandible_patient_1.json new file mode 100644 index 000000000..5a69e6c6a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteomas_of_mandible_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "osteomas_of_mandible", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000277", + "label": "Abnormal mandible morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:166400", + "label": "Osteomas of mandible" + } + } + ], + "metaData": { + "created": "2024-06-11T22:32:31.094776Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { 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"id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000592", + "label": "Blue sclerae" + } + }, + { + "type": { + "id": "HP:0011843", + "label": "Abnormal musculoskeletal physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619377", + "label": "Osteootohepatoenteric syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:29:54.180141Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteopathia_striata_with_cranial_sclerosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteopathia_striata_with_cranial_sclerosis_patient_1.json new file mode 100644 index 000000000..6b35f1a14 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteopathia_striata_with_cranial_sclerosis_patient_1.json @@ -0,0 +1,279 @@ +{ + "id": "osteopathia_striata_with_cranial_sclerosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006784", + "label": "Paranasal sinus hypoplasia" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0001643", + "label": "Patent ductus arteriosus" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0002990", + "label": "Fibular aplasia" + } + }, + { + "type": { + "id": "HP:0031093", + "label": "Abnormal 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteopenia_and_sparse_hair_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "osteopenia_and_sparse_hair", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000271", + "label": "Abnormality of the face" + } + }, + { + "type": { + "id": "HP:0002761", + "label": "Generalized joint hypermobility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:259690", + "label": "Osteopenia and sparse hair" + } + } + ], + "metaData": { + "created": "2024-06-11T20:06:49.812313Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteopetrosis_autosomal_dominant_3_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "osteopetrosis,_autosomal_dominant_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002684", + "label": "Thickened calvaria" + } + }, + { + "type": { + "id": "HP:0000917", + "label": "Superior pectus carinatum" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0000230", + "label": "Gingivitis" + } + }, + { + "type": { + "id": "HP:0006480", + "label": "Premature loss of teeth" + } + }, + { + "type": { + "id": "HP:0006268", + "label": "Fluctuating splenomegaly" + } + }, + { + "type": { + "id": "HP:0410042", + "label": "Abnormal liver morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618107", + "label": "Osteopetrosis, autosomal dominant 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:06:55.003460Z", 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteopetrosis_autosomal_recessive_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteopetrosis_autosomal_recessive_3_patient_1.json new file mode 100644 index 000000000..8f91cb679 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteopetrosis_autosomal_recessive_3_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "osteopetrosis,_autosomal_recessive_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011002", + "label": "Osteopetrosis" + } + }, + { + "type": { + "id": "HP:0000689", + "label": "Dental malocclusion" + } + }, + { + "type": { + "id": "HP:0003148", + "label": "Elevated serum acid phosphatase" + } + }, + { + "type": { + "id": "HP:0004916", + "label": "Generalized distal tubular acidosis" + } + }, + { + "type": { + "id": "HP:0003502", + "label": "Mild short stature" + } + }, + { + "type": { + "id": "HP:0010766", + "label": "Ectopic 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteopetrosis_autosomal_recessive_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteopetrosis_autosomal_recessive_4_patient_1.json new file mode 100644 index 000000000..2e432a6fb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteopetrosis_autosomal_recessive_4_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "osteopetrosis,_autosomal_recessive_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011002", + "label": "Osteopetrosis" + } + }, + { + "type": { + "id": "HP:0011873", + "label": "Abnormal platelet count" + } + }, + { + "type": { + "id": "HP:0500087", + "label": "Peripapillary atrophy" + } + }, + { + "type": { + "id": "HP:0001474", + "label": "Sclerotic scapulae" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611490", + "label": "Osteopetrosis, autosomal recessive 4" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteopetrosis_autosomal_recessive_5_patient_1.json @@ -0,0 +1,189 @@ +{ + "id": "osteopetrosis,_autosomal_recessive_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001974", + "label": "Leukocytosis" + } + }, + { + "type": { + "id": "HP:0011002", + "label": "Osteopetrosis" + } + }, + { + "type": { + "id": "HP:0002421", + "label": "Poor head control" + } + }, + { + "type": { + "id": "HP:0000737", + "label": "Irritability" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0002059", + "label": "Cerebral atrophy" + } + }, + { + "type": { + "id": "HP:0007204", + "label": "Diffuse white matter abnormalities" + } + }, + { + "type": { + "id": "HP:0001276", + "label": "Hypertonia" + } + }, + { + "type": { + "id": "HP:0000321", + "label": "Square face" + } + }, + { + "type": { + "id": "HP:0030043", + "label": "Hip subluxation" + } + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteopetrosis_autosomal_recessive_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteopetrosis_autosomal_recessive_6_patient_1.json new file mode 100644 index 000000000..0da9c9429 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteopetrosis_autosomal_recessive_6_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "osteopetrosis,_autosomal_recessive_6", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P7Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011002", + "label": "Osteopetrosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611497", + "label": "Osteopetrosis, autosomal recessive 6" + } + } + ], + "metaData": { + "created": "2024-06-11T18:22:53.585435Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"id": "HP:0002199", + "label": "Hypocalcemic seizures" + } + }, + { + "type": { + "id": "HP:0000520", + "label": "Proptosis" + } + }, + { + "type": { + "id": "HP:0000529", + "label": "Progressive visual loss" + } + }, + { + "type": { + "id": "HP:6000655", + "label": "Femoral neck fracture" + } + }, + { + "type": { + "id": "HP:0011002", + "label": "Osteopetrosis" + } + }, + { + "type": { + "id": "HP:0010862", + "label": "Delayed fine motor development" + } + }, + { + "type": { + "id": "HP:0000823", + "label": "Delayed puberty" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612301", + "label": "Osteopetrosis, autosomal recessive 7" + } + } + ], + "metaData": { + "created": "2024-06-11T19:56:32.773285Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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} + }, + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0410042", + "label": "Abnormal liver morphology" + } + }, + { + "type": { + "id": "HP:0033074", + "label": "Steroid-responsive anemia" + } + }, + { + "type": { + "id": "HP:0007958", + "label": "Optic atrophy from cranial nerve compression" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615085", + "label": "Osteopetrosis, autosomal recessive 8" + } + } + ], + "metaData": { + "created": "2024-06-11T20:35:16.119719Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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"https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteopoikilosis_and_dacryocystitis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteopoikilosis_and_dacryocystitis_patient_1.json new file mode 100644 index 000000000..b12fb5cfa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteopoikilosis_and_dacryocystitis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "osteopoikilosis_and_dacryocystitis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000620", + "label": "Dacryocystitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:166705", + "label": "Osteopoikilosis and dacryocystitis" + } + } + ], + "metaData": { + "created": "2024-06-11T22:43:07.597097Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + 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"osteoporosis,_childhood-_or_juvenile-onset,_with_developmental_delay", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0002540", + "label": "Inability to walk" + } + }, + { + "type": { + "id": "HP:0001622", + "label": "Premature birth" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000938", + "label": "Osteopenia" + } + }, + { + "type": { + "id": "HP:0002342", + "label": "Intellectual disability, moderate" + } + }, + { + "type": { + "id": "HP:0002538", + "label": "Abnormal cerebral cortex morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619884", + "label": "Osteoporosis, childhood- or juvenile-onset, with developmental delay" + } + } + ], + "metaData": { + "created": "2024-06-11T21:54:51.174279Z", + 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"osteoporosis-pseudoglioma_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000667", + "label": "Phthisis bulbi" + } + }, + { + "type": { + "id": "HP:0004349", + "label": "Reduced bone mineral density" + } + }, + { + "type": { + "id": "HP:0003498", + "label": "Disproportionate short stature" + } + }, + { + "type": { + "id": "HP:0009062", + "label": "Infantile axial hypotonia" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0004485", + "label": "Cessation of head growth" + } + }, + { + "type": { + "id": "HP:0001627", + "label": "Abnormal heart morphology" + } + }, + { + "type": { + "id": "HP:0007862", + "label": "Retinal calcification" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + } + ], + "diseases": [ + { + "term": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteosarcoma_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "osteosarcoma", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002669", + "label": "Osteosarcoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:259500", + "label": "Osteosarcoma" + } + } + ], + "metaData": { + "created": "2024-06-11T21:52:44.609007Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteosclerosis_ichthyosis_premature_ovarian_failure_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteosclerosis_ichthyosis_premature_ovarian_failure_patient_1.json new file mode 100644 index 000000000..de5540545 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteosclerosis_ichthyosis_premature_ovarian_failure_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "osteosclerosis_-_ichthyosis_-_premature_ovarian_failure", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008724", + "label": "Hypoplasia of the ovary" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609993", + "label": "Osteosclerosis - ichthyosis - premature ovarian failure" + } + } + ], + "metaData": { + "created": "2024-06-11T23:15:47.260483Z", + "createdBy": 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+{ + "id": "osteosclerosis_with_ichthyosis_and_fractures", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002982", + "label": "Tibial bowing" + } + }, + { + "type": { + "id": "HP:0011001", + "label": "Increased bone mineral density" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:166740", + "label": "Osteosclerosis with ichthyosis and fractures" + } + } + ], + "metaData": { + "created": "2024-06-11T20:37:44.206256Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteosclerotic_metaphyseal_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteosclerotic_metaphyseal_dysplasia_patient_1.json new file mode 100644 index 000000000..30c827968 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Osteosclerotic_metaphyseal_dysplasia_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "osteosclerotic_metaphyseal_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001265", + "label": "Hyporeflexia" + } + }, + { + "type": { + "id": "HP:0011844", + "label": "Abnormal appendicular skeleton morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615198", + "label": "Osteosclerotic metaphyseal dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-12T01:59:40.006150Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Otitis_media_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otitis_media_susceptibility_to_patient_1.json new file mode 100644 index 000000000..6dcb0d2d0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otitis_media_susceptibility_to_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "otitis_media,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000403", + "label": "Recurrent otitis media" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:166760", + "label": "Otitis media, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T21:52:33.520486Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Otodental_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otodental_dysplasia_patient_1.json new file mode 100644 index 000000000..3d0a21d2b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otodental_dysplasia_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "otodental_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000684", + "label": "Delayed eruption of teeth" + } + }, + { + "type": { + "id": "HP:0000276", + "label": "Long face" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0000589", + "label": "Coloboma" + } + }, + { + "type": { + "id": "HP:0003771", + "label": "Pulp calcification" + } + }, + { + "type": { + "id": "HP:0011053", + "label": "Agenesis of mandibular premolar" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:166750", + "label": "Otodental dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T19:47:58.679622Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Otofaciocervical_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otofaciocervical_syndrome_2_patient_1.json new file mode 100644 index 000000000..cecaf7ae5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otofaciocervical_syndrome_2_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "otofaciocervical_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0000107", + "label": "Renal cyst" + } + }, + { + "type": { + "id": "HP:0011389", + "label": "Functional abnormality of the inner ear" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615560", + "label": "Otofaciocervical syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:55:27.508339Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Otofaciocervical_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otofaciocervical_syndrome_patient_1.json new file mode 100644 index 000000000..a05a73fbb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otofaciocervical_syndrome_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "otofaciocervical_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004467", + "label": "Preauricular pit" + } + }, + { + "type": { + "id": "HP:0000276", + "label": "Long face" + } + }, + { + "type": { + "id": "HP:0000174", + "label": "Abnormal palate morphology" + } + }, + { + "type": { + "id": "HP:0200021", + "label": "Down-sloping shoulders" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:166780", + "label": "Otofaciocervical syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:02:11.650764Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Otoonychoperoneal_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otoonychoperoneal_syndrome_patient_1.json new file mode 100644 index 000000000..cd4d9bea5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otoonychoperoneal_syndrome_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "otoonychoperoneal_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0000400", + "label": "Macrotia" + } + }, + { + "type": { + "id": "HP:0012853", + "label": "Scrotal hypospadias" + } + }, + { + "type": { + "id": "HP:0000598", + "label": "Abnormality of the ear" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + }, + { + "type": { + "id": "HP:0006466", + "label": "Ankle flexion contracture" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:259780", + "label": "Otoonychoperoneal syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:01:14.804768Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Otopalatodigital_syndrome_type_II_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otopalatodigital_syndrome_type_II_patient_1.json new file mode 100644 index 000000000..86cda22c3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otopalatodigital_syndrome_type_II_patient_1.json @@ -0,0 +1,225 @@ +{ + "id": "otopalatodigital_syndrome,_type_ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011645", + "label": "Dilatation of the sinus of Valsalva" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + }, + { + "type": { + "id": "HP:0002645", + "label": "Wormian bones" + } + }, + { + "type": { + "id": "HP:0008087", + "label": "Nonossified fifth metatarsal" + } + }, + { + "type": { + "id": "HP:0003031", + "label": "Ulnar bowing" + } + }, + { + "type": { + "id": "HP:0000238", + "label": "Hydrocephalus" + } + }, + { + "type": { + "id": "HP:0010557", + "label": "Overlapping fingers" + } + }, + { + "type": { + "id": "HP:0002751", + "label": "Kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0001476", + "label": "Delayed closure of the anterior fontanelle" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0011844", + "label": "Abnormal appendicular skeleton morphology" + } + }, + { + "type": { + "id": "HP:0006492", + "label": "Aplasia/Hypoplasia of the fibula" + } + }, + { + "type": { + "id": "HP:0001838", + "label": "Rocker bottom foot" + } + }, + { + "type": { + "id": "HP:0034393", + "label": "Elbow extension contracture" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:5201015", + "label": "Craniofacial cleft" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0012373", + "label": "Abnormal eye physiology" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0200006", + "label": "Slanting of the palpebral fissure" + } + }, + { + "type": { + "id": "HP:0100857", + "label": "Flat sella turcica" + } + }, + { + "type": { + "id": "HP:0000349", + "label": "Widow's peak" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + }, + { + "type": { + "id": "HP:0002979", + "label": "Bowing of the legs" + } + }, + { + "type": { + "id": "HP:0000272", + "label": "Malar flattening" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0006414", + "label": "Distal tibial bowing" + } + }, + { + "type": { + "id": "HP:0000160", + "label": "Narrow mouth" + } + }, + { + "type": { + "id": "HP:0025571", + "label": "Christmas tree cataract" + } + } + ], 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000000000..f40677e08 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otopalatodigital_syndrome_type_I_patient_1.json @@ -0,0 +1,195 @@ +{ + "id": "otopalatodigital_syndrome,_type_i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005090", + "label": "Lateral femoral bowing" + } + }, + { + "type": { + "id": "HP:0002827", + "label": "Hip dislocation" + } + }, + { + "type": { + "id": "HP:0010047", + "label": "Short 5th metacarpal" + } + }, + { + "type": { + "id": "HP:0001241", + "label": "Capitate-hamate fusion" + } + }, + { + "type": { + "id": "HP:0003196", + "label": "Short nose" + } + }, + { + "type": { + "id": "HP:0012368", + "label": "Flat face" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0004232", + "label": "Accessory carpal bones" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + 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"namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Otosclerosis_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otosclerosis_10_patient_1.json new file mode 100644 index 000000000..10a82b485 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otosclerosis_10_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "otosclerosis_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000362", + "label": "Otosclerosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615589", + "label": "Otosclerosis 10" + } + } + ], + "metaData": { + "created": "2024-06-12T00:13:36.190090Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Otosclerosis_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otosclerosis_11_patient_1.json new file mode 100644 index 000000000..f381e969f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otosclerosis_11_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "otosclerosis_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000362", + "label": "Otosclerosis" + } + }, + { + "type": { + "id": "HP:0000408", + "label": "Progressive sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620576", + "label": "Otosclerosis 11" + } + } + ], + "metaData": { + "created": "2024-06-11T19:47:46.016554Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Otosclerosis_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otosclerosis_3_patient_1.json new file mode 100644 index 000000000..26ed1e8bf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otosclerosis_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "otosclerosis_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608244", + "label": "Otosclerosis 3" + } + } + ], + "metaData": { + "created": "2024-06-11T22:41:54.719412Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Otosclerosis_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otosclerosis_4_patient_1.json new file mode 100644 index 000000000..f7b55dfcc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otosclerosis_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "otosclerosis_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000410", + "label": "Mixed hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611571", + "label": "Otosclerosis 4" + } + } + ], + "metaData": { + "created": "2024-06-11T22:20:37.637255Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Otosclerosis_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otosclerosis_7_patient_1.json new file mode 100644 index 000000000..4d50817e1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otosclerosis_7_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "otosclerosis_7", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P33Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011474", + "label": "Childhood onset sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611572", + "label": "Otosclerosis 7" + } + } + ], + "metaData": { + "created": "2024-06-11T21:53:51.424020Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Otosclerosis_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otosclerosis_8_patient_1.json new file mode 100644 index 000000000..452a44903 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otosclerosis_8_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "otosclerosis_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612096", + "label": "Otosclerosis 8" + } + } + ], + "metaData": { + "created": "2024-06-11T21:06:25.172975Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Otospondylomegaepiphyseal_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otospondylomegaepiphyseal_dysplasia_patient_1.json new file mode 100644 index 000000000..d36717dfb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Otospondylomegaepiphyseal_dysplasia_patient_1.json @@ -0,0 +1,164 @@ +{ + "id": "otospondylomegaepiphyseal_dysplasia", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005003", + "label": "Aplasia/Hypoplasia of the capital femoral epiphysis" + } + }, + { + "type": { + "id": "HP:0000336", + "label": "Prominent supraorbital ridges" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0000414", + "label": "Bulbous nose" + } + }, + { + "type": { + "id": "HP:0002938", + "label": "Lumbar hyperlordosis" + } + }, + { + "type": { + "id": "HP:0000520", + "label": "Proptosis" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0002783", + "label": "Recurrent lower respiratory tract infections" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0004679", + "label": "Large tarsal bones" + } + }, + { + "type": { + "id": "HP:0003088", + "label": "Premature osteoarthritis" + } + }, + { + "type": { + "id": "HP:0012531", + "label": "Pain" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0000272", + "label": "Malar flattening" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0010047", + "label": "Short 5th metacarpal" + } + }, + { + "type": { + "id": "HP:0011314", + "label": "Abnormal long bone morphology" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0005918", + "label": "Abnormal finger phalanx morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:215150", + "label": "Otospondylomegaepiphyseal dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-12T01:24:29.465056Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovalocytosis_hereditary_hemolytic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovalocytosis_hereditary_hemolytic_patient_1.json new file mode 100644 index 000000000..2fa15015a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovalocytosis_hereditary_hemolytic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ovalocytosis,_hereditary_hemolytic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004445", + "label": "Elliptocytosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:166900", + "label": "Ovalocytosis, hereditary hemolytic" + } + } + ], + "metaData": { + "created": "2024-06-11T18:08:57.594078Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovalocytosis_hereditary_hemolytic_with_defective_erythropoiesis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovalocytosis_hereditary_hemolytic_with_defective_erythropoiesis_patient_1.json new file mode 100644 index 000000000..8af30ad09 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovalocytosis_hereditary_hemolytic_with_defective_erythropoiesis_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "ovalocytosis,_hereditary_hemolytic,_with_defective_erythropoiesis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004822", + "label": "Atypical elliptocytosis" + } + }, + { + "type": { + "id": "HP:0005522", + "label": "Pyridoxine-responsive sideroblastic anemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:166910", + "label": "Ovalocytosis, hereditary hemolytic, with defective erythropoiesis" + } + } + ], + "metaData": { + "created": "2024-06-11T18:55:37.004976Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_cancer_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_cancer_patient_1.json new file mode 100644 index 000000000..98631e3fb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_cancer_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ovarian_cancer", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100621", + "label": "Dysgerminoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:167000", + "label": "Ovarian cancer" + } + } + ], + "metaData": { + "created": "2024-06-11T18:23:55.469489Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_10_patient_1.json new file mode 100644 index 000000000..49e47f2a9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_10_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "ovarian_dysgenesis_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012569", + "label": "Delayed menarche" + } + }, + { + "type": { + "id": "HP:0000786", + "label": "Primary amenorrhea" + } + }, + { + "type": { + "id": "HP:0033799", + "label": "Abnormal circulating sex hormone concentration" + } + }, + { + "type": { + "id": "HP:0011969", + "label": "Elevated circulating luteinizing hormone level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619834", + "label": "Ovarian dysgenesis 10" + } + } + ], + "metaData": { + "created": "2024-06-11T23:24:38.208805Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_1_patient_1.json new file mode 100644 index 000000000..86a7b59c5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_1_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "ovarian_dysgenesis_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000939", + "label": "Osteoporosis" + } + }, + { + "type": { + "id": "HP:0012243", + "label": "Abnormal reproductive system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:233300", + "label": "Ovarian dysgenesis 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:46:04.238624Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_2_patient_1.json new file mode 100644 index 000000000..a6f38bc65 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_2_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "ovarian_dysgenesis_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000013", + "label": "Hypoplasia of the uterus" + } + }, + { + "type": { + "id": "HP:0031065", + "label": "Abnormal ovarian morphology" + } + }, + { + "type": { + "id": "HP:0000786", + "label": "Primary amenorrhea" + } + }, + { + "type": { + "id": "HP:0008373", + "label": "Puberty and gonadal disorders" + } + }, + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300510", + "label": "Ovarian dysgenesis 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:37:58.900844Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_3_patient_1.json new file mode 100644 index 000000000..1be908b2e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_3_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "ovarian_dysgenesis_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010463", + "label": "Aplasia of the ovary" + } + }, + { + "type": { + "id": "HP:0003117", + "label": "Abnormal circulating hormone concentration" + } + }, + { + "type": { + "id": "HP:0008232", + "label": "Elevated circulating follicle stimulating hormone level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614324", + "label": "Ovarian dysgenesis 3" + } + } + ], + "metaData": { + "created": "2024-06-12T00:30:15.650863Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_4_patient_1.json new file mode 100644 index 000000000..3d80c71c2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_4_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "ovarian_dysgenesis_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000786", + "label": "Primary amenorrhea" + } + }, + { + "type": { + "id": "HP:0008232", + "label": "Elevated circulating follicle stimulating hormone level" + } + }, + { + "type": { + "id": "HP:0008214", + "label": "Decreased serum estradiol" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616185", + "label": "Ovarian dysgenesis 4" + } + } + ], + "metaData": { + "created": "2024-06-11T21:38:13.019710Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_5_patient_1.json new file mode 100644 index 000000000..d4248cb6f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_5_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "ovarian_dysgenesis_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000786", + "label": "Primary amenorrhea" + } + }, + { + "type": { + "id": "HP:0002750", + "label": "Delayed skeletal maturation" + } + }, + { + "type": { + "id": "HP:0011969", + "label": "Elevated circulating luteinizing hormone level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617690", + "label": "Ovarian dysgenesis 5" + } + } + ], + "metaData": { + "created": "2024-06-11T20:44:02.260586Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_6_patient_1.json new file mode 100644 index 000000000..87badaa36 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_6_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "ovarian_dysgenesis_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000013", + "label": "Hypoplasia of the uterus" + } + }, + { + "type": { + "id": "HP:0000815", + "label": "Hypergonadotropic hypogonadism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618078", + "label": "Ovarian dysgenesis 6" + } + } + ], + "metaData": { + "created": "2024-06-11T23:54:33.405361Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_7_patient_1.json new file mode 100644 index 000000000..0c7481dbd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_7_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "ovarian_dysgenesis_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011969", + "label": "Elevated circulating luteinizing hormone level" + } + }, + { + "type": { + "id": "HP:0008214", + "label": "Decreased serum estradiol" + } + }, + { + "type": { + "id": "HP:0008232", + "label": "Elevated circulating follicle stimulating hormone level" + } + }, + { + "type": { + "id": "HP:0003799", + "label": "Marked delay in bone age" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618117", + "label": "Ovarian dysgenesis 7" + } + } + ], + "metaData": { + "created": "2024-06-11T17:58:19.941031Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_8_patient_1.json new file mode 100644 index 000000000..60f4ca459 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_8_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "ovarian_dysgenesis_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011969", + "label": "Elevated circulating luteinizing hormone level" + } + }, + { + "type": { + "id": "HP:0008214", + "label": "Decreased serum estradiol" + } + }, + { + "type": { + "id": "HP:0012243", + "label": "Abnormal reproductive system morphology" + } + }, + { + "type": { + "id": "HP:0031103", + "label": "Decreased cirrculating antimullerian hormone circulation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618187", + "label": "Ovarian dysgenesis 8" + } + } + ], + "metaData": { + "created": "2024-06-11T22:29:47.057576Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_9_patient_1.json new file mode 100644 index 000000000..6adcebdda --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_dysgenesis_9_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "ovarian_dysgenesis_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008232", + "label": "Elevated circulating follicle stimulating hormone level" + } + }, + { + "type": { + "id": "HP:0008724", + "label": "Hypoplasia of the ovary" + } + }, + { + "type": { + "id": "HP:0011969", + "label": "Elevated circulating luteinizing hormone level" + } + }, + { + "type": { + "id": "HP:0008214", + "label": "Decreased serum estradiol" + } + }, + { + "type": { + "id": "HP:0000141", + "label": "Amenorrhea" + } + }, + { + "type": { + "id": "HP:0030012", + "label": "Abnormal female reproductive system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619665", + "label": "Ovarian dysgenesis 9" + } + } + ], + "metaData": { + "created": "2024-06-11T21:30:01.188233Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_fibromata_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_fibromata_patient_1.json new file mode 100644 index 000000000..a15870006 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_fibromata_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ovarian_fibromata", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010618", + "label": "Ovarian fibroma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:166970", + "label": "Ovarian fibromata" + } + } + ], + "metaData": { + "created": "2024-06-11T21:01:26.015897Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_hyperstimulation_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_hyperstimulation_syndrome_patient_1.json new file mode 100644 index 000000000..4a12cca01 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ovarian_hyperstimulation_syndrome_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "ovarian_hyperstimulation_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040414", + "label": "Gelatinous ascites" + } + }, + { + "type": { + "id": "HP:0000119", + "label": "Abnormality of the genitourinary system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608115", + "label": "Ovarian hyperstimulation syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:38:35.009540Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Overhydrated_hereditary_stomatocytosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Overhydrated_hereditary_stomatocytosis_patient_1.json new file mode 100644 index 000000000..122c0896a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Overhydrated_hereditary_stomatocytosis_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "overhydrated_hereditary_stomatocytosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001923", + "label": "Reticulocytosis" + } + }, + { + "type": { + "id": "HP:0001878", + "label": "Hemolytic anemia" + } + }, + { + "type": { + "id": "HP:0005502", + "label": "Increased red cell osmotic fragility" + } + }, + { + "type": { + "id": "HP:0005518", + "label": "Increased mean corpuscular volume" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:185000", + "label": "Overhydrated hereditary stomatocytosis" + } + } + ], + "metaData": { + "created": "2024-06-11T21:57:58.901885Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Oxoglutarate_dehydrogenase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oxoglutarate_dehydrogenase_deficiency_patient_1.json new file mode 100644 index 000000000..3ee5aff82 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Oxoglutarate_dehydrogenase_deficiency_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "oxoglutarate_dehydrogenase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + } + }, + { + "type": { + "id": "HP:0002063", + "label": "Rigidity" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0002317", + "label": "Unsteady gait" + } + }, + { + "type": { + "id": "HP:0002069", + "label": "Bilateral tonic-clonic seizure" + } + }, + { + "type": { + "id": "HP:0004373", + "label": "Focal dystonia" + } + }, + { + "type": { + "id": "HP:0011997", + "label": "Postprandial hyperlactemia" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:203740", + "label": "Oxoglutarate dehydrogenase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T21:14:25.847492Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/PENTOSURIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/PENTOSURIA_patient_1.json new file mode 100644 index 000000000..70d049c89 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/PENTOSURIA_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pentosuria", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003110", + "label": "Abnormality of urine homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:260800", + "label": "PENTOSURIA" + } + } + ], + "metaData": { + "created": "2024-06-11T22:10:10.074351Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/PERCHING_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/PERCHING_syndrome_patient_1.json new file mode 100644 index 000000000..d37269cd6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/PERCHING_syndrome_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "perching_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0002098", + "label": "Respiratory distress" + } + }, + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + }, + { + "type": { + "id": "HP:0012385", + "label": "Camptodactyly" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0001945", + "label": "Fever" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0000309", + "label": "Abnormal midface morphology" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617055", + "label": "PERCHING syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:46:08.641948Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/PERSISTENT_POLYCLONAL_B_CELL_LYMPHOCYTOSIS_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/PERSISTENT_POLYCLONAL_B_CELL_LYMPHOCYTOSIS_patient_1.json new file mode 100644 index 000000000..ca1dbcef2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/PERSISTENT_POLYCLONAL_B_CELL_LYMPHOCYTOSIS_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "persistent_polyclonal_b-cell_lymphocytosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001881", + "label": "Abnormal leukocyte morphology" + } + }, + { + "type": { + "id": "HP:0025408", + "label": "Abnormal spleen morphology" + } + }, + { + "type": { + "id": "HP:0030885", + "label": "Recurrent parasitic infections" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606445", + "label": "PERSISTENT POLYCLONAL B-CELL LYMPHOCYTOSIS" + } + } + ], + "metaData": { + "created": "2024-06-11T23:21:10.493683Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/PHACE_association_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/PHACE_association_patient_1.json new file mode 100644 index 000000000..69289470d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/PHACE_association_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "phace_association", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007986", + "label": "Increased retinal vascularity" + } + }, + { + "type": { + "id": "HP:0007434", + "label": "Plaque-like facial hemangioma" + } + }, + { + "type": { + "id": "HP:0002277", + "label": "Horner syndrome" + } + }, + { + "type": { + "id": "HP:0100545", + "label": "Arterial stenosis" + } + }, + { + "type": { + "id": "HP:0000609", + "label": "Optic nerve hypoplasia" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0002617", + "label": "Vascular dilatation" + } + }, + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + }, + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0005314", + "label": "Anomalous branches of internal carotid artery" + } + }, + { + "type": { + "id": "HP:0100029", + "label": "Lingual thyroid" + } + }, + { + "type": { + "id": "HP:0001643", + "label": "Patent ductus arteriosus" + } + }, + { + "type": { + "id": "HP:0007486", + "label": "Cavernous hemangioma of the face" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606519", + "label": "PHACE association" + } + } + ], + "metaData": { + "created": "2024-06-11T23:28:28.190961Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/PHEOCHROMOCYTOMA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/PHEOCHROMOCYTOMA_patient_1.json new file mode 100644 index 000000000..84e7a4cbd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/PHEOCHROMOCYTOMA_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "pheochromocytoma", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001920", + "label": "Renal artery stenosis" + } + }, + { + "type": { + "id": "HP:0001635", + "label": "Congestive heart failure" + } + }, + { + "type": { + "id": "HP:0004308", + "label": "Ventricular arrhythmia" + } + }, + { + "type": { + "id": "HP:0001095", + "label": "Hypertensive retinopathy" + } + }, + { + "type": { + "id": "HP:0011355", + "label": "Localized skin lesion" + } + }, + { + "type": { + "id": "HP:0007550", + "label": "Hypohidrosis or hyperhidrosis" + } + }, + { + "type": { + "id": "HP:0011976", + "label": "Elevated urinary catecholamine level" + } + }, + { + "type": { + "id": "HP:0100742", + "label": "Vascular neoplasm" + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:171300", + "label": "PHEOCHROMOCYTOMA" + } + } + ], + "metaData": { + "created": "2024-06-11T19:11:11.433463Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/PYGMY_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/PYGMY_patient_1.json new file mode 100644 index 000000000..3aa7a7fb7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/PYGMY_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "pygmy", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000818", + "label": "Abnormality of the endocrine system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:265850", + "label": "PYGMY" + } + } + ], + "metaData": { + "created": "2024-06-12T01:59:38.919518Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/PYKNOACHONDROGENESIS_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/PYKNOACHONDROGENESIS_patient_1.json new file mode 100644 index 000000000..6a442e867 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/PYKNOACHONDROGENESIS_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "pyknoachondrogenesis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011001", + "label": "Increased bone mineral density" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:265880", + "label": "PYKNOACHONDROGENESIS" + } + } + ], + "metaData": { + "created": "2024-06-11T23:12:48.010686Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pa_polymorphism_of_alpha_2_globulin_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pa_polymorphism_of_alpha_2_globulin_patient_1.json new file mode 100644 index 000000000..b84671235 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pa_polymorphism_of_alpha_2_globulin_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pa_polymorphism_of_alpha-2-globulin", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010701", + "label": "Abnormal immunoglobulin level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:260100", + "label": "Pa polymorphism of alpha-2-globulin" + } + } + ], + "metaData": { + "created": "2024-06-11T19:18:16.689903Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachydermodactyly_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachydermodactyly_familial_patient_1.json new file mode 100644 index 000000000..57a97c8a3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachydermodactyly_familial_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pachydermodactyly,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000924", + "label": "Abnormality of the skeletal system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600356", + "label": "Pachydermodactyly, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T23:26:25.030565Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachygyria_frontotemporal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachygyria_frontotemporal_patient_1.json new file mode 100644 index 000000000..7169ce66c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachygyria_frontotemporal_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "pachygyria,_frontotemporal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0031763", + "label": "Cyclic esotropia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610279", + "label": "Pachygyria, frontotemporal" + } + } + ], + "metaData": { + "created": "2024-06-11T21:37:06.747782Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachygyria_microcephaly_developmental_delay_and_dysmorphic_facies_with_or_without_seizures_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachygyria_microcephaly_developmental_delay_and_dysmorphic_facies_with_or_without_seizures_patient_1.json new file mode 100644 index 000000000..dcfe36428 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachygyria_microcephaly_developmental_delay_and_dysmorphic_facies_with_or_without_seizures_patient_1.json @@ -0,0 +1,128 @@ +{ + "id": "pachygyria,_microcephaly,_developmental_delay,_and_dysmorphic_facies,_with_or_without_seizures", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000253", + "label": "Progressive microcephaly" + } + }, + { + "type": { + "id": "HP:0000341", + "label": "Narrow forehead" + } + }, + { + "type": { + "id": "HP:0200006", + "label": "Slanting of the palpebral fissure" + } + }, + { + "type": { + "id": "HP:0020188", + "label": "Anterior predominant pachygyria with 5-10 mm cortical thickness" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0002416", + "label": "Subependymal cysts" + } + }, + { + "type": { + "id": "HP:0100704", + "label": "Cerebral visual impairment" + } + }, + { + "type": { + "id": "HP:0011198", + "label": "EEG with generalized epileptiform discharges" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0000326", + "label": "Abnormal maxilla morphology" + } + }, + { + "type": { + "id": "HP:0003808", + "label": "Abnormal muscle tone" + } + }, + { + "type": { + "id": "HP:0000319", + "label": "Smooth philtrum" + } + }, + { + "type": { + "id": "HP:0002977", + "label": "Aplasia/Hypoplasia involving the central nervous system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618737", + "label": "Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures" + } + } + ], + "metaData": { + "created": "2024-06-11T23:30:16.877103Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachygyria_with_mental_retardation_seizures_and_arachnoid_cysts_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachygyria_with_mental_retardation_seizures_and_arachnoid_cysts_patient_1.json new file mode 100644 index 000000000..10b87dc6a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachygyria_with_mental_retardation_seizures_and_arachnoid_cysts_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "pachygyria_with_mental_retardation,_seizures,_and_arachnoid_cysts", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001302", + "label": "Pachygyria" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0007270", + "label": "Atypical absence seizure" + } + }, + { + "type": { + "id": "HP:0000924", + "label": "Abnormality of the skeletal system" + } + }, + { + "type": { + "id": "HP:0009745", + "label": "Spinal arachnoid cyst" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600176", + "label": "Pachygyria with mental retardation, seizures, and arachnoid cysts" + } + } + ], + "metaData": { + "created": "2024-06-11T18:08:40.729534Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachyonychia_congenita_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachyonychia_congenita_2_patient_1.json new file mode 100644 index 000000000..8eb4035c9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachyonychia_congenita_2_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "pachyonychia_congenita_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002164", + "label": "Nail dysplasia" + } + }, + { + "type": { + "id": "HP:0002209", + "label": "Sparse scalp hair" + } + }, + { + "type": { + "id": "HP:0011359", + "label": "Dry hair" + } + }, + { + "type": { + "id": "HP:0001615", + "label": "Hoarse cry" + } + }, + { + "type": { + "id": "HP:0030318", + "label": "Angular cheilitis" + } + }, + { + "type": { + "id": "HP:0000982", + "label": "Palmoplantar keratoderma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:167210", + "label": "Pachyonychia congenita 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:11:59.063220Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachyonychia_congenita_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachyonychia_congenita_3_patient_1.json new file mode 100644 index 000000000..f15371b71 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachyonychia_congenita_3_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "pachyonychia_congenita_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000975", + "label": "Hyperhidrosis" + } + }, + { + "type": { + "id": "HP:0040181", + "label": "Chapped lip" + } + }, + { + "type": { + "id": "HP:0002745", + "label": "Oral leukoplakia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615726", + "label": "Pachyonychia congenita 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:41:36.496581Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachyonychia_congenita_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachyonychia_congenita_4_patient_1.json new file mode 100644 index 000000000..154963c25 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachyonychia_congenita_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pachyonychia_congenita_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000982", + "label": "Palmoplantar keratoderma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615728", + "label": "Pachyonychia congenita 4" + } + } + ], + "metaData": { + "created": "2024-06-11T21:55:16.855915Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachyonychia_congenita_type_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachyonychia_congenita_type_1_patient_1.json new file mode 100644 index 000000000..69ec08886 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pachyonychia_congenita_type_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pachyonychia_congenita,_type_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002745", + "label": "Oral leukoplakia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:167200", + "label": "Pachyonychia congenita, type 1" + } + } + ], + "metaData": { + "created": "2024-06-11T17:54:59.767824Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pacman_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pacman_dysplasia_patient_1.json new file mode 100644 index 000000000..33ebfb549 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pacman_dysplasia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pacman_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005716", + "label": "Lethal skeletal dysplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:167220", + "label": "Pacman dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T22:54:36.096875Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Paganini_Miozzo_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paganini_Miozzo_syndrome_patient_1.json new file mode 100644 index 000000000..d5e6c837e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paganini_Miozzo_syndrome_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "paganini-miozzo_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000325", + "label": "Triangular face" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0002151", + "label": "Increased circulating lactate concentration" + } + }, + { + "type": { + "id": "HP:0006956", + "label": "Lateral ventricle dilatation" + } + }, + { + "type": { + "id": "HP:0002003", + "label": "Large forehead" + } + }, + { + "type": { + "id": "HP:0002714", + "label": "Downturned corners of mouth" + } + }, + { + "type": { + "id": "HP:0003348", + "label": "Hyperalaninemia" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0002373", + "label": "Febrile seizure (within the age range of 3 months to 6 years)" + } + }, + { + "type": { + "id": "HP:0008551", + "label": "Microtia" + } + }, + { + "type": { + "id": "HP:0000272", + "label": "Malar flattening" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0000009", + "label": "Functional abnormality of the bladder" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301025", + "label": "Paganini-Miozzo syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:52:30.785062Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Paget_disease_extramammary_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paget_disease_extramammary_patient_1.json new file mode 100644 index 000000000..c806ab291 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paget_disease_extramammary_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "paget_disease,_extramammary", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000964", + "label": "Eczematoid dermatitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:167300", + "label": "Paget disease, extramammary" + } + } + ], + "metaData": { + "created": "2024-06-11T19:47:46.570320Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Paget_disease_of_bone_2_early_onset_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paget_disease_of_bone_2_early_onset_patient_1.json new file mode 100644 index 000000000..b0e13895a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paget_disease_of_bone_2_early_onset_patient_1.json @@ -0,0 +1,122 @@ +{ + "id": "paget_disease_of_bone_2,_early-onset", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006480", + "label": "Premature loss of teeth" + } + }, + { + "type": { + "id": "HP:0002315", + "label": "Headache" + } + }, + { + "type": { + "id": "HP:0003097", + "label": "Short femur" + } + }, + { + "type": { + "id": "HP:0008513", + "label": "Bilateral conductive hearing impairment" + } + }, + { + "type": { + "id": "HP:0003072", + "label": "Hypercalcemia" + } + }, + { + "type": { + "id": "HP:0002659", + "label": "Increased susceptibility to fractures" + } + }, + { + "type": { + "id": "HP:0003155", + "label": "Elevated circulating alkaline phosphatase concentration" + } + }, + { + "type": { + "id": "HP:0003084", + "label": "Fractures of the long bones" + } + }, + { + "type": { + "id": "HP:0002694", + "label": "Sclerosis of skull base" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0002797", + "label": "Osteolysis" + } + }, + { + "type": { + "id": "HP:0005096", + "label": "Distal femoral bowing" + } + }, + { + "type": { + "id": "HP:0003991", + "label": "Osteosclerosis of the ulna" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602080", + "label": "Paget disease of bone 2, early-onset" + } + } + ], + "metaData": { + "created": "2024-06-11T22:12:21.289882Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Paget_disease_of_bone_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paget_disease_of_bone_3_patient_1.json new file mode 100644 index 000000000..c3d8b07c1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paget_disease_of_bone_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "paget_disease_of_bone_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003155", + "label": "Elevated circulating alkaline phosphatase concentration" + } + }, + { + "type": { + "id": "HP:0011843", + "label": "Abnormal musculoskeletal physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:167250", + "label": "Paget disease of bone 3" + } + } + ], + "metaData": { + "created": "2024-06-11T22:01:34.126399Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Paget_disease_of_bone_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paget_disease_of_bone_4_patient_1.json new file mode 100644 index 000000000..98cf20012 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paget_disease_of_bone_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "paget_disease_of_bone_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003155", + "label": "Elevated circulating alkaline phosphatase concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606263", + "label": "Paget disease of bone 4" + } + } + ], + "metaData": { + "created": "2024-06-11T18:09:09.600469Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Paget_disease_of_bone_5_juvenile_onset_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paget_disease_of_bone_5_juvenile_onset_patient_1.json new file mode 100644 index 000000000..2685e3e19 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paget_disease_of_bone_5_juvenile_onset_patient_1.json @@ -0,0 +1,171 @@ +{ + "id": "paget_disease_of_bone_5,_juvenile-onset", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003080", + "label": "Hydroxyprolinuria" + } + }, + { + "type": { + "id": "HP:0000256", + "label": "Macrocephaly" + } + }, + { + "type": { + "id": "HP:0002808", + "label": "Kyphosis" + } + }, + { + "type": { + "id": "HP:0002150", + "label": "Hypercalciuria" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0009121", + "label": "Abnormal axial skeleton morphology" + } + }, + { + "type": { + "id": "HP:0011406", + "label": "Infancy onset short-trunk short stature" + } + }, + { + "type": { + "id": "HP:0004354", + "label": "Abnormal circulating carboxylic acid concentration" + } + }, + { + "type": { + "id": "HP:0008318", + "label": "Elevated leukocyte alkaline phosphatase" + } + }, + { + "type": { + "id": "HP:0001376", + "label": "Limitation of joint mobility" + } + }, + { + "type": { + "id": "HP:0011389", + "label": "Functional abnormality of the inner ear" + } + }, + { + "type": { + "id": "HP:0005792", + "label": "Short humerus" + } + }, + { + "type": { + "id": "HP:0002905", + "label": "Hyperphosphatemia" + } + }, + { + "type": { + "id": "HP:0003978", + "label": "Fractured radius" + } + }, + { + "type": { + "id": "HP:0000256", + "label": "Macrocephaly" + } + }, + { + "type": { + "id": "HP:0000938", + "label": "Osteopenia" + } + }, + { + "type": { + "id": "HP:0011001", + "label": "Increased bone mineral density" + } + }, + { + "type": { + "id": "HP:0005897", + "label": "Severe generalized osteoporosis" + } + }, + { + "type": { + "id": "HP:0033354", + "label": "Abnormal urine metabolite level" + } + }, + { + "type": { + "id": "HP:0000479", + "label": "Abnormal retinal morphology" + } + }, + { + "type": { + "id": "HP:0002823", + "label": "Abnormal femur morphology" + } + }, + { + "type": { + "id": "HP:0009062", + "label": "Infantile axial hypotonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:239000", + "label": "Paget disease of bone 5, juvenile-onset" + } + } + ], + "metaData": { + "created": "2024-06-11T20:19:57.875354Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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+ }, + { + "type": { + "id": "HP:0001601", + "label": "Laryngomalacia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601803", + "label": "Pallister-Killian syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:05:12.036925Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmaris_longus_muscle_absence_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmaris_longus_muscle_absence_of_patient_1.json new file mode 100644 index 000000000..66435d62c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmaris_longus_muscle_absence_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "palmaris_longus_muscle,_absence_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000924", + "label": "Abnormality of the skeletal system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:167600", + "label": "Palmaris longus muscle, absence of" + } + } + ], + "metaData": { + "created": "2024-06-11T19:17:22.119017Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_carcinoma_multiple_self_healing_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_carcinoma_multiple_self_healing_patient_1.json new file mode 100644 index 000000000..b5fd5780a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_carcinoma_multiple_self_healing_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "palmoplantar_carcinoma,_multiple_self-healing", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007502", + "label": "Follicular hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0001036", + "label": "Parakeratosis" + } + }, + { + "type": { + "id": "HP:0025092", + "label": "Epidermal acanthosis" + } + }, + { + "type": { + "id": "HP:0006739", + "label": "Squamous cell carcinoma of the skin" + } + }, + { + "type": { + "id": "HP:0041093", + "label": "Beau's lines" + } + }, + { + "type": { + "id": "HP:0012384", + "label": "Rhinitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615225", + "label": "Palmoplantar carcinoma, multiple self-healing" + } + } + ], + "metaData": { + "created": "2024-06-11T18:56:34.971050Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_hyperkeratosis_with_squamous_cell_carcinoma_of_skin_and_46_xx_sex_reversal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_hyperkeratosis_with_squamous_cell_carcinoma_of_skin_and_46_xx_sex_reversal_patient_1.json new file mode 100644 index 000000000..87a6335a5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_hyperkeratosis_with_squamous_cell_carcinoma_of_skin_and_46_xx_sex_reversal_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "palmoplantar_hyperkeratosis_with_squamous_cell_carcinoma_of_skin_and_46,xx_sex_reversal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008404", + "label": "Nail dystrophy" + } + }, + { + "type": { + "id": "HP:0000771", + "label": "Gynecomastia" + } + }, + { + "type": { + "id": "HP:0007410", + "label": "Palmoplantar hyperhidrosis" + } + }, + { + "type": { + "id": "HP:0000047", + "label": "Hypospadias" + } + }, + { + "type": { + "id": "HP:0000062", + "label": "Ambiguous genitalia" + } + }, + { + "type": { + "id": "HP:0011838", + "label": "Sclerodactyly" + } + }, + { + "type": { + "id": "HP:0006357", + "label": "Premature loss of permanent teeth" + } + }, + { + "type": { + "id": "HP:0030731", + "label": "Carcinoma" + } + }, + { + "type": { + "id": "HP:0008386", + "label": "Aplasia/Hypoplasia of the nails" + } + }, + { + "type": { + "id": "HP:0012118", + "label": "Laryngeal carcinoma" + } + }, + { + "type": { + "id": "HP:0000059", + "label": "Hypoplastic labia majora" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610644", + "label": "Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,xx sex reversal" + } + } + ], + "metaData": { + "created": "2024-06-11T21:55:45.591383Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": 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"id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007447", + "label": "Diffuse palmoplantar hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600231", + "label": "Palmoplantar keratoderma, Bothnian type" + } + } + ], + "metaData": { + "created": "2024-06-12T00:50:15.368192Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_Nagashima_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_Nagashima_type_patient_1.json new file mode 100644 index 000000000..5f080f91c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_Nagashima_type_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "palmoplantar_keratoderma,_nagashima_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007410", + "label": "Palmoplantar hyperhidrosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615598", + "label": "Palmoplantar keratoderma, Nagashima type" + } + } + ], + "metaData": { + "created": "2024-06-11T22:42:11.732344Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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"type": { + "id": "HP:0007418", + "label": "Alopecia totalis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0011276", + "label": "Vascular skin abnormality" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:212360", + "label": "Palmoplantar keratoderma and congenital alopecia 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:22:32.970745Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_and_woolly_hair_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_and_woolly_hair_patient_1.json new file mode 100644 index 000000000..0aa263285 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_and_woolly_hair_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "palmoplantar_keratoderma_and_woolly_hair", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + }, + { + "type": { + "id": "HP:0001595", + "label": "Abnormal hair morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616099", + "label": "Palmoplantar keratoderma and woolly hair" + } + } + ], + "metaData": { + "created": "2024-06-11T18:06:18.917616Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_epidermolytic_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_epidermolytic_2_patient_1.json new file mode 100644 index 000000000..0ed8ca384 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_epidermolytic_2_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "palmoplantar_keratoderma,_epidermolytic,_2", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000972", + "label": "Palmoplantar hyperkeratosis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620411", + "label": "Palmoplantar keratoderma, epidermolytic, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:51:48.227836Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", 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"id": "HP:0007508", + "label": "Punctate palmar hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:144200", + "label": "Palmoplantar keratoderma, epidermolytic" + } + } + ], + "metaData": { + "created": "2024-06-11T23:06:10.229820Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_mutilating_with_periorificial_keratotic_plaques_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_mutilating_with_periorificial_keratotic_plaques_X_linked_patient_1.json new file mode 100644 index 000000000..c6b61e358 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_mutilating_with_periorificial_keratotic_plaques_X_linked_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "palmoplantar_keratoderma,_mutilating,_with_periorificial_keratotic_plaques,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007418", + "label": "Alopecia totalis" + } + }, + { + "type": { + "id": "HP:0000962", + "label": "Hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0008392", + "label": "Subungual hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300918", + "label": "Palmoplantar keratoderma, mutilating, with periorificial keratotic plaques, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T21:58:24.579043Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_nonepidermolytic_focal_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_nonepidermolytic_focal_1_patient_1.json new file mode 100644 index 000000000..f03fc3c44 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_nonepidermolytic_focal_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "palmoplantar_keratoderma,_nonepidermolytic,_focal_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032152", + "label": "Keratosis pilaris" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613000", + "label": "Palmoplantar keratoderma, nonepidermolytic, focal 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:16:45.321413Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_nonepidermolytic_focal_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_nonepidermolytic_focal_2_patient_1.json new file mode 100644 index 000000000..9ff15b0ad --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_nonepidermolytic_focal_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "palmoplantar_keratoderma,_nonepidermolytic,_focal_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005588", + "label": "Patchy palmoplantar hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616400", + "label": "Palmoplantar keratoderma, nonepidermolytic, focal 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:29:15.234223Z", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_nonepidermolytic_focal_or_diffuse_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "palmoplantar_keratoderma,_nonepidermolytic,_focal_or_diffuse", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0100871", + "label": "Abnormal palm morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615735", + "label": "Palmoplantar keratoderma, nonepidermolytic, focal or diffuse" + } + } + ], + "metaData": { + "created": "2024-06-11T20:18:14.629541Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_nonepidermolytic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_nonepidermolytic_patient_1.json new file mode 100644 index 000000000..03ebe5d5f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_nonepidermolytic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "palmoplantar_keratoderma,_nonepidermolytic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007404", + "label": "Nonepidermolytic palmoplantar hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600962", + "label": "Palmoplantar keratoderma, nonepidermolytic" + } + } + ], + "metaData": { + "created": "2024-06-11T22:53:52.709453Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_punctate_type_IA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_punctate_type_IA_patient_1.json new file mode 100644 index 000000000..b5e6ec7fe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_punctate_type_IA_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "palmoplantar_keratoderma,_punctate_type_ia", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P6Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0007530", + "label": "Punctate palmoplantar hyperkeratosis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:148600", + "label": "Palmoplantar keratoderma, punctate type IA" + } + } + ], + "metaData": { + "created": "2024-06-12T00:30:19.143370Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_with_congenital_alopecia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_with_congenital_alopecia_patient_1.json new file mode 100644 index 000000000..4f5016336 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Palmoplantar_keratoderma_with_congenital_alopecia_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "palmoplantar_keratoderma_with_congenital_alopecia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0025493", + "label": "Palmoplantar erythema" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + }, + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + }, + { + "type": { + "id": "HP:0000953", + "label": "Hyperpigmentation of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:104100", + "label": "Palmoplantar keratoderma with congenital alopecia" + } + } + ], + "metaData": { + "created": "2024-06-11T19:44:41.669921Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Panbronchiolitis_diffuse_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Panbronchiolitis_diffuse_patient_1.json new file mode 100644 index 000000000..719793074 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Panbronchiolitis_diffuse_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "panbronchiolitis,_diffuse", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0030829", + "label": "Abnormal breath sound" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604809", + "label": "Panbronchiolitis, diffuse" + } + } + ], + "metaData": { + "created": "2024-06-11T20:58:02.013304Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreas_annular_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreas_annular_patient_1.json new file mode 100644 index 000000000..ec433ab3c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreas_annular_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pancreas,_annular", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100867", + "label": "Duodenal stenosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:167750", + "label": "Pancreas, annular" + } + } + ], + "metaData": { + "created": "2024-06-11T22:58:38.424431Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_agenesis_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_agenesis_2_patient_1.json new file mode 100644 index 000000000..9d194ca8e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_agenesis_2_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "pancreatic_agenesis_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012090", + "label": "Abnormal pancreas morphology" + } + }, + { + "type": { + "id": "HP:0009800", + "label": "Maternal diabetes" + } + }, + { + "type": { + "id": "HP:0001738", + "label": "Exocrine pancreatic insufficiency" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615935", + "label": "Pancreatic agenesis 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:06:53.297336Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_agenesis_and_congenital_heart_defects_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_agenesis_and_congenital_heart_defects_patient_1.json new file mode 100644 index 000000000..8ba64df48 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_agenesis_and_congenital_heart_defects_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "pancreatic_agenesis_and_congenital_heart_defects", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001660", + "label": "Truncus arteriosus" + } + }, + { + "type": { + "id": "HP:0004415", + "label": "Pulmonary artery stenosis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0001655", + "label": "Patent foramen ovale" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0001643", + "label": "Patent ductus arteriosus" + } + }, + { + "type": { + "id": "HP:0001643", + "label": "Patent ductus arteriosus" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000819", + "label": "Diabetes mellitus" + } + }, + { + "type": { + "id": "HP:0003076", + "label": "Glycosuria" + } + }, + { + "type": { + "id": "HP:0000891", + "label": "Cervical ribs" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0001507", + "label": "Growth abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600001", + "label": "Pancreatic agenesis and congenital heart defects" + } + } + ], + "metaData": { + "created": "2024-06-11T18:21:58.125814Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_agenesis_congenital_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_agenesis_congenital_patient_1.json new file mode 100644 index 000000000..a930d0df5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_agenesis_congenital_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "pancreatic_agenesis,_congenital", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001562", + "label": "Oligohydramnios" + } + }, + { + "type": { + "id": "HP:0008255", + "label": "Transient neonatal diabetes mellitus" + } + }, + { + "type": { + "id": "HP:0001738", + "label": "Exocrine pancreatic insufficiency" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + }, + { + "type": { + "id": "HP:0100801", + "label": "Pancreatic aplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:260370", + "label": "Pancreatic agenesis, congenital" + } + } + ], + "metaData": { + "created": "2024-06-11T19:46:00.266073Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_and_cerebellar_agenesis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_and_cerebellar_agenesis_patient_1.json new file mode 100644 index 000000000..f8b4c6173 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_and_cerebellar_agenesis_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "pancreatic_and_cerebellar_agenesis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000768", + "label": "Pectus carinatum" + } + }, + { + "type": { + "id": "HP:0001943", + "label": "Hypoglycemia" + } + }, + { + "type": { + "id": "HP:0002594", + "label": "Pancreatic hypoplasia" + } + }, + { + "type": { + "id": "HP:0008846", + "label": "Severe intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0100801", + "label": "Pancreatic aplasia" + } + }, + { + "type": { + "id": "HP:0010557", + "label": "Overlapping fingers" + } + }, + { + "type": { + "id": "HP:0003758", + "label": "Reduced subcutaneous adipose tissue" + } + }, + { + "type": { + "id": "HP:0001265", + "label": "Hyporeflexia" + } + }, + { + "type": { + "id": "HP:0000331", + "label": "Short chin" + } + }, + { + "type": { + "id": "HP:0000444", + "label": "Convex nasal ridge" + } + }, + { + "type": { + "id": "HP:0002335", + "label": "Agenesis of cerebellar vermis" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0011998", + "label": "Postprandial hyperglycemia" + } + }, + { + "type": { + "id": "HP:0004631", + "label": "Decreased cervical spine flexion due to contractures of posterior cervical muscles" + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + }, + { + "type": { + "id": "HP:0012642", + "label": "Cerebellar agenesis" + } + }, + { + "type": { + "id": "HP:0005510", + "label": "Transient erythroblastopenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609069", + "label": "Pancreatic and cerebellar agenesis" + } + } + ], + "metaData": { + "created": "2024-06-11T20:49:12.289389Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus_patient_1.json new file mode 100644 index 000000000..1a004edb1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pancreatic_beta_cell_agenesis_with_neonatal_diabetes_mellitus", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001438", + "label": "Abnormal abdomen morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600089", + "label": "Pancreatic beta cell agenesis with neonatal diabetes mellitus" + } + } + ], + "metaData": { + "created": "2024-06-11T20:00:38.682083Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_cancer_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_cancer_patient_1.json new file mode 100644 index 000000000..5f2f3f417 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_cancer_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pancreatic_cancer", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0410067", + "label": "Increased level of L-fucose in urine" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:260350", + "label": "Pancreatic cancer" + } + } + ], + "metaData": { + "created": "2024-06-11T21:02:36.108380Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_cancer_susceptibility_to_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_cancer_susceptibility_to_1_patient_1.json new file mode 100644 index 000000000..02e5d2ef5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_cancer_susceptibility_to_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pancreatic_cancer,_susceptibility_to,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006725", + "label": "Pancreatic adenocarcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606856", + "label": "Pancreatic cancer, susceptibility to, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T17:59:04.806967Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_cancer_susceptibility_to_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_cancer_susceptibility_to_2_patient_1.json new file mode 100644 index 000000000..b7d31b177 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_cancer_susceptibility_to_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pancreatic_cancer,_susceptibility_to,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002894", + "label": "Neoplasm of the pancreas" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613347", + "label": "Pancreatic cancer, susceptibility to, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:42:44.549186Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_cancer_susceptibility_to_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_cancer_susceptibility_to_5_patient_1.json new file mode 100644 index 000000000..4cdfc28b4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_cancer_susceptibility_to_5_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "pancreatic_cancer,_susceptibility_to,_5", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P50Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006725", + "label": "Pancreatic adenocarcinoma" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003596", + "label": "Middle age onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618680", + "label": "Pancreatic cancer, susceptibility to, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T23:40:26.218954Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_insufficiency_combined_exocrine_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_insufficiency_combined_exocrine_patient_1.json new file mode 100644 index 000000000..9b0251d98 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_insufficiency_combined_exocrine_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "pancreatic_insufficiency,_combined_exocrine", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012050", + "label": "Anasarca" + } + }, + { + "type": { + "id": "HP:0001738", + "label": "Exocrine pancreatic insufficiency" + } + }, + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:260450", + "label": "Pancreatic insufficiency, combined exocrine" + } + } + ], + "metaData": { + "created": "2024-06-11T23:56:32.896876Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_lipase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_lipase_deficiency_patient_1.json new file mode 100644 index 000000000..6b9ba2b77 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatic_lipase_deficiency_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "pancreatic_lipase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002570", + "label": "Steatorrhea" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614338", + "label": "Pancreatic lipase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T19:19:33.737245Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatitis_hereditary_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatitis_hereditary_patient_1.json new file mode 100644 index 000000000..258c1a633 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pancreatitis_hereditary_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "pancreatitis,_hereditary", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002027", + "label": "Abdominal pain" + } + }, + { + "type": { + "id": "HP:0005213", + "label": "Pancreatic calcification" + } + }, + { + "type": { + "id": "HP:0001945", + "label": "Fever" + } + }, + { + "type": { + "id": "HP:0001738", + "label": "Exocrine pancreatic insufficiency" + } + }, + { + "type": { + "id": "HP:0001977", + "label": "Abnormal thrombosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:167800", + "label": "Pancreatitis, hereditary" + } + } + ], + "metaData": { + "created": "2024-06-11T23:25:52.618362Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Panencephalitis_subacute_sclerosing_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Panencephalitis_subacute_sclerosing_patient_1.json new file mode 100644 index 000000000..6da84bab0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Panencephalitis_subacute_sclerosing_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "panencephalitis,_subacute_sclerosing", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002383", + "label": "Infectious encephalitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:260470", + "label": "Panencephalitis, subacute sclerosing" + } + } + ], + "metaData": { + "created": "2024-06-11T19:21:30.574855Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Panhypopituitarism_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Panhypopituitarism_X_linked_patient_1.json new file mode 100644 index 000000000..b623c2eec --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Panhypopituitarism_X_linked_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "panhypopituitarism,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000839", + "label": "Pituitary dwarfism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:312000", + "label": "Panhypopituitarism, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T22:42:48.516286Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Panic_disorder_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Panic_disorder_1_patient_1.json new file mode 100644 index 000000000..f285f4541 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Panic_disorder_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "panic_disorder_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000739", + "label": "Anxiety" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:167870", + "label": "Panic disorder 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:20:37.680128Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Papilloma_of_choroid_plexus_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Papilloma_of_choroid_plexus_patient_1.json new file mode 100644 index 000000000..67426c867 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Papilloma_of_choroid_plexus_patient_1.json @@ -0,0 +1,86 @@ +{ + "id": "papilloma_of_choroid_plexus", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P30Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200022", + "label": "Choroid plexus papilloma" + }, + "onset": { + "ontologyClass": { + "id": "HP:0025710", + "label": "Late young adult onset" + } + } + }, + { + "type": { + "id": "HP:0002669", + "label": "Osteosarcoma" + }, + "onset": { + "ontologyClass": { + "id": "HP:0025709", + "label": "Intermediate young adult onset" + } + } + }, + { + "type": { + "id": "HP:0001085", + "label": "Papilledema" + } + }, + { + "type": { + "id": "HP:0002343", + "label": "Normal pressure hydrocephalus" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:260500", + "label": "Papilloma of choroid plexus" + } + } + ], + "metaData": { + "created": "2024-06-11T17:53:04.759639Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Papillomatosis_familial_cutaneous_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Papillomatosis_familial_cutaneous_patient_1.json new file mode 100644 index 000000000..c11788e61 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Papillomatosis_familial_cutaneous_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "papillomatosis,_familial_cutaneous", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000962", + "label": "Hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:167900", + "label": "Papillomatosis, familial cutaneous" + } + } + ], + "metaData": { + "created": "2024-06-11T21:18:14.302766Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Papillomatosis_florid_of_nipple_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Papillomatosis_florid_of_nipple_patient_1.json new file mode 100644 index 000000000..16af05fc1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Papillomatosis_florid_of_nipple_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "papillomatosis,_florid,_of_nipple", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000951", + "label": "Abnormality of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:167950", + "label": "Papillomatosis, florid, of nipple" + } + } + ], + "metaData": { + "created": "2024-06-11T18:49:29.882662Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Papillon_Lefevre_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Papillon_Lefevre_syndrome_patient_1.json new file mode 100644 index 000000000..6c8bf2630 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Papillon_Lefevre_syndrome_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "papillon-lefevre_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006308", + "label": "Atrophy of alveolar ridges" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:245000", + "label": "Papillon-Lefevre syndrome" + } + } + ], + "metaData": { + "created": "2024-06-12T01:41:46.899920Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Papillorenal_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Papillorenal_syndrome_patient_1.json new file mode 100644 index 000000000..1223961ec --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Papillorenal_syndrome_patient_1.json @@ -0,0 +1,207 @@ +{ + "id": "papillorenal_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030854", + "label": "Scleral staphyloma" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0012622", + "label": "Chronic kidney disease" + } + }, + { + "type": { + "id": "HP:0000977", + "label": "Soft skin" + } + }, + { + "type": { + "id": "HP:0000089", + "label": "Renal hypoplasia" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0012595", + "label": "Mild proteinuria" + } + }, + { + "type": { + "id": "HP:0032285", + "label": "Ultra-low vision with retained light projection" + } + }, + { + "type": { + "id": "HP:0012027", + "label": "Laryngeal edema" + } + }, + { + "type": { + "id": "HP:0011509", + "label": "Macular hyperpigmentation" + } + }, + { + "type": { + "id": "HP:0025514", + "label": "Morning glory anomaly" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0012211", + "label": "Abnormal renal physiology" + } + }, + { + "type": { + "id": "HP:0003259", + "label": "Elevated circulating creatinine concentration" + } + }, + { + "type": { + "id": "HP:0033738", + "label": "Primary vesicoureteral reflux" + } + }, + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0007099", + "label": "Chiari type I malformation" + } + }, + { + "type": { + "id": "HP:0031726", + "label": "Incyclotropia" + } + }, + { + "type": { + "id": "HP:0011003", + "label": "High myopia" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0000085", + "label": "Horseshoe kidney" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + }, + { + "type": { + "id": "HP:0033354", + "label": "Abnormal urine metabolite level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:120330", + "label": "Papillorenal syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:06:58.492865Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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+ } + }, + { + "type": { + "id": "HP:0002886", + "label": "Vagal paraganglioma" + } + }, + { + "type": { + "id": "HP:0006737", + "label": "Extraadrenal pheochromocytoma" + } + }, + { + "type": { + "id": "HP:0001609", + "label": "Hoarse voice" + } + }, + { + "type": { + "id": "HP:0000740", + "label": "Episodic paroxysmal anxiety" + } + }, + { + "type": { + "id": "HP:0100635", + "label": "Carotid paraganglioma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:168000", + "label": "Paragangliomas 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:19:04.318353Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Paragangliomas_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paragangliomas_2_patient_1.json new file mode 100644 index 000000000..110be2fb8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paragangliomas_2_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "paragangliomas_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003001", + "label": "Glomus jugular tumor" + } + }, + { + "type": { + "id": "HP:0006715", + "label": "Glomus tympanicum paraganglioma" + } + }, + { + "type": { + "id": "HP:0012246", + "label": "Oculomotor nerve palsy" + } + }, + { + "type": { + "id": "HP:0002886", + "label": "Vagal paraganglioma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601650", + "label": "Paragangliomas 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:00:29.017628Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Paragangliomas_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paragangliomas_3_patient_1.json new file mode 100644 index 000000000..4c6cbdf74 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paragangliomas_3_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "paragangliomas_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006824", + "label": "Cranial nerve paralysis" + } + }, + { + "type": { + "id": "HP:0002640", + "label": "Hypertension associated with pheochromocytoma" + } + }, + { + "type": { + "id": "HP:0001962", + "label": "Palpitations" + } + }, + { + "type": { + "id": "HP:0003001", + "label": "Glomus jugular tumor" + } + }, + { + "type": { + "id": "HP:0002331", + "label": "Recurrent paroxysmal headache" + } + }, + { + "type": { + "id": "HP:0002664", + "label": "Neoplasm" + } + }, + { + "type": { + "id": "HP:0001615", + "label": "Hoarse cry" + } + }, + { + "type": { + "id": "HP:0100636", + "label": "Pulmonary paraglioma" + } + }, + { + "type": { + "id": "HP:0008629", + "label": "Pulsatile tinnitus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605373", + "label": "Paragangliomas 3" + } + } + ], + "metaData": { + "created": "2024-06-11T23:12:52.339982Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Paragangliomas_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paragangliomas_4_patient_1.json new file mode 100644 index 000000000..096a20464 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paragangliomas_4_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "paragangliomas_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007378", + "label": "Neoplasm of the gastrointestinal tract" + } + }, + { + "type": { + "id": "HP:0006742", + "label": "Congenital neuroblastoma" + } + }, + { + "type": { + "id": "HP:0000759", + "label": "Abnormal peripheral nervous system morphology" + } + }, + { + "type": { + "id": "HP:0002666", + "label": "Pheochromocytoma" + } + }, + { + "type": { + "id": "HP:0006737", + "label": "Extraadrenal pheochromocytoma" + } + }, + { + "type": { + "id": "HP:0000740", + "label": "Episodic paroxysmal anxiety" + } + }, + { + "type": { + "id": "HP:0004308", + "label": "Ventricular arrhythmia" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0001962", + "label": "Palpitations" + } + }, + { + "type": { + "id": "HP:0009726", + "label": "Renal neoplasm" + } + }, + { + "type": { + "id": "HP:0007550", + "label": "Hypohidrosis or hyperhidrosis" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:115310", + "label": "Paragangliomas 4" + } + } + ], + "metaData": { + "created": "2024-06-11T22:47:42.344044Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Paragangliomas_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paragangliomas_5_patient_1.json new file mode 100644 index 000000000..05c530c16 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paragangliomas_5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "paragangliomas_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002668", + "label": "Paraganglioma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614165", + "label": "Paragangliomas 5" + } + } + ], + "metaData": { + "created": "2024-06-11T21:01:36.336327Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Paragangliomas_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paragangliomas_6_patient_1.json new file mode 100644 index 000000000..40311f82b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paragangliomas_6_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "paragangliomas_6", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P46Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003334", + "label": "Elevated circulating catecholamine level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618464", + "label": "Paragangliomas 6" + } + } + ], + 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"paragangliomas_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002668", + "label": "Paraganglioma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618475", + "label": "Paragangliomas 7" + } + } + ], + "metaData": { + "created": "2024-06-11T18:49:29.895604Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Paramolar_tubercle_of_bolk_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paramolar_tubercle_of_bolk_patient_1.json new file mode 100644 index 000000000..b3385a962 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paramolar_tubercle_of_bolk_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "paramolar_tubercle_of_bolk", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000164", + "label": "Abnormality of the dentition" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:168200", + "label": "Paramolar tubercle of bolk" + } + } + ], + "metaData": { + "created": "2024-06-11T22:09:48.609219Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Parasomnia_Sleepwalking_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parasomnia_Sleepwalking_type_patient_1.json new file mode 100644 index 000000000..cd2ce1f68 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parasomnia_Sleepwalking_type_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "parasomnia,_sleepwalking_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030765", + "label": "Sleep terror" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613938", + "label": "Parasomnia, Sleepwalking type" + } + } + ], + "metaData": { + "created": "2024-06-11T18:43:28.204366Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parathyroid_carcinoma_patient_1.json new file mode 100644 index 000000000..9720c2841 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parathyroid_carcinoma_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "parathyroid_carcinoma", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000843", + "label": "Hyperparathyroidism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608266", + "label": "Parathyroid carcinoma" + } + } + ], + "metaData": { + "created": "2024-06-11T18:09:19.164870Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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+ "label": "Parietal foramina" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0012811", + "label": "Wide nasal ridge" + } + }, + { + "type": { + "id": "HP:0001057", + "label": "Aplasia cutis congenita" + } + }, + { + "type": { + "id": "HP:0002085", + "label": "Occipital encephalocele" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609597", + "label": "Parietal foramina 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:14:56.334551Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Parietal_foramina_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parietal_foramina_3_patient_1.json new file mode 100644 index 000000000..45a098602 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parietal_foramina_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "parietal_foramina_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002697", + "label": "Parietal foramina" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609566", + "label": "Parietal foramina 3" + } + } + ], + "metaData": { + "created": "2024-06-12T02:16:37.072305Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Parietal_foramina_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parietal_foramina_patient_1.json new file mode 100644 index 000000000..95daf2e25 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parietal_foramina_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "parietal_foramina", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004471", + "label": "Aplasia cutis congenita over the scalp vertex" + } + }, + { + "type": { + "id": "HP:0410030", + "label": "Cleft lip" + } + }, + { + "type": { + "id": "HP:0012199", + "label": "Cluster headache" + } + }, + { + "type": { + "id": "HP:0011819", + "label": "Submucous cleft soft palate" + } + }, + { + "type": { + "id": "HP:0002683", + "label": "Abnormal calvaria morphology" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0020219", + "label": "Motor seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:168500", + "label": "Parietal foramina" + } + } + ], + "metaData": { + "created": "2024-06-11T23:25:11.998891Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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+ "id": "OMIM:168550", + "label": "Parietal foramina with cleidocranial dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T20:58:00.209542Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_11_patient_1.json new file mode 100644 index 000000000..cb7cdad4e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_11_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "parkinson_disease_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002548", + "label": "Parkinsonism with favorable response to dopaminergic medication" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607688", + "label": "Parkinson disease 11" + } + } + ], + "metaData": { + "created": "2024-06-11T22:19:02.797996Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_13_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_13_patient_1.json new file mode 100644 index 000000000..05caf368f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_13_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "parkinson_disease_13", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P48Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002548", + "label": "Parkinsonism with favorable response to dopaminergic medication" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003596", + "label": "Middle age onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610297", + "label": "Parkinson disease 13" + } + } + ], + "metaData": { + "created": "2024-06-11T22:01:29.812218Z", 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atrophy" + } + }, + { + "type": { + "id": "HP:0002067", + "label": "Bradykinesia" + } + }, + { + "type": { + "id": "HP:0031833", + "label": "Hypometric upward saccades" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612953", + "label": "Parkinson disease 14, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T19:01:33.606686Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_15_autosomal_recessive_early_onset_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_15_autosomal_recessive_early_onset_patient_1.json new file mode 100644 index 000000000..99cb6ab88 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_15_autosomal_recessive_early_onset_patient_1.json @@ -0,0 +1,128 @@ +{ + "id": "parkinson_disease_15,_autosomal_recessive_early-onset", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P22Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000338", + "label": "Hypomimic face" + } + }, + { + "type": { + "id": "HP:0002061", + "label": "Lower limb spasticity" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011462", + "label": "Young adult onset" + } + } + }, + { + "type": { + "id": "HP:0002548", + "label": "Parkinsonism with favorable response 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"parkinson_disease_17", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001300", + "label": "Parkinsonism" + } + }, + { + "type": { + "id": "HP:0002322", + "label": "Resting tremor" + } + }, + { + "type": { + "id": "HP:0100660", + "label": "Dyskinesia" + } + }, + { + "type": { + "id": "HP:0002067", + "label": "Bradykinesia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614203", + "label": "Parkinson disease 17" + } + } + ], + "metaData": { + "created": "2024-06-11T19:29:28.882029Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_18_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_18_patient_1.json new file mode 100644 index 000000000..dcdd0fe92 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_18_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "parkinson_disease_18", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002322", + "label": "Resting tremor" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614251", + "label": "Parkinson disease 18" + } + } + ], + "metaData": { + "created": "2024-06-12T02:16:39.804281Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", 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"Dystonia" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0002172", + "label": "Postural instability" + } + }, + { + "type": { + "id": "HP:0002509", + "label": "Limb hypertonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615528", + "label": "Parkinson disease 19a, juvenile-onset" + } + } + ], + "metaData": { + "created": "2024-06-11T22:39:18.147131Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_1_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_1_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..e69afc25a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_1_autosomal_dominant_patient_1.json @@ -0,0 +1,86 @@ +{ + "id": "parkinson_disease_1,_autosomal_dominant", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P66Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002283", + "label": "Global brain atrophy" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003584", + "label": "Late onset" + } + } + }, + { + "type": { + "id": "HP:0002063", + "label": "Rigidity" + } + }, + { + "type": { + "id": "HP:0002505", + "label": "Loss of ambulation" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003584", + "label": "Late onset" + } + } + }, + { + "type": { + "id": "HP:0000012", + "label": "Urinary urgency" + } + }, + { + "type": { + "id": "HP:0002527", + "label": "Falls" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:168601", + "label": "Parkinson disease 1, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:32.747572Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_20_early_onset_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_20_early_onset_patient_1.json new file mode 100644 index 000000000..7e51ebcce --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_20_early_onset_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "parkinson_disease_20,_early-onset", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004305", + "label": "Involuntary movements" + } + }, + { + "type": { + "id": "HP:0002120", + "label": "Cerebral cortical atrophy" + } + }, + { + "type": { + "id": "HP:0002063", + "label": "Rigidity" + } + }, + { + "type": { + "id": "HP:0025401", + "label": "Staring gaze" + } + }, + { + "type": { + "id": "HP:0025403", + "label": "Stooped posture" + } + }, + { + "type": { + "id": "HP:0007024", + "label": "Pseudobulbar paralysis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615530", + "label": "Parkinson disease 20, early-onset" + } + } + ], + "metaData": { + "created": "2024-06-11T19:44:08.535953Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_21_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_21_patient_1.json new file mode 100644 index 000000000..82ed38f9d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_21_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "parkinson_disease_21", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002172", + "label": "Postural instability" + } + }, + { + "type": { + "id": "HP:0002067", + "label": "Bradykinesia" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616361", + "label": "Parkinson disease 21" + } + } + ], + "metaData": { + "created": "2024-06-11T20:32:55.278166Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_22_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_22_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..338efc42e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_22_autosomal_dominant_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "parkinson_disease_22,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001276", + "label": "Hypertonia" + } + }, + { + "type": { + "id": "HP:0004926", + "label": "Orthostatic hypotension due to autonomic dysfunction" + } + }, + { + "type": { + "id": "HP:0012451", + "label": "Acute constipation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616710", + "label": "Parkinson disease 22, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T18:57:12.006750Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_23_autosomal_recessive_early_onset_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_23_autosomal_recessive_early_onset_patient_1.json new file mode 100644 index 000000000..23087a881 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_23_autosomal_recessive_early_onset_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "parkinson_disease_23,_autosomal_recessive_early-onset", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002322", + "label": "Resting tremor" + } + }, + { + "type": { + "id": "HP:0007256", + "label": "Abnormal pyramidal sign" + } + }, + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0012332", + "label": "Abnormal autonomic nervous system physiology" + } + }, + { + "type": { + "id": "HP:0000726", + "label": "Dementia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616840", + "label": "Parkinson disease 23, autosomal recessive early-onset" + } + } + ], + "metaData": { + "created": "2024-06-11T18:43:28.228315Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_24_autosomal_dominant_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_24_autosomal_dominant_susceptibility_to_patient_1.json new file mode 100644 index 000000000..06b332360 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_24_autosomal_dominant_susceptibility_to_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "parkinson_disease_24,_autosomal_dominant,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001300", + "label": "Parkinsonism" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619491", + "label": "Parkinson disease 24, autosomal dominant, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T19:47:24.133542Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_25_autosomal_recessive_early_onset_with_impaired_intellectual_development_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_25_autosomal_recessive_early_onset_with_impaired_intellectual_development_patient_1.json new file mode 100644 index 000000000..a3ed43da5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_25_autosomal_recessive_early_onset_with_impaired_intellectual_development_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "parkinson_disease_25,_autosomal_recessive_early-onset,_with_impaired_intellectual_development", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000739", + "label": "Anxiety" + } + }, + { + "type": { + "id": "HP:0002067", + "label": "Bradykinesia" + } + }, + { + "type": { + "id": "HP:0012452", + "label": "Restless legs" + } + }, + { + "type": { + "id": "HP:0002548", + "label": "Parkinsonism with favorable response to dopaminergic medication" + } + }, + { + "type": { + "id": "HP:0002187", + "label": "Intellectual disability, profound" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620482", + "label": "Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development" + } + } + ], + "metaData": { + "created": "2024-06-11T23:21:06.253200Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_4_patient_1.json new file mode 100644 index 000000000..c0fb6a8a9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_4_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "parkinson_disease_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000738", + "label": "Hallucinations" + } + }, + { + "type": { + "id": "HP:0100315", + "label": "Lewy bodies" + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + }, + { + "type": { + "id": "HP:0005341", + "label": "Autonomic bladder dysfunction" + } + }, + { + "type": { + "id": "HP:0000727", + "label": "Frontal lobe dementia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605543", + "label": "Parkinson disease 4" + } + } + ], + "metaData": { + "created": "2024-06-11T17:47:00.437255Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_5_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_5_susceptibility_to_patient_1.json new file mode 100644 index 000000000..487ba77ec --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_5_susceptibility_to_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "parkinson_disease_5,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002548", + "label": "Parkinsonism with favorable response to dopaminergic medication" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613643", + "label": "Parkinson disease 5, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T18:32:21.597791Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_6_autosomal_recessive_early_onset_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_6_autosomal_recessive_early_onset_patient_1.json new file mode 100644 index 000000000..dc4993c42 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_6_autosomal_recessive_early_onset_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "parkinson_disease_6,_autosomal_recessive_early-onset", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000726", + "label": "Dementia" + } + }, + { + "type": { + "id": "HP:0011444", + "label": "Decorticate rigidity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605909", + "label": "Parkinson disease 6, autosomal recessive early-onset" + } + } + ], + "metaData": { + "created": "2024-06-11T22:17:50.200634Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_7_autosomal_recessive_early_onset_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_7_autosomal_recessive_early_onset_patient_1.json new file mode 100644 index 000000000..97a244ed2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_7_autosomal_recessive_early_onset_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "parkinson_disease_7,_autosomal_recessive_early-onset", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002063", + "label": "Rigidity" + } + }, + { + "type": { + "id": "HP:0000643", + "label": "Blepharospasm" + } + }, + { + "type": { + "id": "HP:0002067", + "label": "Bradykinesia" + } + }, + { + "type": { + "id": "HP:0002174", + "label": "Postural tremor" + } + }, + { + "type": { + "id": "HP:0000739", + "label": "Anxiety" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606324", + "label": "Parkinson disease 7, autosomal recessive early-onset" + } + } + ], + "metaData": { + "created": "2024-06-12T01:24:02.732920Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_8_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_8_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..6c2b41ab6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_8_autosomal_dominant_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "parkinson_disease_8,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002067", + "label": "Bradykinesia" + } + }, + { + "type": { + "id": "HP:0100705", + "label": "Abnormal glial cell morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607060", + "label": "Parkinson disease 8, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T21:13:25.503620Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_juvenile_type_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_juvenile_type_2_patient_1.json new file mode 100644 index 000000000..c79556cd5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_juvenile_type_2_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "parkinson_disease,_juvenile,_type_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001337", + "label": "Tremor" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0001300", + "label": "Parkinsonism" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600116", + "label": "Parkinson disease, juvenile, type 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:12:05.610405Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_late_onset_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_late_onset_patient_1.json new file mode 100644 index 000000000..8f9e30b90 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinson_disease_late_onset_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "parkinson_disease,_late-onset", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002360", + "label": "Sleep abnormality" + } + }, + { + "type": { + "id": "HP:0001300", + "label": "Parkinsonism" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0001337", + "label": "Tremor" + } + }, + { + "type": { + "id": "HP:0007311", + "label": "Short stepped shuffling gait" + } + }, + { + "type": { + "id": "HP:0002015", + "label": "Dysphagia" + } + }, + { + "type": { + "id": "HP:0006896", + "label": "Hypnopompic hallucination" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:168600", + "label": "Parkinson disease, late-onset" + } + } + ], + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Parkinsonism_Dystonia_infantile_1_patient_1.json @@ -0,0 +1,134 @@ +{ + "id": "parkinsonism-dystonia,_infantile,_1", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008936", + "label": "Axial hypotonia" + } + }, + { + "type": { + "id": "HP:0034201", + "label": "Increased CSF homovanillic acid concentration" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0002067", + "label": "Bradykinesia" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0000338", + "label": "Hypomimic face" + } + }, + { + "type": { + "id": "HP:0002451", + "label": "Limb dystonia" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paroxysmal_nocturnal_hemoglobinuria_patient_1.json new file mode 100644 index 000000000..7c1162704 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paroxysmal_nocturnal_hemoglobinuria_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "paroxysmal_nocturnal_hemoglobinuria", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004818", + "label": "Paroxysmal nocturnal hemoglobinuria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300818", + "label": "Paroxysmal nocturnal hemoglobinuria" + } + } + ], + "metaData": { + "created": "2024-06-12T00:30:19.218102Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paroxysmal_nonkinesigenic_dyskinesia_2_patient_1.json new file mode 100644 index 000000000..28ef706c1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Paroxysmal_nonkinesigenic_dyskinesia_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "paroxysmal_nonkinesigenic_dyskinesia_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002268", + "label": "Paroxysmal dystonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611147", + "label": "Paroxysmal nonkinesigenic dyskinesia 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:02:37.854816Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Patella_aplasia_hypoplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Patella_aplasia_hypoplasia_patient_1.json new file mode 100644 index 000000000..c01054100 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Patella_aplasia_hypoplasia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "patella_aplasia-hypoplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003065", + "label": "Patellar hypoplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:168860", + "label": "Patella aplasia-hypoplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:41:43.593187Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Patent_ductus_arteriosus_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "patent_ductus_arteriosus_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001643", + "label": "Patent ductus arteriosus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607411", + "label": "Patent ductus arteriosus 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:25:58.263781Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Patent_ductus_arteriosus_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Patent_ductus_arteriosus_2_patient_1.json new file mode 100644 index 000000000..d84914f6d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Patent_ductus_arteriosus_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "patent_ductus_arteriosus_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001643", + "label": "Patent ductus arteriosus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617035", + "label": "Patent ductus arteriosus 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:38:33.960173Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Patent_ductus_arteriosus_and_bicuspid_aortic_valve_with_hand_anomalies_patient_1.json new file mode 100644 index 000000000..97edd12d2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Patent_ductus_arteriosus_and_bicuspid_aortic_valve_with_hand_anomalies_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "patent_ductus_arteriosus_and_bicuspid_aortic_valve_with_hand_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001643", + "label": "Patent ductus arteriosus" + } + }, + { + "type": { + "id": "HP:0001831", + "label": "Short toe" + } + }, + { + "type": { + "id": "HP:0005769", + "label": "Fifth finger distal phalanx clinodactyly" + } + }, + { + "type": { + "id": "HP:0006496", + "label": "Aplasia/hypoplasia involving bones of the upper limbs" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604381", + "label": "Patent ductus arteriosus and bicuspid aortic 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Patent_ductus_venosus_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "patent_ductus_venosus", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001397", + "label": "Hepatic steatosis" + } + }, + { + "type": { + "id": "HP:0012021", + "label": "Persistent patent ductus venosus" + } + }, + { + "type": { + "id": "HP:0001987", + "label": "Hyperammonemia" + } + }, + { + "type": { + "id": "HP:0012024", + "label": "Hypergalactosemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601466", + "label": "Patent ductus venosus" + } + } + ], + "metaData": { + "created": "2024-06-11T22:51:30.646194Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": 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"type": { + "id": "HP:0004906", + "label": "Hypernatremic dehydration" + } + }, + { + "type": { + "id": "HP:0410256", + "label": "Infection associated neutropenia" + } + }, + { + "type": { + "id": "HP:5200241", + "label": "Recurrent maladaptive behavior" + } + }, + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0001017", + "label": "Anemic pallor" + } + }, + { + "type": { + "id": "HP:0001941", + "label": "Acidosis" + } + }, + { + "type": { + "id": "HP:0001896", + "label": "Reticulocytopenia" + } + }, + { + "type": { + "id": "HP:0001438", + "label": "Abnormal abdomen morphology" + } + }, + { + "type": { + "id": "HP:0032943", + "label": "Abnormal urine pH" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:557000", + "label": "Pearson marrow-pancreas syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:48:35.163040Z", + 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"subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:169200", + "label": "Pechet factor deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T19:09:00.938792Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Peeling_skin_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peeling_skin_syndrome_1_patient_1.json new file mode 100644 index 000000000..e061e6977 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peeling_skin_syndrome_1_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "peeling_skin_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001019", + "label": "Erythroderma" + } + }, + { + "type": { + "id": "HP:0002299", + "label": "Brittle hair" + } + }, + { + "type": { + "id": "HP:0040189", + "label": "Scaling skin" + } + }, + { + "type": { + "id": "HP:0003212", + "label": "Increased circulating IgE level" + } + }, + { + "type": { + "id": "HP:0000989", + "label": "Pruritus" + } + }, + { + "type": { + "id": "HP:0007410", + "label": "Palmoplantar hyperhidrosis" + } + }, + { + "type": { + "id": "HP:0032151", + "label": "Episodic eosinophilia" + } + }, + { + "type": { + "id": "HP:0034838", + "label": "Cleavage at junction of stratum corneum and stratum granulosum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:270300", + "label": "Peeling skin syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:11:26.900891Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Peeling_skin_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peeling_skin_syndrome_2_patient_1.json new file mode 100644 index 000000000..1a4e3cea1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peeling_skin_syndrome_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "peeling_skin_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010783", + "label": "Erythema" + } + }, + { + "type": { + "id": "HP:0033802", + "label": "Intra-epidermal blistering" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609796", + "label": "Peeling skin syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T17:54:55.297547Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Peeling_skin_syndrome_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peeling_skin_syndrome_3_patient_1.json new file mode 100644 index 000000000..09a5237a7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peeling_skin_syndrome_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "peeling_skin_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040190", + "label": "White scaling skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616265", + "label": "Peeling skin syndrome 3" + } + } + ], + "metaData": { + "created": "2024-06-11T17:46:17.509541Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": 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"HP:0008404", + "label": "Nail dystrophy" + } + }, + { + "type": { + "id": "HP:0010765", + "label": "Palmar hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607936", + "label": "Peeling skin syndrome 4" + } + } + ], + "metaData": { + "created": "2024-06-11T21:38:41.559189Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Peeling_skin_syndrome_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peeling_skin_syndrome_5_patient_1.json new file mode 100644 index 000000000..acd1b2d6c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peeling_skin_syndrome_5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "peeling_skin_syndrome_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025092", + "label": "Epidermal acanthosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617115", + "label": "Peeling skin syndrome 5" + } + } + ], + "metaData": { + "created": "2024-06-11T22:37:26.237184Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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"label": "Peeling skin syndrome 6" + } + } + ], + "metaData": { + "created": "2024-06-12T02:23:19.037311Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Peeling_skin_with_leukonychia_acral_punctate_keratoses_cheilitis_and_knuckle_pads_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peeling_skin_with_leukonychia_acral_punctate_keratoses_cheilitis_and_knuckle_pads_patient_1.json new file mode 100644 index 000000000..f20c81fb0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peeling_skin_with_leukonychia_acral_punctate_keratoses_cheilitis_and_knuckle_pads_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "peeling_skin_with_leukonychia,_acral_punctate_keratoses,_cheilitis,_and_knuckle_pads", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001820", + "label": "Leukonychia" + } + }, + { + "type": { + "id": "HP:0030318", + "label": "Angular cheilitis" + } + }, + { + "type": { + "id": "HP:0007502", + "label": "Follicular hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0025080", + "label": "Orthokeratotic hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616295", + "label": "Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads" + } + } + ], + "metaData": { + "created": "2024-06-11T23:35:54.460588Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Peho_Like_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peho_Like_syndrome_patient_1.json new file mode 100644 index 000000000..b3092d285 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peho_Like_syndrome_patient_1.json @@ -0,0 +1,152 @@ +{ + "id": "peho-like_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001336", + "label": "Myoclonus" + } + }, + { + "type": { + "id": "HP:0002069", + "label": "Bilateral tonic-clonic seizure" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0007105", + "label": "Infantile encephalopathy" + }, + "modifiers": [ + { + "id": "HP:0003676", + "label": "Progressive" + } + ] + }, + { + "type": { + "id": "HP:0025405", + "label": "Visual fixation instability" + } + }, + { + "type": { + "id": "HP:0001272", + "label": "Cerebellar atrophy" + }, + "modifiers": [ + { + "id": "HP:0003676", + "label": "Progressive" + } + ] + }, + { + "type": { + "id": "HP:0010993", + "label": "Abnormal cerebral subcortex morphology" + } + }, + { + "type": { + "id": "HP:0000253", + "label": "Progressive microcephaly" + } + }, + { + "type": { + "id": "HP:0200096", + "label": "Triangular-shaped open mouth" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0000340", + "label": "Sloping forehead" + } + }, + { + "type": { + "id": "HP:0002536", + "label": "Abnormal cortical gyration" + } + }, + { + "type": { + "id": "HP:0012381", + "label": "Delayed self-feeding during toddler years" + } + }, + { + "type": { + "id": "HP:0034434", + "label": "Abnormal communication" + } + }, + { + "type": { + "id": "HP:0000277", + "label": "Abnormal mandible morphology" + } + }, + { + "type": { + "id": "HP:0003808", + "label": "Abnormal muscle tone" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617507", + "label": "Peho-Like syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:59:52.090736Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Peho_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peho_syndrome_patient_1.json new file mode 100644 index 000000000..c466be000 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peho_syndrome_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "peho_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + }, + { + "type": { + "id": "HP:0001272", + "label": "Cerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0007965", + "label": "Undetectable visual evoked potentials" + } + }, + { + "type": { + "id": "HP:0000286", + "label": "Epicanthus" + } + }, + { + "type": { + "id": "HP:0000253", + "label": "Progressive microcephaly" + } + }, + { + "type": { + "id": "HP:0003196", + "label": "Short nose" + } + }, + { + "type": { + "id": "HP:0003469", + "label": "Peripheral dysmyelination" + } + }, + { + "type": { + "id": "HP:0001336", + "label": "Myoclonus" + } + }, + { + "type": { + "id": "HP:0007514", + "label": "Edema of the dorsum of hands" + } + }, + { + "type": { + "id": "HP:0004426", + "label": "Abnormal cheek morphology" + } + }, + { + "type": { + "id": "HP:0006829", + "label": "Severe muscular hypotonia" + } + }, + { + "type": { + "id": "HP:0006849", + "label": "Hypodysplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0000341", + "label": "Narrow forehead" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + }, + { + "type": { + "id": "HP:0001182", + "label": "Tapered finger" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:260565", + "label": "Peho syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:25:58.147534Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pelger_Huet_anomaly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pelger_Huet_anomaly_patient_1.json new file mode 100644 index 000000000..651833a8a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pelger_Huet_anomaly_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "pelger-huet_anomaly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009099", + "label": "Median cleft palate" + } + }, + { + "type": { + "id": "HP:0006895", + "label": "Lower limb hypertonia" + } + }, + { + "type": { + "id": "HP:0009824", + "label": "Upper limb undergrowth" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0001874", + "label": "Abnormality of neutrophils" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0000164", + "label": "Abnormality of the dentition" + } + }, + { + "type": { + "id": "HP:0010442", + "label": "Polydactyly" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:169400", + "label": "Pelger-Huet anomaly" + } + } + ], + "metaData": { + "created": "2024-06-11T18:10:58.400690Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pelizaeus_Merzbacher_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pelizaeus_Merzbacher_disease_patient_1.json new file mode 100644 index 000000000..2a9efcbc0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pelizaeus_Merzbacher_disease_patient_1.json @@ -0,0 +1,248 @@ +{ + "id": "pelizaeus-merzbacher_disease", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002599", + "label": "Head titubation" + } + }, + { + "type": { + "id": "HP:0002356", + "label": "Writer's cramp" + } + }, + { + "type": { + "id": "HP:0007325", + "label": "Generalized dystonia" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0007266", + "label": "Cerebral dysmyelination" + } + }, + { + "type": { + "id": "HP:0001268", + "label": "Mental deterioration" + } + }, + { + "type": { + "id": "HP:0002283", + "label": "Global brain atrophy" + } + }, + { + "type": { + "id": "HP:0001258", + "label": "Spastic paraplegia" + } + }, + { + "type": { + "id": "HP:0000741", + "label": "Apathy" + } + }, + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + }, + { + "type": { + "id": "HP:0002080", + "label": "Intention tremor" + } + }, + { + "type": { + "id": "HP:0001337", + "label": "Tremor" + } + }, + { + "type": { + "id": "HP:0000012", + "label": "Urinary urgency" + } + }, + { + "type": { + "id": "HP:0002540", + "label": "Inability to walk" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0003429", + "label": "CNS hypomyelination" + } + }, + { + "type": { + "id": "HP:0000716", + "label": "Depression" + } + }, + { + "type": { + "id": "HP:0006855", + "label": "Cerebellar vermis atrophy" + } + }, + { + "type": { + "id": "HP:0001265", + "label": "Hyporeflexia" + } + }, + { + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pelvic_dysplasia_arthrogryposis_of_lower_limbs_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pelvic_dysplasia_arthrogryposis_of_lower_limbs_patient_1.json new file mode 100644 index 000000000..6b8ec0258 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pelvic_dysplasia_arthrogryposis_of_lower_limbs_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "pelvic_dysplasia_-_arthrogryposis_of_lower_limbs", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003273", + "label": "Hip contracture" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0040163", + "label": "Abnormal pelvis bone morphology" + } + }, + { + "type": { + "id": "HP:0003307", + "label": "Hyperlordosis" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pelvic_lipomatosis_with_crossed_renal_ectopia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pelvic_lipomatosis_with_crossed_renal_ectopia_patient_1.json new file mode 100644 index 000000000..f9fa4a37f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pelvic_lipomatosis_with_crossed_renal_ectopia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pelvic_lipomatosis_with_crossed_renal_ectopia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000086", + "label": "Ectopic kidney" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:169545", + "label": "Pelvic lipomatosis with crossed renal ectopia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:43:12.421432Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pelvis_Shoulder_dysplasia_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "pelvis-shoulder_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001374", + "label": "Congenital hip dislocation" + } + }, + { + "type": { + "id": "HP:0000882", + "label": "Hypoplastic scapulae" + } + }, + { + "type": { + "id": "HP:0008824", + "label": "Hypoplastic iliac body" + } + }, + { + "type": { + "id": "HP:0000588", + "label": "Optic disc coloboma" + } + }, + { + "type": { + "id": "HP:0045005", + "label": "Neural tube defect" + } + }, + { + "type": { + "id": "HP:0001384", + "label": "Abnormal hip joint morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:169550", + "label": "Pelvis-Shoulder dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:40:48.152602Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"HP:0200097", + "label": "Oral mucosal blisters" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:169610", + "label": "Pemphigus vulgaris, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T19:01:20.304395Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pendred_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pendred_syndrome_patient_1.json new file mode 100644 index 000000000..d7df12628 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pendred_syndrome_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "pendred_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001751", + "label": "Abnormal vestibular function" + } + }, + { + "type": { + "id": "HP:0008554", + "label": "Cochlear malformation" + } + }, + { + "type": { + "id": "HP:0000853", + "label": "Goiter" + } + }, + { + "type": { + "id": "HP:0002890", + "label": "Thyroid carcinoma" + } + }, + { + "type": { + "id": "HP:0008527", + "label": "Congenital sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:274600", + "label": "Pendred syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:11:31.117619Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { 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"id": "perifolliculitis_capitis_abscedens_et_suffodiens,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001596", + "label": "Alopecia" + } + }, + { + "type": { + "id": "HP:0002293", + "label": "Alopecia of scalp" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:260910", + "label": "Perifolliculitis capitis abscedens et suffodiens, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T22:50:14.017677Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Periodic_fever_familial_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Periodic_fever_familial_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..14f34565f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Periodic_fever_familial_autosomal_dominant_patient_1.json @@ -0,0 +1,92 @@ +{ + "id": "periodic_fever,_familial,_autosomal_dominant", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P31Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033087", + "label": "Quotidian fever" + } + }, + { + "type": { + "id": "HP:0012280", + "label": "Hepatic amyloidosis" + } + }, + { + "type": { + "id": "HP:0025021", + "label": "Abnormal erythrocyte sedimentation rate" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0008967", + "label": "Exercise-induced muscle stiffness" + } + }, + { + "type": { + "id": "HP:0002331", + "label": "Recurrent paroxysmal headache" + } + }, + { + "type": { + "id": "HP:0005059", + "label": "Arthralgia/arthritis" + } + }, + { + "type": { + "id": "HP:0002733", + "label": "Abnormal lymph node morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:142680", + "label": "Periodic fever, familial, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T18:34:25.678622Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Periodontitis_aggressive_1_patient_1.json new file mode 100644 index 000000000..a8af8c106 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Periodontitis_aggressive_1_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "periodontitis,_aggressive,_1", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006480", + "label": "Premature loss of teeth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:170650", + "label": "Periodontitis, aggressive, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:38:17.313015Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Peripheral_demyelinating_neuropathy_central_dysmyelination_Waardenburg_syndrome_and_Hirschsprung_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peripheral_demyelinating_neuropathy_central_dysmyelination_Waardenburg_syndrome_and_Hirschsprung_disease_patient_1.json new file mode 100644 index 000000000..aedf53e44 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peripheral_demyelinating_neuropathy_central_dysmyelination_Waardenburg_syndrome_and_Hirschsprung_disease_patient_1.json @@ -0,0 +1,165 @@ +{ + "id": "peripheral_demyelinating_neuropathy,_central_dysmyelination,_waardenburg_syndrome,_and_hirschsprung_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000966", + "label": "Hypohidrosis" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0012373", + "label": "Abnormal 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Peripheral_motor_neuropathy_childhood_onset_biotin_responsive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peripheral_motor_neuropathy_childhood_onset_biotin_responsive_patient_1.json new file mode 100644 index 000000000..25581714b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peripheral_motor_neuropathy_childhood_onset_biotin_responsive_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "peripheral_motor_neuropathy,_childhood-onset,_biotin-responsive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000023", + "label": "Inguinal hernia" + } + }, + { + "type": { + "id": "HP:0009053", + "label": "Distal lower limb muscle weakness" + } + }, + { + "type": { + "id": "HP:0003393", + "label": "Thenar muscle atrophy" + } + }, + { + "type": { + "id": "HP:0002522", + "label": "Areflexia of lower limbs" + } + }, + { + "type": { + "id": "HP:0002216", + 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neuropathy, ataxia, focal necrotizing encephalopathy, and" + } + } + ], + "metaData": { + "created": "2024-06-11T21:35:48.415289Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Peripheral_neuropathy_autosomal_recessive_with_or_without_impaired_intellectual_development_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peripheral_neuropathy_autosomal_recessive_with_or_without_impaired_intellectual_development_patient_1.json new file mode 100644 index 000000000..61aab271b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peripheral_neuropathy_autosomal_recessive_with_or_without_impaired_intellectual_development_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "peripheral_neuropathy,_autosomal_recessive,_with_or_without_impaired_intellectual_development", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003477", + "label": "Peripheral axonal neuropathy" + } + }, + { + "type": { + "id": "HP:0001513", + "label": "Obesity" + } + }, + { + "type": { + "id": "HP:0007021", + "label": "Pain insensitivity" + } + }, + { + "type": { + "id": "HP:0010862", + "label": "Delayed fine motor development" + } + }, + { + "type": { + "id": "HP:0005922", + "label": "Abnormal hand morphology" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618124", + "label": "Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development" + } + } + ], + "metaData": { + "created": "2024-06-11T23:44:56.629274Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Peripheral_neuropathy_myopathy_hoarseness_and_hearing_loss_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peripheral_neuropathy_myopathy_hoarseness_and_hearing_loss_patient_1.json new file mode 100644 index 000000000..caf8d6e76 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peripheral_neuropathy_myopathy_hoarseness_and_hearing_loss_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "peripheral_neuropathy,_myopathy,_hoarseness,_and_hearing_loss", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0004305", + "label": "Involuntary movements" + } + }, + { + "type": { + "id": "HP:0008090", + "label": "Ankylosis of feet small joints" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peripheral_neuropathy_with_variable_spasticity_exercise_intolerance_and_developmental_delay_patient_1.json new file mode 100644 index 000000000..bd6713550 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peripheral_neuropathy_with_variable_spasticity_exercise_intolerance_and_developmental_delay_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "peripheral_neuropathy_with_variable_spasticity,_exercise_intolerance,_and_developmental_delay", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000737", + "label": "Irritability" + } + }, + { + "type": { + "id": "HP:0001394", + "label": "Cirrhosis" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0002151", + "label": "Increased circulating lactate concentration" + } + }, + { + "type": { + "id": "HP:0000592", + "label": "Blue sclerae" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peroneal_nerve_accessory_deep_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "peroneal_nerve,_accessory_deep", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000707", + "label": "Abnormality of the nervous system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:170980", + "label": "Peroneal nerve, accessory deep" + } + } + ], + "metaData": { + "created": "2024-06-12T01:40:54.774052Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Peroneus_tertius_muscle_absence_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peroneus_tertius_muscle_absence_of_patient_1.json new file mode 100644 index 000000000..0e95b000d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peroneus_tertius_muscle_absence_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "peroneus_tertius_muscle,_absence_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009027", + "label": "Foot dorsiflexor weakness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:261400", + "label": "Peroneus tertius muscle, absence of" + } + } + ], + "metaData": { + "created": "2024-06-11T22:59:47.471692Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Peroxisome_biogenesis_disorder_11B_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peroxisome_biogenesis_disorder_11B_patient_1.json new file mode 100644 index 000000000..56aa3e627 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peroxisome_biogenesis_disorder_11B_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "peroxisome_biogenesis_disorder_11b", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614885", + "label": "Peroxisome biogenesis disorder 11B" + } + } + ], + "metaData": { + "created": "2024-06-11T18:56:36.183150Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + 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+ } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Peroxisome_biogenesis_disorder_14B_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peroxisome_biogenesis_disorder_14B_patient_1.json new file mode 100644 index 000000000..a90d0ceba --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peroxisome_biogenesis_disorder_14B_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "peroxisome_biogenesis_disorder_14b", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001583", + "label": "Rotary nystagmus" + } + }, + { + "type": { + "id": "HP:0000519", + "label": "Developmental cataract" + } + }, + { + "type": { + "id": "HP:0002522", + "label": "Areflexia of lower limbs" + } + }, + { + "type": { + "id": "HP:0000549", + "label": "Abnormal conjugate eye movement" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + 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file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Peroxisome_biogenesis_disorder_8B_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peroxisome_biogenesis_disorder_8B_patient_1.json new file mode 100644 index 000000000..2d5a796ee --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peroxisome_biogenesis_disorder_8B_patient_1.json @@ -0,0 +1,207 @@ +{ + "id": "peroxisome_biogenesis_disorder_8b", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0010571", + "label": "Elevated circulating phytanic acid concentration" + } + }, + { + "type": { + "id": "HP:0002015", + "label": "Dysphagia" + } + }, + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0030051", + "label": "Tip-toe gait" + } + }, + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peroxisome_biogenesis_disorder_9B_patient_1.json @@ -0,0 +1,98 @@ +{ + "id": "peroxisome_biogenesis_disorder_9b", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P75Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000458", + "label": "Anosmia" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0009830", + "label": "Peripheral neuropathy" + } + }, + { + "type": { + "id": "HP:0010633", + "label": "Partial anosmia" + } + }, + { + "type": { + "id": "HP:0012816", + "label": "Right ventricular noncompaction cardiomyopathy" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + }, + { + "type": { + "id": "HP:0031172", + "label": "Sectoral retinitis pigmentosa" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Perrault_syndrome_1_patient_1.json new file mode 100644 index 000000000..dc557679a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Perrault_syndrome_1_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "perrault_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011476", + "label": "Profound sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0012080", + "label": "Cerebellar granular layer atrophy" + } + }, + { + "type": { + "id": "HP:0000812", + "label": "Abnormal internal genitalia" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0030186", + "label": "Kinetic tremor" + } + }, + { + "type": { + "id": "HP:0007141", + "label": "Sensorimotor neuropathy" + } + }, + { + "type": { + "id": "HP:0000786", 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Perrault_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Perrault_syndrome_2_patient_1.json new file mode 100644 index 000000000..892475748 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Perrault_syndrome_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "perrault_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614926", + "label": "Perrault syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:09:24.198380Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { 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"iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Perrault_syndrome_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Perrault_syndrome_4_patient_1.json new file mode 100644 index 000000000..6475ad3f0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Perrault_syndrome_4_patient_1.json @@ -0,0 +1,116 @@ +{ + "id": "perrault_syndrome_4", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000786", + "label": "Primary amenorrhea" + } + }, + { + "type": { + "id": "HP:0008209", + "label": "Premature ovarian insufficiency" + } + }, + { + "type": { + "id": "HP:0000408", + "label": "Progressive sensorineural hearing impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Persistent_hyperplastic_primary_vitreous_autosomal_recessive_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "persistent_hyperplastic_primary_vitreous,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000557", + "label": "Buphthalmos" + } + }, + { + "type": { + "id": "HP:0000482", + "label": "Microcornea" + } + }, + { + "type": { + "id": "HP:0000555", + "label": "Leukocoria" + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + }, + { + "type": { + "id": "HP:0007811", + "label": "Horizontal pendular nystagmus" + } + }, + { + "type": { + "id": "HP:0030744", + "label": "Hyaloid vascular remnant and retrolental mass" + } + }, + { + "type": { + "id": "HP:0032287", + "label": "Ultra-low vision with no light perception" + } + }, + { + "type": { + "id": "HP:0000594", + "label": "Shallow anterior chamber" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Persistent_mullerian_duct_syndrome_types_I_and_II_patient_1.json new file mode 100644 index 000000000..d9364d794 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Persistent_mullerian_duct_syndrome_types_I_and_II_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "persistent_mullerian_duct_syndrome,_types_i_and_ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031103", + "label": "Decreased cirrculating antimullerian hormone circulation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:261550", + "label": "Persistent mullerian duct syndrome, types I and II" + } + } + ], + "metaData": { + "created": "2024-06-11T19:19:33.717004Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + 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file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Peyronie_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peyronie_disease_patient_1.json new file mode 100644 index 000000000..7176a941c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Peyronie_disease_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "peyronie_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005679", + "label": "Dupuytren contracture" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:171000", + "label": "Peyronie disease" + } + } + ], + "metaData": { + "created": "2024-06-11T20:45:04.139054Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": 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index 000000000..e3d8a501b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Phosphoglycerate_dehydrogenase_deficiency_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "phosphoglycerate_dehydrogenase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000519", + "label": "Developmental cataract" + } + }, + { + "type": { + "id": "HP:0001181", + "label": "Adducted thumb" + } + }, + { + "type": { + "id": "HP:0034691", + "label": "Reduced 3-phosphoglycerate dehydrogenase activity" + } + }, + { + "type": { + "id": "HP:0031087", + "label": "Absent pubertal growth spurt" + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0010993", + "label": "Abnormal cerebral subcortex morphology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601815", + "label": "Phosphoglycerate dehydrogenase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T19:31:26.169238Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Phosphoglycerate_kinase_1_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Phosphoglycerate_kinase_1_deficiency_patient_1.json new file mode 100644 index 000000000..caa2c6064 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Phosphoglycerate_kinase_1_deficiency_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "phosphoglycerate_kinase_1_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001098", + "label": "Abnormal fundus morphology" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0033354", + "label": "Abnormal urine metabolite level" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0003715", + "label": "Myofibrillar myopathy" + } + }, + { + "type": { + "id": "HP:0031189", + "label": "Wrist drop" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300653", + "label": "Phosphoglycerate kinase 1 deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T19:51:44.339607Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Phosphoglycerate_mutase_muscle_deficiency_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Phosphoglycerate_mutase_muscle_deficiency_of_patient_1.json new file mode 100644 index 000000000..89cb46472 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Phosphoglycerate_mutase_muscle_deficiency_of_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "phosphoglycerate_mutase,_muscle,_deficiency_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003738", + "label": "Exercise-induced myalgia" + } + }, + { + "type": { + "id": "HP:0033354", + "label": "Abnormal urine metabolite level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:261670", + "label": "Phosphoglycerate mutase, muscle, deficiency of" + } + } + ], + "metaData": { + "created": "2024-06-11T22:31:15.468591Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + 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"id": "HP:0031870", + "label": "Phosphohydroxylysinuria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615011", + "label": "Phosphohydroxylysinuria" + } + } + ], + "metaData": { + "created": "2024-06-11T23:32:40.818629Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Phosphoribosylaminoimidazole_carboxylase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Phosphoribosylaminoimidazole_carboxylase_deficiency_patient_1.json new file mode 100644 index 000000000..48024da88 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Phosphoribosylaminoimidazole_carboxylase_deficiency_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "phosphoribosylaminoimidazole_carboxylase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0004502", + "label": "Bilateral choanal atresia" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0008689", + "label": "Bilateral cryptorchidism" + } + }, + { + "type": { + "id": "HP:0000921", + "label": "Missing ribs" + } + }, + { + "type": { + "id": "HP:0000452", + "label": "Choanal stenosis" + } + }, + { + "type": { + "id": "HP:0000248", + "label": "Brachycephaly" + } + }, + { + "type": { + "id": "HP:0004209", + "label": "Clinodactyly of the 5th finger" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0000032", + "label": "Abnormal male external genitalia morphology" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619859", + "label": "Phosphoribosylaminoimidazole carboxylase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T20:45:04.106746Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Photoparoxysmal_response_1_patient_1.json new file mode 100644 index 000000000..23e9ff0c1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Photoparoxysmal_response_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "photoparoxysmal_response_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010852", + "label": "EEG with photoparoxysmal response" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:132100", + "label": "Photoparoxysmal response 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:28:20.245146Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pick_disease_of_brain_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pick_disease_of_brain_patient_1.json new file mode 100644 index 000000000..08b622be0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pick_disease_of_brain_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "pick_disease_of_brain", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002476", + "label": "Primitive reflex" + } + }, + { + "type": { + "id": "HP:0030213", + "label": "Emotional blunting" + } + }, + { + "type": { + "id": "HP:0000751", + "label": "Personality changes" + } + }, + { + "type": { + "id": "HP:0030223", + "label": "Perseverative 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100644 index 000000000..69a6fbd7b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Piebald_trait_with_neurologic_defects_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "piebald_trait_with_neurologic_defects", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007542", + "label": "Absent pigmentation of the ventral chest" + } + }, + { + "type": { + "id": "HP:0002211", + "label": "White forelock" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:172850", + "label": "Piebald trait with neurologic defects" + } + } + ], + "metaData": { + "created": "2024-06-11T22:30:16.160575Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pierre_Robin_syndrome_and_oligodactyly_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "pierre_robin_syndrome_and_oligodactyly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009380", + "label": "Finger aplasia" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:172880", + "label": "Pierre Robin syndrome and oligodactyly" + } + } + ], + "metaData": { + "created": "2024-06-11T21:38:53.146011Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pierson_syndrome_patient_1.json @@ -0,0 +1,218 @@ +{ + "id": "pierson_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0008056", + "label": "Aplasia/Hypoplasia affecting the eye" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0007774", + "label": "Hypoplasia of the ciliary body" + } + }, + { + "type": { + "id": "HP:0008360", + "label": "Neonatal hypoproteinemia" + } + }, + { + "type": { + "id": "HP:0008677", + "label": "Congenital nephrotic syndrome" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + }, + "onset": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pigmentary_disorder_reticulate_with_systemic_manifestations_X_linked_patient_1.json @@ -0,0 +1,92 @@ +{ + "id": "pigmentary_disorder,_reticulate,_with_systemic_manifestations,_x-linked", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000966", + "label": "Hypohidrosis" + } + }, + { + "type": { + "id": "HP:0002110", + "label": "Bronchiectasis" + } + }, + { + "type": { + "id": "HP:0007390", + "label": "Hyperkeratosis with erythema" + } + }, + { + "type": { + "id": "HP:0007933", + "label": "Broad lateral eyebrow" + } + }, + { + "type": { + "id": "HP:0001531", + "label": "Failure to thrive in infancy" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0002028", + "label": "Chronic diarrhea" + } + }, + { + "type": { + "id": "HP:0011361", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pigmented_nodular_adrenocortical_disease_primary_1_patient_1.json new file mode 100644 index 000000000..a2509be41 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pigmented_nodular_adrenocortical_disease_primary_1_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "pigmented_nodular_adrenocortical_disease,_primary,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000963", + "label": "Thin skin" + } + }, + { + "type": { + "id": "HP:0000869", + "label": "Secondary amenorrhea" + } + }, + { + "type": { + "id": "HP:0003466", + "label": "Paradoxical increased cortisol secretion on dexamethasone suppression test" + } + }, + { + "type": { + "id": "HP:0000716", + "label": "Depression" + } + }, + { + "type": { + "id": "HP:0001065", + "label": "Striae distensae" + } + }, + { + "type": { + "id": "HP:0004324", + "label": "Increased body weight" + } + }, + { + "type": { + "id": 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"id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000822", + "label": "Hypertension" + } + }, + { + "type": { + "id": "HP:0001580", + "label": "Pigmented micronodular adrenocortical disease" + } + }, + { + "type": { + "id": "HP:0001065", + "label": "Striae distensae" + } + }, + { + "type": { + "id": "HP:0000311", + "label": "Round face" + } + }, + { + "type": { + "id": "HP:0000963", + "label": "Thin skin" + } + }, + { + "type": { + "id": "HP:0001579", + "label": "Primary hypercortisolism" + } + }, + { + "type": { + "id": "HP:0000709", + "label": "Psychosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610475", + "label": "Pigmented nodular adrenocortical disease, primary, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:22:54.961665Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", 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"HP:0003118", + "label": "Increased circulating cortisol level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614190", + "label": "Pigmented nodular adrenocortical disease, primary, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T22:12:30.631869Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pigmented_nodular_adrenocortical_disease_primary_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pigmented_nodular_adrenocortical_disease_primary_4_patient_1.json new file mode 100644 index 000000000..9d158afee --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pigmented_nodular_adrenocortical_disease_primary_4_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "pigmented_nodular_adrenocortical_disease,_primary,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025383", + "label": "Dorsocervical fat pad" + } + }, + { + "type": { + "id": "HP:0000938", + "label": "Osteopenia" + } + }, + { + "type": { + "id": "HP:0500011", + "label": "Moon facies" + } + }, + { + "type": { + "id": "HP:0001596", + "label": "Alopecia" + } + }, + { + "type": { + "id": "HP:0000819", + "label": "Diabetes mellitus" + } + }, + { + "type": { + "id": "HP:0004324", + "label": "Increased body weight" + } + }, + { + "type": { + "id": "HP:0003118", + "label": "Increased circulating cortisol level" + } + }, + { + "type": { + "id": "HP:0001007", + "label": "Hirsutism" + } + }, + { + "type": { + "id": "HP:0000978", + "label": "Bruising susceptibility" + } + }, + { + "type": { + "id": "HP:0000822", + "label": "Hypertension" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615830", + "label": "Pigmented nodular adrenocortical disease, primary, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T23:38:59.647027Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pigmented_paravenous_chorioretinal_atrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pigmented_paravenous_chorioretinal_atrophy_patient_1.json new file mode 100644 index 000000000..f3269b627 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pigmented_paravenous_chorioretinal_atrophy_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "pigmented_paravenous_chorioretinal_atrophy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000565", + "label": "Esotropia" + } + }, + { + "type": { + "id": "HP:0007737", + "label": "Bone spicule pigmentation of the retina" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:172870", + "label": "Pigmented paravenous chorioretinal atrophy" + } + } + ], + "metaData": { + "created": "2024-06-11T20:50:05.227987Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0008897", + "label": "Postnatal growth retardation" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0000733", + "label": "Motor stereotypy" + } + }, + { + "type": { + "id": "HP:0000256", + "label": "Macrocephaly" + } + }, + { + "type": { + "id": "HP:0011229", + "label": "Broad eyebrow" + } + }, + { + "type": { + "id": "HP:0010648", + "label": "Dermal translucency" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617682", + "label": "Pilarowski-Bjornsson syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:52:18.880104Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pili_torti_early_onset_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pili_torti_early_onset_patient_1.json new file mode 100644 index 000000000..ae6d4b17b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pili_torti_early_onset_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "pili_torti,_early-onset", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002208", + "label": "Coarse hair" + } + }, + { + "type": { + "id": "HP:0002299", + "label": "Brittle hair" + } + }, + { + "type": { + "id": "HP:0000682", + "label": "Abnormal dental enamel morphology" + } + }, + { + "type": { + "id": "HP:0003777", + "label": "Pili torti" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:261900", + "label": "Pili torti, early-onset" + } + } + ], + "metaData": { + "created": "2024-06-11T20:16:43.176326Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0010769", + "label": "Pilonidal sinus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:173000", + "label": "Pilonidal sinus" + } + } + ], + "metaData": { + "created": "2024-06-11T19:30:54.593631Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pineal_hyperplasia_insulin_resistant_diabetes_mellitus_and_somatic_abnormalities_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pineal_hyperplasia_insulin_resistant_diabetes_mellitus_and_somatic_abnormalities_patient_1.json new file mode 100644 index 000000000..c40ebbe79 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pineal_hyperplasia_insulin_resistant_diabetes_mellitus_and_somatic_abnormalities_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "pineal_hyperplasia,_insulin-resistant_diabetes_mellitus,_and_somatic_abnormalities", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000040", + "label": "Long penis" + } + }, + { + "type": { + "id": "HP:0001943", + "label": "Hypoglycemia" + } + }, + { + "type": { + "id": "HP:0006288", + "label": "Advanced eruption of teeth" + } + }, + { + "type": { + "id": "HP:0000842", + "label": "Hyperinsulinemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:262190", + "label": "Pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities" + } + } + ], + "metaData": { + "created": "2024-06-11T22:32:06.138446Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pitt_Hopkins_Like_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pitt_Hopkins_Like_syndrome_2_patient_1.json new file mode 100644 index 000000000..f360cd52c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pitt_Hopkins_Like_syndrome_2_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "pitt-hopkins-like_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0000154", + "label": "Wide mouth" + } + }, + { + "type": { + "id": "HP:0031139", + "label": "Frog-leg posture" + } + }, + { + "type": { + "id": "HP:0000549", + "label": "Abnormal conjugate eye movement" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0002020", + "label": "Gastroesophageal reflux" + } + }, + { + "type": { + "id": "HP:0000163", + "label": "Abnormal oral cavity morphology" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614325", + "label": "Pitt-Hopkins-Like syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-12T02:19:24.298034Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pitt_Hopkins_like_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pitt_Hopkins_like_syndrome_1_patient_1.json new file mode 100644 index 000000000..4df4bcbf0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pitt_Hopkins_like_syndrome_1_patient_1.json @@ -0,0 +1,116 @@ +{ + "id": "pitt-hopkins_like_syndrome_1", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000280", + "label": "Coarse facial features" + } + }, + { + "type": { + "id": "HP:0012433", + "label": "Abnormal social behavior" + } + }, + { + "type": { + "id": "HP:0012392", + "label": "Jaw hyporeflexia" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0005490", + "label": "Postnatal macrocephaly" + } + }, + { + "type": { + "id": "HP:0002353", + "label": "EEG abnormality" + } + }, + { + "type": { + "id": "HP:5200241", + "label": "Recurrent maladaptive behavior" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:0100547", + "label": "Abnormal forebrain morphology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0003808", + "label": "Abnormal muscle tone" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610042", + "label": "Pitt-Hopkins like syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:57:51.701461Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pitt_Hopkins_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pitt_Hopkins_syndrome_patient_1.json new file mode 100644 index 000000000..c1a9a1ed4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pitt_Hopkins_syndrome_patient_1.json @@ -0,0 +1,164 @@ +{ + "id": "pitt-hopkins_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P10Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000483", + "label": "Astigmatism" + } + }, + { + "type": { + "id": "HP:0000339", + "label": "Pugilistic facies" + } + }, + { + "type": { + "id": "HP:0000322", + "label": "Short philtrum" + } + }, + { + "type": { + "id": "HP:0001167", + "label": "Abnormal finger morphology" + } + }, + { + "type": { + "id": "HP:0000490", + "label": "Deeply set eye" + } + }, + { + "type": { + "id": "HP:0040022", + "label": "Clinodactyly of the 2nd finger" + } + }, + { + "type": { + "id": "HP:0002020", + "label": "Gastroesophageal reflux" + } + }, + { + "type": { + "id": "HP:0002311", + "label": "Incoordination" + } + }, + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0000454", + "label": "Flared nostrils" + } + }, + { + "type": { + "id": "HP:0031951", + "label": "Nocturnal seizures" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + }, + { + "type": { + "id": "HP:0004485", + "label": "Cessation of head growth" + } + }, + { + "type": { + "id": "HP:0007370", + "label": "Aplasia/Hypoplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0000154", + "label": "Wide mouth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610954", + "label": "Pitt-Hopkins syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:48:06.669014Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_adenoma_2_GH_secreting_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_adenoma_2_GH_secreting_patient_1.json new file mode 100644 index 000000000..55f0e24e6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_adenoma_2_GH_secreting_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "pituitary_adenoma_2,_gh-secreting", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P75Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000845", + "label": "Elevated circulating growth hormone concentration" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300943", + "label": "Pituitary adenoma 2, GH-secreting" + } + } + ], + "metaData": { + "created": "2024-06-11T23:22:46.272947Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_adenoma_4_ACTH_secreting_somatic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_adenoma_4_ACTH_secreting_somatic_patient_1.json new file mode 100644 index 000000000..412cafce1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_adenoma_4_ACTH_secreting_somatic_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "pituitary_adenoma_4,_acth-secreting,_somatic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:0040161", + "label": "Localized osteoporosis" + } + }, + { + "type": { + "id": "HP:0001058", + "label": "Poor wound healing" + } + }, + { + "type": { + "id": "HP:0004924", + "label": "Abnormal oral glucose tolerance" + } + }, + { + "type": { + "id": "HP:0011276", + "label": "Vascular skin abnormality" + } + }, + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0025499", + "label": "Class I obesity" + } + }, + { + "type": { + "id": "HP:5200241", + "label": "Recurrent maladaptive behavior" + } + }, + { + "type": { + "id": "HP:0000876", + "label": "Oligomenorrhea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:219090", + "label": "Pituitary adenoma 4, ACTH-secreting, somatic" + } + } + ], + "metaData": { + "created": "2024-06-11T22:26:36.179411Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_adenoma_5_multiple_types_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_adenoma_5_multiple_types_patient_1.json new file mode 100644 index 000000000..13899eed0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_adenoma_5_multiple_types_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pituitary_adenoma_5,_multiple_types", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002893", + "label": "Pituitary adenoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617540", + "label": "Pituitary adenoma 5, multiple types" + } + } + ], + "metaData": { + "created": "2024-06-11T18:17:24.764695Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_adenoma_growth_hormone_secreting_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_adenoma_growth_hormone_secreting_1_patient_1.json new file mode 100644 index 000000000..fb45ad796 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_adenoma_growth_hormone_secreting_1_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "pituitary_adenoma,_growth_hormone-secreting,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000845", + "label": "Elevated circulating growth hormone 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"id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_dwarfism_IV_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_dwarfism_IV_patient_1.json new file mode 100644 index 000000000..a9de037bd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_dwarfism_IV_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pituitary_dwarfism_iv", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002750", + "label": "Delayed skeletal maturation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:262650", + "label": "Pituitary dwarfism IV" + } + } + ], + "metaData": { + "created": "2024-06-11T23:23:22.860488Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_dwarfism_with_large_sella_turcica_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_dwarfism_with_large_sella_turcica_patient_1.json new file mode 100644 index 000000000..0c1818f19 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_dwarfism_with_large_sella_turcica_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pituitary_dwarfism_with_large_sella_turcica", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000824", + "label": "Decreased response to growth hormone stimulation test" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:262710", + "label": "Pituitary dwarfism with large sella turcica" + } + } + ], + "metaData": { + "created": "2024-06-11T18:11:18.482892Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_hormone_deficiency_combined_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_hormone_deficiency_combined_1_patient_1.json new file mode 100644 index 000000000..20833249c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_hormone_deficiency_combined_1_patient_1.json @@ -0,0 +1,153 @@ +{ + "id": "pituitary_hormone_deficiency,_combined,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008202", + "label": "Reduced circulating prolactin concentration" + } + }, + { + "type": { + "id": "HP:0000821", + "label": "Hypothyroidism" + } + }, + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0033078", + "label": "Decreased circulating free T4 concentration" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000270", + "label": "Delayed cranial suture closure" + } + }, + { + "type": { + "id": "HP:0031079", + "label": "Impaired growth-hormone response to insulin stimulation test" + } + }, + { + "type": { + "id": "HP:0200028", + "label": "Pretibial myxedema" + } + }, + { + "type": { + "id": "HP:0001609", + "label": "Hoarse voice" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0033082", + "label": "Reduced TSH response to thyrotrophin-releasing hormone stimulation test" + } + }, + { + "type": { + "id": "HP:0003117", + "label": "Abnormal circulating hormone concentration" + } + }, + { + "type": { + "id": "HP:0003117", + "label": "Abnormal circulating hormone concentration" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0000490", + "label": "Deeply set eye" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613038", + "label": "Pituitary hormone deficiency, combined, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:26:10.687299Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_hormone_deficiency_combined_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_hormone_deficiency_combined_6_patient_1.json new file mode 100644 index 000000000..e9ae88a56 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_hormone_deficiency_combined_6_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "pituitary_hormone_deficiency,_combined,_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002904", + "label": "Hyperbilirubinemia" + } + }, + { + "type": { + "id": "HP:0001943", + "label": "Hypoglycemia" + } + }, + { + "type": { + "id": "HP:0011755", + "label": "Ectopic posterior pituitary" + } + }, + { + "type": { + "id": "HP:0000839", + "label": "Pituitary dwarfism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613986", + "label": "Pituitary hormone deficiency, combined, 6" + } + } + ], + "metaData": { + "created": "2024-06-11T22:26:11.569802Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_hormone_deficiency_combined_or_isolated_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_hormone_deficiency_combined_or_isolated_7_patient_1.json new file mode 100644 index 000000000..437472049 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_hormone_deficiency_combined_or_isolated_7_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "pituitary_hormone_deficiency,_combined_or_isolated,_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002750", + "label": "Delayed skeletal maturation" + } + }, + { + "type": { + "id": "HP:0033579", + "label": "Decreased growth hormone responses to growth hormone-releasing hormone challenge" + } + }, + { + "type": { + "id": "HP:0000253", + "label": "Progressive microcephaly" + } + }, + { + "type": { + "id": "HP:0001530", + "label": "Mild postnatal growth retardation" + } + }, + { + "type": { + "id": "HP:0010625", + "label": "Anterior pituitary dysgenesis" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618160", + "label": "Pituitary hormone deficiency, combined or isolated, 7" + } + } + ], + "metaData": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pituitary_hormone_deficiency_combined_or_isolated_8_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "pituitary_hormone_deficiency,_combined_or_isolated,_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031098", + "label": "Decreased thyroid-stimulating hormone level" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0034978", + "label": "Interrupted pituitary stalk" + } + }, + { + "type": { + "id": "HP:0030353", + "label": "Decreased serum insulin-like growth factor 1" + } + }, + { + "type": { + "id": "HP:0034323", + "label": "Reduced circulating growth hormone concentration" + } + }, + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0003117", + "label": "Abnormal circulating hormone concentration" + } + }, + { + "type": { + "id": "HP:0010625", + "label": "Anterior pituitary 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new file mode 100644 index 000000000..d11f186fb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pityriasis_rubra_pilaris_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "pityriasis_rubra_pilaris", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000982", + "label": "Palmoplantar keratoderma" + } + }, + { + "type": { + "id": "HP:0008392", + "label": "Subungual hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0025114", + "label": "Hypergranulosis" + } + }, + { + "type": { + "id": "HP:0032152", + "label": "Keratosis pilaris" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:173200", + "label": "Pityriasis rubra pilaris" + } + } + ], + "metaData": { + "created": "2024-06-11T20:00:42.692233Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Plasmin_inhibitor_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "plasmin_inhibitor_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000978", + "label": "Bruising susceptibility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:262850", + "label": "Plasmin inhibitor deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:03.311101Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Plasminogen_activator_inhibitor_1_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Plasminogen_activator_inhibitor_1_deficiency_patient_1.json new file mode 100644 index 000000000..1dde39e15 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Plasminogen_activator_inhibitor_1_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "plasminogen_activator_inhibitor-1_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000132", + "label": "Menorrhagia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613329", + "label": "Plasminogen activator inhibitor-1 deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T23:03:01.884178Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"id": "HP:0000123", + "label": "Nephritis" + } + }, + { + "type": { + "id": "HP:0040228", + "label": "Decreased level of plasminogen" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0000704", + "label": "Periodontitis" + } + }, + { + "type": { + "id": "HP:0000230", + "label": "Gingivitis" + } + }, + { + "type": { + "id": "HP:0030035", + "label": "Struvite nephrolithiasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:217090", + "label": "Plasminogen deficiency, type I" + } + } + ], + "metaData": { + "created": "2024-06-11T21:12:50.284573Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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"Platelet-Activating factor acetylhydrolase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-12T00:31:53.308817Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Platelet_disorder_familial_with_associated_myeloid_malignancy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Platelet_disorder_familial_with_associated_myeloid_malignancy_patient_1.json new file mode 100644 index 000000000..9c5fdd1be --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Platelet_disorder_familial_with_associated_myeloid_malignancy_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "platelet_disorder,_familial,_with_associated_myeloid_malignancy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012529", + "label": "Abnormal dense granule content" + } + }, + { + "type": { + "id": "HP:0004845", + "label": "Acute monocytic leukemia" + } + }, + { + "type": { + "id": "HP:0003010", + "label": "Prolonged bleeding time" + } + }, + { + "type": { + "id": "HP:0031364", + "label": "Ecchymosis" + } + }, + { + "type": { + "id": "HP:0012148", + "label": "Multiple lineage myelodysplasia" + } + }, + { + "type": { + "id": "HP:0004809", + "label": "Neonatal alloimmune thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0011870", + "label": "Impaired arachidonic acid-induced platelet aggregation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601399", + "label": "Platelet disorder, familial, with associated myeloid malignancy" + } + } + ], + "metaData": { + "created": "2024-06-11T22:27:46.689335Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Platelet_disorder_undefined_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Platelet_disorder_undefined_patient_1.json new file mode 100644 index 000000000..661757777 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Platelet_disorder_undefined_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "platelet_disorder,_undefined", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003540", + "label": "Impaired platelet aggregation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:173420", + "label": "Platelet disorder, undefined" + } + } + ], + "metaData": { + "created": "2024-06-11T22:18:59.274723Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Platelet_factor_3_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Platelet_factor_3_deficiency_patient_1.json new file mode 100644 index 000000000..64620a71d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Platelet_factor_3_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "platelet_factor_3_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:173450", + "label": "Platelet factor 3 deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T23:28:18.163295Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Platelet_glycoprotein_IV_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Platelet_glycoprotein_IV_deficiency_patient_1.json new file mode 100644 index 000000000..cc3a6e7b2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Platelet_glycoprotein_IV_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "platelet_glycoprotein_iv_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001902", + "label": "Giant platelets" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608404", + "label": "Platelet glycoprotein IV deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T20:54:14.845798Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Platelet_prostacyclin_receptor_defect_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Platelet_prostacyclin_receptor_defect_patient_1.json new file mode 100644 index 000000000..ae44553e4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Platelet_prostacyclin_receptor_defect_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "platelet_prostacyclin_receptor_defect", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001939", + "label": "Abnormality of metabolism/homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:262875", + "label": "Platelet prostacyclin receptor defect" + } + } + ], + "metaData": { + "created": "2024-06-11T22:49:56.385221Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Platelet_signal_processing_defect_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Platelet_signal_processing_defect_patient_1.json new file mode 100644 index 000000000..8d558ba98 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Platelet_signal_processing_defect_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "platelet_signal_processing_defect", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0008320", + "label": "Impaired collagen-induced platelet aggregation" + } + }, + { + "type": { + "id": "HP:0011869", + "label": "Abnormal platelet function" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:173590", + "label": "Platelet signal processing defect" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:36.408804Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Platyspondylic_lethal_skeletal_dysplasia_Torrance_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Platyspondylic_lethal_skeletal_dysplasia_Torrance_type_patient_1.json new file mode 100644 index 000000000..850d2ab67 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Platyspondylic_lethal_skeletal_dysplasia_Torrance_type_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "platyspondylic_lethal_skeletal_dysplasia,_torrance_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001538", + "label": "Protuberant abdomen" + } + }, + { + "type": { + "id": "HP:0002983", + "label": "Micromelia" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0200083", + "label": "Severe limb shortening" + } + }, + { + "type": { + "id": "HP:0030863", + "label": "Nasal flaring" + } + }, + { + "type": { + "id": "HP:0030728", + "label": "Meromelia" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + }, + { + "type": { + "id": "HP:0002986", + "label": "Radial bowing" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0010743", + "label": "Short metatarsal" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0003312", + "label": "Abnormal form of the vertebral bodies" + } + }, + { + "type": { + "id": "HP:0002867", + "label": "Abnormal ilium morphology" + } + }, + { + "type": { + "id": "HP:0003423", + "label": "Thoracolumbar kyphoscoliosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:151210", + "label": "Platyspondylic lethal skeletal dysplasia, Torrance type" + } + } + ], + "metaData": { + "created": "2024-06-11T19:04:52.560745Z", + "createdBy": 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"id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002885", + "label": "Medulloblastoma" + } + }, + { + "type": { + "id": "HP:0100528", + "label": "Pleuropulmonary blastoma" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601200", + "label": "Pleuropulmonary blastoma" + } + } + ], + "metaData": { + "created": "2024-06-11T21:28:19.817195Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pneumothorax_primary_spontaneous_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pneumothorax_primary_spontaneous_patient_1.json new file mode 100644 index 000000000..9f8e6b05f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pneumothorax_primary_spontaneous_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pneumothorax,_primary_spontaneous", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002108", + "label": "Spontaneous pneumothorax" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:173600", + "label": "Pneumothorax, primary spontaneous" + } + } + ], + "metaData": { + "created": "2024-06-11T20:21:01.739183Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Poikiloderma_hereditary_fibrosing_with_tendon_contractures_myopathy_and_pulmonary_fibrosis_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "poikiloderma,_hereditary_fibrosing,_with_tendon_contractures,_myopathy,_and_pulmonary_fibrosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002522", + "label": "Areflexia of lower limbs" + } + }, + { + "type": { + "id": "HP:0045075", + "label": "Sparse eyebrow" + } + }, + { + "type": { + "id": "HP:0000823", + "label": "Delayed puberty" + } + }, + { + "type": { + "id": "HP:0034392", + "label": "Joint contracture" + } + }, + { + "type": { + "id": "HP:0007480", + "label": "Decreased sweating due to autonomic dysfunction" + } + }, + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" + } + }, + { + "type": { + "id": "HP:0008180", + "label": "Mildly elevated creatine kinase" + } + }, + { + "type": { + "id": "HP:0550005", + "label": "Bilateral basilar pulmonary fibrosis" + } + }, + { + "type": { + "id": "HP:0040050", + "label": "Sparse upper eyelashes" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615704", + "label": "Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis" + } + } + ], + "metaData": { + "created": "2024-06-11T21:45:04.253481Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Poikiloderma_hereditary_sclerosing_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Poikiloderma_hereditary_sclerosing_patient_1.json new file mode 100644 index 000000000..cfacd5df5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Poikiloderma_hereditary_sclerosing_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "poikiloderma,_hereditary_sclerosing", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007618", + "label": "Subcutaneous calcification" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:173700", + "label": "Poikiloderma, hereditary sclerosing" + } + } + ], + "metaData": { + "created": "2024-06-11T19:05:56.283438Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Poikiloderma_with_neutropenia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Poikiloderma_with_neutropenia_patient_1.json new file mode 100644 index 000000000..e2f119896 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Poikiloderma_with_neutropenia_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "poikiloderma_with_neutropenia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0000430", + "label": "Underdeveloped nasal alae" + } + }, + { + "type": { + "id": "HP:0001744", + "label": "Splenomegaly" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0000988", + "label": "Skin rash" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0000498", + "label": "Blepharitis" + } + }, + { + "type": { + "id": "HP:0001882", + "label": "Leukopenia" + } + }, + { + "type": { + "id": "HP:0006532", + "label": "Recurrent pneumonia" + } + }, + { + "type": { + "id": "HP:0000972", + "label": "Palmoplantar hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0012252", + "label": "Abnormal respiratory system morphology" + } + }, + { + "type": { + "id": "HP:0000670", + "label": "Carious teeth" + } + }, + { + "type": { + "id": "HP:0007556", + "label": "Plantar hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0001376", + "label": "Limitation of joint mobility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604173", + "label": "Poikiloderma with neutropenia" + } + } + ], + "metaData": { + "created": "2024-06-11T19:48:40.560085Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Poirier_Bienvenu_neurodevelopmental_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Poirier_Bienvenu_neurodevelopmental_syndrome_patient_1.json new file mode 100644 index 000000000..9d8a53e73 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Poirier_Bienvenu_neurodevelopmental_syndrome_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "poirier-bienvenu_neurodevelopmental_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P4Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002714", + "label": "Downturned corners of mouth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618732", + "label": "Poirier-Bienvenu neurodevelopmental syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:32.504863Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Poland_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Poland_syndrome_patient_1.json new file mode 100644 index 000000000..d47a51ace --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Poland_syndrome_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "poland_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009011", + "label": "Hypoplasia of serratus anterior muscle" + } + }, + { + "type": { + "id": "HP:0006657", + "label": "Hypoplasia of first ribs" + } + }, + { + "type": { + "id": "HP:0006008", + "label": "Unilateral brachydactyly" + } + }, + { + "type": { + "id": "HP:0010711", + "label": "1-2 toe syndactyly" + } + }, + { + "type": { + "id": "HP:0009026", + "label": "Hypoplasia of latissimus dorsi muscle" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:173800", + "label": "Poland syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:05:54.273800Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidney_disease_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidney_disease_2_patient_1.json new file mode 100644 index 000000000..de3583ba1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidney_disease_2_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "polycystic_kidney_disease_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000952", + "label": "Jaundice" + } + }, + { + "type": { + "id": "HP:0006254", + "label": "Elevated circulating alpha-fetoprotein concentration" + } + }, + { + "type": { + "id": "HP:0000083", + "label": "Renal insufficiency" + } + }, + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0003259", + "label": "Elevated circulating creatinine concentration" + } + }, + { + "type": { + "id": "HP:0030948", + "label": "Elevated gamma-glutamyltransferase level" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0003111", + "label": "Abnormal blood ion concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613095", + "label": "Polycystic kidney disease 2" + } + } + ], + "metaData": { + "created": "2024-06-11T17:56:16.982719Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidney_disease_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidney_disease_3_patient_1.json new file mode 100644 index 000000000..765fe9a37 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidney_disease_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "polycystic_kidney_disease_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000113", + "label": "Polycystic kidney dysplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600666", + "label": "Polycystic kidney disease 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:22:54.976611Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidney_disease_4_with_or_without_polycystic_liver_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidney_disease_4_with_or_without_polycystic_liver_disease_patient_1.json new file mode 100644 index 000000000..fde966175 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidney_disease_4_with_or_without_polycystic_liver_disease_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "polycystic_kidney_disease_4_with_or_without_polycystic_liver_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000822", + "label": "Hypertension" + } + }, + { + "type": { + "id": "HP:0005576", + "label": "Tubulointerstitial fibrosis" + } + }, + { + "type": { + "id": "HP:0005564", + "label": "Absence of renal corticomedullary differentiation" + } + }, + { + "type": { + "id": "HP:0000105", + "label": "Enlarged kidney" + } + }, + { + "type": { + "id": "HP:0001737", + "label": "Pancreatic cysts" + } + }, + { + "type": { + "id": "HP:0002009", + "label": "Potter facies" + } + }, + { + "type": { + "id": "HP:0000083", + "label": "Renal insufficiency" + } + }, + { + "type": { + "id": "HP:0000113", + "label": "Polycystic kidney dysplasia" + } + }, + { + "type": { + "id": "HP:0004719", + "label": "Hyperechogenic kidneys" + } + }, + { + "type": { + "id": "HP:0002248", + "label": "Hematemesis" + } + }, + { + "type": { + "id": "HP:0002089", + "label": "Pulmonary hypoplasia" + } + }, + { + "type": { + "id": "HP:0001562", + "label": "Oligohydramnios" + } + }, + { + "type": { + "id": "HP:0410042", + "label": "Abnormal liver morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:263200", + "label": "Polycystic kidney disease 4 with or without polycystic liver disease" + } + } + ], + "metaData": { + "created": "2024-06-11T23:22:58.043497Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidney_disease_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidney_disease_5_patient_1.json new file mode 100644 index 000000000..066f5b1c4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidney_disease_5_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "polycystic_kidney_disease_5", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P19Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000822", + "label": "Hypertension" + } + }, + { + "type": { + "id": "HP:0000105", + "label": "Enlarged kidney" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617610", + "label": "Polycystic kidney disease 5" + } + } + ], + "metaData": { + "created": "2024-06-12T02:21:18.625995Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidney_disease_6_with_or_without_polycystic_liver_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidney_disease_6_with_or_without_polycystic_liver_disease_patient_1.json new file mode 100644 index 000000000..d5dc8cce5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidney_disease_6_with_or_without_polycystic_liver_disease_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "polycystic_kidney_disease_6_with_or_without_polycystic_liver_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001407", + "label": "Hepatic cysts" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0003574", + "label": "Positive regitine blocking test" + } + }, + { + "type": { + "id": "HP:0012622", + "label": "Chronic kidney disease" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618061", + "label": "Polycystic kidney disease 6 with or without polycystic liver disease" + } + } + ], + "metaData": { + "created": "2024-06-11T18:10:03.894260Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidney_disease_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidney_disease_7_patient_1.json new file mode 100644 index 000000000..eec70d27f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidney_disease_7_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "polycystic_kidney_disease_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620056", + "label": "Polycystic kidney disease 7" + } + } + ], + "metaData": { + "created": "2024-06-12T00:31:12.044936Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidney_disease_infantile_severe_with_tuberous_sclerosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidney_disease_infantile_severe_with_tuberous_sclerosis_patient_1.json new file mode 100644 index 000000000..93a688d33 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidney_disease_infantile_severe_with_tuberous_sclerosis_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "polycystic_kidney_disease,_infantile_severe,_with_tuberous_sclerosis", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000113", + "label": "Polycystic kidney dysplasia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600273", + "label": "Polycystic kidney disease, infantile severe, with tuberous sclerosis" + } + } + ], + "metaData": { + "created": "2024-06-11T20:47:45.330737Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidneys_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidneys_patient_1.json new file mode 100644 index 000000000..40042d4d9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_kidneys_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "polycystic_kidneys", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001634", + "label": "Mitral valve prolapse" + } + }, + { + "type": { + "id": "HP:0000113", + "label": "Polycystic kidney dysplasia" + } + }, + { + "type": { + "id": "HP:0012211", + "label": "Abnormal renal physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:173900", + "label": "Polycystic kidneys" + } + } + ], + "metaData": { + "created": "2024-06-11T23:13:24.173564Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy_2_patient_1.json new file mode 100644 index 000000000..f11d8bd74 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy_2_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002476", + "label": "Primitive reflex" + } + }, + { + "type": { + "id": "HP:0002977", + "label": "Aplasia/Hypoplasia involving the central nervous system" + } + }, + { + "type": { + "id": "HP:0030784", + "label": "Anomic aphasia" + } + }, + { + "type": { + "id": "HP:0012447", + "label": "Abnormal myelination" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0030222", + "label": "Visual agnosia" + } + }, + { + "type": { + "id": "HP:0002135", + "label": "Basal ganglia calcification" + } + }, + { + "type": { + "id": "HP:0020207", + "label": "Reflex seizure" + } + }, + { + "type": { + "id": "HP:0006859", + "label": "Posterior leukoencephalopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618193", + "label": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:30:00.750962Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy_patient_1.json new file mode 100644 index 000000000..1cfefc9fe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy_patient_1.json @@ -0,0 +1,164 @@ +{ + "id": "polycystic_lipomembranous_osteodysplasia_with_sclerosing_leukoencephalopathy", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P35Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002135", + "label": "Basal ganglia calcification" + } + }, + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0003447", + "label": "Axonal loss" + } + }, + { + "type": { + "id": "HP:0002756", + "label": "Pathologic fracture" + } + }, + { + "type": { + "id": "HP:0002549", + "label": "Deficit in phonologic short-term memory" + } + }, + { + "type": { + "id": "HP:0002167", + "label": "Abnormality of speech or vocalization" + } + }, + { + "type": { + "id": "HP:0000751", + "label": "Personality changes" + } + }, + { + "type": { + "id": "HP:0001273", + "label": "Abnormal corpus callosum morphology" + } + }, + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011462", + "label": "Young adult onset" + } + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:5200129", + "label": "Abnormal rituals" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0002372", + "label": "Normal interictal EEG" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0001155", + "label": "Abnormality of the hand" + } + }, + { + "type": { + "id": "HP:5200412", + "label": "Allesthesia" + } + }, + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:221770", + "label": "Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy" + } + } + ], + "metaData": { + "created": "2024-06-11T18:38:20.782334Z", + "createdBy": "phenotype2phenopacket", 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+1,63 @@ +{ + "id": "polycystic_liver_disease_1_with_or_without_kidney_cysts", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003418", + "label": "Back pain" + } + }, + { + "type": { + "id": "HP:0001541", + "label": "Ascites" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0006557", + "label": "Polycystic liver disease" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:174050", + "label": "Polycystic liver disease 1 with or without kidney cysts" + } + } + ], + "metaData": { + "created": "2024-06-11T18:40:15.559233Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_liver_disease_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_liver_disease_2_patient_1.json new file mode 100644 index 000000000..43b0056ce --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_liver_disease_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "polycystic_liver_disease_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617004", + "label": "Polycystic liver disease 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:22:34.259949Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_liver_disease_3_with_or_without_kidney_cysts_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_liver_disease_3_with_or_without_kidney_cysts_patient_1.json new file mode 100644 index 000000000..7bc9d2eab --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_liver_disease_3_with_or_without_kidney_cysts_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "polycystic_liver_disease_3_with_or_without_kidney_cysts", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001407", + "label": "Hepatic cysts" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617874", + "label": "Polycystic liver disease 3 with or without kidney cysts" + } + } + ], + "metaData": { + "created": "2024-06-11T20:45:04.123070Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_liver_disease_4_with_or_without_kidney_cysts_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_liver_disease_4_with_or_without_kidney_cysts_patient_1.json new file mode 100644 index 000000000..a44e4919f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycystic_liver_disease_4_with_or_without_kidney_cysts_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "polycystic_liver_disease_4_with_or_without_kidney_cysts", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P33Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000107", + "label": "Renal cyst" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617875", + "label": "Polycystic liver disease 4 with or without kidney cysts" + } + } + ], + "metaData": { + 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+1,57 @@ +{ + "id": "polycystic_ovary_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008915", + "label": "Childhood-onset truncal obesity" + } + }, + { + "type": { + "id": "HP:0002230", + "label": "Generalized hirsutism" + } + }, + { + "type": { + "id": "HP:0000876", + "label": "Oligomenorrhea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:184700", + "label": "Polycystic ovary syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:44:26.110706Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycythemia_vera_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycythemia_vera_patient_1.json new file mode 100644 index 000000000..26be0442e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polycythemia_vera_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "polycythemia_vera", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001898", + "label": "Increased red blood cell mass" + } + }, + { + "type": { + "id": "HP:0001900", + "label": "Increased circulating hemoglobin concentration" + } + }, + { + "type": { + "id": "HP:0001899", + "label": "Increased hematocrit" + } + }, + { + "type": { + "id": "HP:0001977", + "label": "Abnormal thrombosis" + } + }, + { + "type": { + "id": "HP:0006268", + "label": "Fluctuating splenomegaly" + } + }, + { + "type": { + "id": "HP:0005404", + "label": "Increased B cell count" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:263300", + "label": "Polycythemia vera" + } + } + ], + "metaData": { + "created": "2024-06-11T21:22:04.236414Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_postaxial_type_A10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_postaxial_type_A10_patient_1.json new file mode 100644 index 000000000..8e8fd94e4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_postaxial_type_A10_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "polydactyly,_postaxial,_type_a10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001162", + "label": "Postaxial hand polydactyly" + } + }, + { + "type": { + "id": "HP:0005817", + "label": "Postaxial polysyndactyly of foot" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618498", + "label": "Polydactyly, postaxial, type A10" + } + } + ], + "metaData": { + "created": "2024-06-11T17:59:49.465753Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_postaxial_type_A5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "polydactyly,_postaxial,_type_a5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009701", + "label": "Metacarpal synostosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:263450", + "label": "Polydactyly, postaxial, type A5" + } + } + ], + "metaData": { + "created": "2024-06-11T20:09:00.142475Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_postaxial_type_A6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_postaxial_type_A6_patient_1.json new file mode 100644 index 000000000..65ad31080 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_postaxial_type_A6_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "polydactyly,_postaxial,_type_a6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001167", + "label": "Abnormal finger morphology" + } + }, + { + "type": { + "id": "HP:0001829", + "label": "Foot polydactyly" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615226", + "label": "Polydactyly, postaxial, type A6" + } + } + ], + "metaData": { + "created": "2024-06-11T18:32:50.128389Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_postaxial_type_A7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_postaxial_type_A7_patient_1.json new file mode 100644 index 000000000..c2a623f0c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_postaxial_type_A7_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "polydactyly,_postaxial,_type_a7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001830", + "label": "Postaxial foot polydactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617642", + "label": "Polydactyly, postaxial, type A7" + } + } + ], + "metaData": { + "created": "2024-06-11T19:26:48.606622Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_postaxial_type_A8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_postaxial_type_A8_patient_1.json new file mode 100644 index 000000000..323a6f365 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_postaxial_type_A8_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "polydactyly,_postaxial,_type_a8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100259", + "label": "Postaxial polydactyly" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618123", + "label": "Polydactyly, postaxial, type A8" + } + } + ], + "metaData": { + "created": "2024-06-11T22:52:11.643615Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_postaxial_type_A9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_postaxial_type_A9_patient_1.json new file mode 100644 index 000000000..2a57df88c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_postaxial_type_A9_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "polydactyly,_postaxial,_type_a9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001162", + "label": "Postaxial hand polydactyly" + } + 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100644 index 000000000..541551d08 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_postaxial_types_A1_and_B_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "polydactyly,_postaxial,_types_a1_and_b", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011304", + "label": "Broad thumb" + } + }, + { + "type": { + "id": "HP:0001830", + "label": "Postaxial foot polydactyly" + } + }, + { + "type": { + "id": "HP:0011297", + "label": "Abnormal digit morphology" + } + }, + { + "type": { + "id": "HP:0001780", + "label": "Abnormal toe morphology" + } + }, + { + "type": { + "id": "HP:0100259", + "label": "Postaxial polydactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:174200", + "label": "Polydactyly, postaxial, types A1 and B" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:09.360597Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001162", + "label": "Postaxial hand polydactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:174310", + "label": "Polydactyly, postaxial, with progressive myopia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:57:15.467245Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_preaxial_III_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_preaxial_III_patient_1.json new file mode 100644 index 000000000..27fcc183f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_preaxial_III_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "polydactyly,_preaxial_iii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100258", + "label": "Preaxial polydactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:174600", + "label": "Polydactyly, preaxial III" + } + } + ], + "metaData": { + "created": "2024-06-11T21:56:18.476202Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_preaxial_II_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_preaxial_II_patient_1.json new file mode 100644 index 000000000..4fbd21a04 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_preaxial_II_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "polydactyly,_preaxial_ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009612", + "label": "Duplication of the distal phalanx of the thumb" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0010096", + "label": "Complete duplication of the distal phalanx of the hallux" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:174500", + "label": "Polydactyly, preaxial II" + } + } + ], + "metaData": { + "created": "2024-06-11T23:43:28.356268Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_preaxial_IV_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_preaxial_IV_patient_1.json new file mode 100644 index 000000000..c4d675ec4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_preaxial_IV_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "polydactyly,_preaxial_iv", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005688", + "label": "Dysplastic distal thumb phalanges with a central hole" + } + }, + { + "type": { + "id": "HP:0010713", + "label": "1-5 toe syndactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:174700", + "label": "Polydactyly, preaxial IV" + } + } + ], + "metaData": { + "created": "2024-06-12T00:50:33.850235Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_preaxial_I_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_preaxial_I_patient_1.json new file mode 100644 index 000000000..dbe579330 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polydactyly_preaxial_I_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "polydactyly,_preaxial_i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005895", + "label": "Radial deviation of thumb terminal phalanx" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:174400", + "label": "Polydactyly, preaxial I" + } + } + ], + "metaData": { + "created": "2024-06-11T22:38:26.461478Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polyendocrine_polyneuropathy_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polyendocrine_polyneuropathy_syndrome_patient_1.json new file mode 100644 index 000000000..79cb65166 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polyendocrine_polyneuropathy_syndrome_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "polyendocrine-polyneuropathy_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040217", + "label": "Elevated hemoglobin A1c" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0008376", + "label": "Nasal dysarthria" + } + }, + { + "type": { + "id": "HP:0100651", + "label": "Type I diabetes mellitus" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616113", + "label": "Polyendocrine-polyneuropathy syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T17:53:33.024673Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polyglucosan_body_myopathy_1_with_or_without_immunodeficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polyglucosan_body_myopathy_1_with_or_without_immunodeficiency_patient_1.json new file mode 100644 index 000000000..bf429972c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polyglucosan_body_myopathy_1_with_or_without_immunodeficiency_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "polyglucosan_body_myopathy_1_with_or_without_immunodeficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0012647", + "label": "Abnormal inflammatory response" + } + }, + { + "type": { + "id": "HP:0002733", + "label": "Abnormal lymph node morphology" + } + }, + { + "type": { + "id": "HP:0002733", + "label": "Abnormal lymph node morphology" + } + }, + { + "type": { + "id": "HP:0025033", + "label": "Abnormal digestive system morphology" + } + }, + { + "type": { + "id": "HP:0001722", + "label": "High-output congestive heart failure" + } + }, + { + "type": { + "id": "HP:0008360", + "label": "Neonatal hypoproteinemia" + } + }, + { + "type": { + "id": "HP:0004910", + "label": "Bicarbonate-wasting renal tubular acidosis" + } + }, + { + "type": { + "id": "HP:0006268", + "label": "Fluctuating splenomegaly" + } + }, + { + "type": { + "id": "HP:0009073", + "label": "Progressive proximal muscle weakness" + } + }, + { + "type": { + "id": "HP:0003391", + "label": "Gowers sign" + } + }, + { + "type": { + "id": "HP:0032101", + "label": "Unusual infection" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615895", + "label": "Polyglucosan body myopathy 1 with or without immunodeficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T21:34:20.030067Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polyglucosan_body_myopathy_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polyglucosan_body_myopathy_2_patient_1.json new file mode 100644 index 000000000..4712d473e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polyglucosan_body_myopathy_2_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "polyglucosan_body_myopathy_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100299", + "label": "Muscle fiber inclusion bodies" + } + }, + { + "type": { + "id": "HP:0010546", + "label": "Muscle fibrillation" + } + }, + { + "type": { + "id": "HP:0003547", + "label": "Shoulder girdle muscle weakness" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616199", + "label": "Polyglucosan body myopathy 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:00:22.267366Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polyglucosan_body_neuropathy_adult_form_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polyglucosan_body_neuropathy_adult_form_patient_1.json new file mode 100644 index 000000000..c3a44ca80 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polyglucosan_body_neuropathy_adult_form_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "polyglucosan_body_neuropathy,_adult_form", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003401", + "label": "Paresthesia" + } + }, + { + "type": { + "id": "HP:0003477", + "label": "Peripheral axonal neuropathy" + } + }, + { + "type": { + "id": "HP:0002127", + "label": "Abnormal upper motor neuron morphology" + } + }, + { + "type": { + "id": "HP:0000011", + "label": "Neurogenic bladder" + } + }, + { + "type": { + "id": "HP:0000020", + "label": "Urinary incontinence" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:263570", + "label": "Polyglucosan body neuropathy, adult form" + } + } + ], + "metaData": { + "created": "2024-06-11T22:48:20.269999Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polyhydramnios_chronic_idiopathic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polyhydramnios_chronic_idiopathic_patient_1.json new file mode 100644 index 000000000..d4ee08cce --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polyhydramnios_chronic_idiopathic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "polyhydramnios,_chronic_idiopathic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:263610", + "label": "Polyhydramnios, chronic idiopathic" + } + } + ], + "metaData": { + "created": "2024-06-11T23:29:00.672140Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polyhydramnios_megalencephaly_and_symptomatic_epilepsy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polyhydramnios_megalencephaly_and_symptomatic_epilepsy_patient_1.json new file mode 100644 index 000000000..2eabde652 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polyhydramnios_megalencephaly_and_symptomatic_epilepsy_patient_1.json @@ -0,0 +1,165 @@ +{ + "id": "polyhydramnios,_megalencephaly,_and_symptomatic_epilepsy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal defect" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0000215", + "label": "Thick upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0000873", + "label": "Diabetes insipidus" + } + }, + { + "type": { + "id": "HP:0002003", + "label": "Large forehead" + } + }, + { + "type": { + "id": "HP:0001622", + "label": "Premature birth" + } + }, + { + "type": { + "id": "HP:0000154", + "label": "Wide mouth" + } + }, + { + "type": { + "id": "HP:0002355", + "label": "Difficulty walking" + } + }, + { + "type": { + "id": "HP:0001355", + "label": "Megalencephaly" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0002446", + "label": "Astrocytosis" + } + }, + { + "type": { + "id": "HP:0012371", + "label": "Hyperplasia of midface" + } + }, + { + "type": { + "id": "HP:0000178", + "label": "Abnormal lower lip morphology" + } + }, + { + "type": { + "id": "HP:0001533", + "label": "Slender build" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + }, + "modifiers": [ + { + "id": "HP:0031375", + "label": "Refractory" + } + ] + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611087", + "label": "Polyhydramnios, megalencephaly, and symptomatic epilepsy" + } + } + ], + "metaData": { + "created": "2024-06-11T18:28:41.748248Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polymicrogyria_bilateral_frontoparietal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polymicrogyria_bilateral_frontoparietal_patient_1.json new file mode 100644 index 000000000..0925afd19 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polymicrogyria_bilateral_frontoparietal_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "polymicrogyria,_bilateral_frontoparietal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001276", + "label": "Hypertonia" + } + }, + { + "type": { + "id": "HP:0012110", + "label": "Hypoplasia of the pons" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0001310", + "label": "Dysmetria" + } + }, + { + "type": { + "id": "HP:0002136", + "label": "Broad-based gait" + } + }, + { + "type": { + "id": "HP:0001321", + "label": "Cerebellar hypoplasia" + } + } + ], + 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100644 index 000000000..88003dcd3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polymicrogyria_bilateral_perisylvian_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "polymicrogyria,_bilateral_perisylvian", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002463", + "label": "Language impairment" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615752", + "label": "Polymicrogyria, bilateral perisylvian" + } + } + ], + "metaData": { + "created": "2024-06-11T18:27:31.007892Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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seizure" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0010522", + "label": "Dyslexia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300388", + "label": "Polymicrogyria, bilateral perisylvian" + } + } + ], + "metaData": { + "created": "2024-06-11T23:06:07.145772Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polymicrogyria_bilateral_temporooccipital_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polymicrogyria_bilateral_temporooccipital_patient_1.json new file mode 100644 index 000000000..5ffb243b7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polymicrogyria_bilateral_temporooccipital_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "polymicrogyria,_bilateral_temporooccipital", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007334", + "label": "Bilateral tonic-clonic seizure with focal onset" + } + }, + { + "type": { + "id": "HP:0002384", + "label": "Focal impaired awareness seizure" + } + }, + { + "type": { + "id": "HP:0002367", + "label": "Visual hallucination" + } + }, + { + "type": { + "id": "HP:0033258", + "label": "Sudden unexpected death in epilepsy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612691", + "label": 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mode 100644 index 000000000..5217651b4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polymicrogyria_perisylvian_with_cerebellar_hypoplasia_and_arthrogryposis_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "polymicrogyria,_perisylvian,_with_cerebellar_hypoplasia_and_arthrogryposis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000268", + "label": "Dolichocephaly" + } + }, + { + "type": { + "id": "HP:0006380", + "label": "Knee flexion contracture" + } + }, + { + "type": { + "id": "HP:0010945", + "label": "Fetal pyelectasis" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0001320", + "label": "Cerebellar vermis hypoplasia" + } + }, + { + "type": { + "id": "HP:0005656", + "label": "Positional foot deformity" + } + }, + { + "type": { + "id": "HP:0002089", + "label": "Pulmonary hypoplasia" + } + }, + { + "type": { + "id": "HP:0032406", + "label": "Unilateral perisylvian polymicrogyria" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616531", + "label": "Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis" + } + } + ], + "metaData": { + "created": "2024-06-11T23:51:22.930832Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polymicrogyria_with_or_without_vascular_type_EDS_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polymicrogyria_with_or_without_vascular_type_EDS_patient_1.json new file mode 100644 index 000000000..b3963896b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polymicrogyria_with_or_without_vascular_type_EDS_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "polymicrogyria_with_or_without_vascular-type_eds", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010648", + "label": "Dermal translucency" + } + }, + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0002539", + "label": "Cortical dysplasia" + } + }, + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + } + }, + { + "type": { + "id": "HP:0031936", + "label": "Delayed ability to walk" + } + }, + { + "type": { + "id": "HP:0011147", + "label": "Typical absence seizure" + } + }, + { + "type": { + "id": "HP:0002626", + "label": "Venous varicosities of celiac and mesenteric vessels" + } + }, + { + "type": { + "id": "HP:0000540", + "label": "Hypermetropia" + } + }, + { + "type": { + "id": "HP:0005112", + "label": "Abdominal aortic aneurysm" + } + }, + { + "type": { + "id": "HP:0000978", + "label": "Bruising susceptibility" + } + }, + { + "type": { + "id": "HP:0025336", + "label": "Delayed ability to sit" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618343", + "label": "Polymicrogyria with or without vascular-type EDS" + } + } + ], + "metaData": { + "created": "2024-06-11T21:18:23.788327Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polyneuropathy_hearing_loss_ataxia_retinitis_pigmentosa_and_cataract_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "polyneuropathy,_hearing_loss,_ataxia,_retinitis_pigmentosa,_and_cataract", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + }, + { + "type": { + "id": "HP:0001310", + "label": "Dysmetria" + } + }, + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612674", + "label": "Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" + } + } + ], + "metaData": { + "created": "2024-06-11T20:22:17.938100Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polyposis_intestinal_with_multiple_exostoses_patient_1.json new file mode 100644 index 000000000..93a25faff --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polyposis_intestinal_with_multiple_exostoses_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "polyposis,_intestinal,_with_multiple_exostoses", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200008", + "label": "Intestinal polyposis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:175450", + "label": "Polyposis, intestinal, with multiple exostoses" + } + } + ], + "metaData": { + "created": "2024-06-11T21:10:17.627405Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polyposis_skin_pigmentation_alopecia_and_fingernail_changes_patient_1.json new file mode 100644 index 000000000..df704f4a0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polyposis_skin_pigmentation_alopecia_and_fingernail_changes_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "polyposis,_skin_pigmentation,_alopecia,_and_fingernail_changes", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004390", + "label": "Hamartomatous polyposis" + } + }, + { + "type": { + "id": "HP:0002013", + "label": "Vomiting" + } + }, + { + "type": { + "id": "HP:0000217", + "label": "Xerostomia" + } + }, + { + "type": { + "id": "HP:0030809", + "label": "Abnormal tongue morphology" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0001977", + "label": "Abnormal thrombosis" + } + }, + { + "type": { + "id": 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Polysaccharide_storage_of_unusual_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polysaccharide_storage_of_unusual_patient_1.json new file mode 100644 index 000000000..755ba6b59 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Polysaccharide_storage_of_unusual_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "polysaccharide,_storage_of_unusual", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011012", + "label": "Abnormal circulating polysaccharide concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:263600", + "label": "Polysaccharide, storage of unusual" + } + } + ], + "metaData": { + "created": "2024-06-11T23:30:28.896572Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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[ + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0001792", + "label": "Small nail" + } + }, + { + "type": { + "id": "HP:0000107", + "label": "Renal cyst" + } + }, + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:263630", + "label": "Polysyndactyly with cardiac malformation" + } + } + ], + "metaData": { + "created": "2024-06-11T18:09:09.641953Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pontine_tegmental_cap_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pontine_tegmental_cap_dysplasia_patient_1.json new file mode 100644 index 000000000..d523194ac --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pontine_tegmental_cap_dysplasia_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "pontine_tegmental_cap_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001310", + "label": "Dysmetria" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0002835", + "label": "Aspiration" + } + }, + { + "type": { + "id": "HP:0012155", + "label": "Decreased corneal sensation" + } + }, + { + "type": { + "id": "HP:0001252", 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pontocerebellar_hypoplasia_hypotonia_and_respiratory_insufficiency_syndrome_neonatal_lethal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pontocerebellar_hypoplasia_hypotonia_and_respiratory_insufficiency_syndrome_neonatal_lethal_patient_1.json new file mode 100644 index 000000000..c3244be3a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pontocerebellar_hypoplasia_hypotonia_and_respiratory_insufficiency_syndrome_neonatal_lethal_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "pontocerebellar_hypoplasia,_hypotonia,_and_respiratory_insufficiency_syndrome,_neonatal_lethal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003146", + "label": "Hypocholesterolemia" + } + }, + { + "type": { + "id": "HP:0002299", + "label": "Brittle hair" + } + }, + { + "type": { + "id": "HP:0030884", + "label": "Gastrojejunal tube feeding in infancy" + } + }, + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pontocerebellar_hypoplasia_type_13_patient_1.json @@ -0,0 +1,201 @@ +{ + "id": "pontocerebellar_hypoplasia,_type_13", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002540", + "label": "Inability to walk" + } + }, + { + "type": { + "id": "HP:0002066", + "label": "Gait ataxia" + } + }, + { + "type": { + "id": "HP:0000286", + "label": "Epicanthus" + } + }, + { + "type": { + "id": "HP:0002162", + "label": "Low posterior hairline" + } + }, + { + "type": { + "id": "HP:0000396", + "label": "Overfolded helix" + } + }, + { + "type": { + "id": "HP:0001217", + "label": "Clubbing" + } + }, + { + "type": { + "id": "HP:0000527", + "label": "Long eyelashes" + } + }, + { + "type": { + "id": "HP:0002079", + "label": "Hypoplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0002280", + "label": "Enlarged cisterna magna" + } + }, + { + "type": { + "id": "HP:0025517", + "label": 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pontocerebellar_hypoplasia_type_15_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pontocerebellar_hypoplasia_type_15_patient_1.json new file mode 100644 index 000000000..4df694087 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pontocerebellar_hypoplasia_type_15_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "pontocerebellar_hypoplasia,_type_15", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002365", + "label": "Hypoplasia of the brainstem" + } + }, + { + "type": { + "id": "HP:0001274", + "label": "Agenesis of corpus callosum" + } + }, + { + "type": { + "id": "HP:0010862", + "label": "Delayed fine motor development" + } + }, + { + "type": { + "id": "HP:0012434", + "label": "Delayed early-childhood social milestone development" + } + }, + { + "type": { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pontocerebellar_hypoplasia_type_16_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pontocerebellar_hypoplasia_type_16_patient_1.json new file mode 100644 index 000000000..77e6f73c1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pontocerebellar_hypoplasia_type_16_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "pontocerebellar_hypoplasia,_type_16", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0012758", + "label": "Neurodevelopmental delay" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0007979", + "label": "Gaze-evoked horizontal nystagmus" + } + }, + { + "type": { + "id": "HP:0012638", + 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"iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_1_multiple_types_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_1_multiple_types_patient_1.json new file mode 100644 index 000000000..c6837742a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_1_multiple_types_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "porokeratosis_1,_multiple_types", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001036", + "label": "Parakeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:175800", + "label": "Porokeratosis 1, multiple types" + } + } + ], + "metaData": { + "created": "2024-06-11T23:20:29.399898Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_3_multiple_types_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_3_multiple_types_patient_1.json new file mode 100644 index 000000000..73a74b9a9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_3_multiple_types_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "porokeratosis_3,_multiple_types", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001036", + "label": "Parakeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:175900", + "label": "Porokeratosis 3, multiple types" + } + } + ], + "metaData": { + "created": "2024-06-11T21:25:41.589513Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_6_disseminated_superficial_Actinic_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_6_disseminated_superficial_Actinic_type_patient_1.json new file mode 100644 index 000000000..5d609c346 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_6_disseminated_superficial_Actinic_type_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "porokeratosis_6,_disseminated_superficial_actinic_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200044", + "label": "Porokeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612353", + "label": "Porokeratosis 6, disseminated superficial Actinic type" + } + } + ], + "metaData": { + "created": "2024-06-11T23:43:41.669669Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_7_multiple_types_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_7_multiple_types_patient_1.json new file mode 100644 index 000000000..88e8a7290 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_7_multiple_types_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "porokeratosis_7,_multiple_types", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001036", + "label": "Parakeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614714", + "label": "Porokeratosis 7, multiple types" + } + } + ], + "metaData": { + "created": "2024-06-11T19:14:27.699930Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_8_disseminated_superficial_Actinic_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_8_disseminated_superficial_Actinic_type_patient_1.json new file mode 100644 index 000000000..ad5b78a3b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_8_disseminated_superficial_Actinic_type_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "porokeratosis_8,_disseminated_superficial_actinic_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200034", + "label": "Papule" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616063", + "label": "Porokeratosis 8, disseminated superficial Actinic type" + } + } + ], + "metaData": { + "created": "2024-06-11T19:20:54.717743Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_9_multiple_types_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_9_multiple_types_patient_1.json new file mode 100644 index 000000000..4816664d7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_9_multiple_types_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "porokeratosis_9,_multiple_types", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200044", + "label": "Porokeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616631", + "label": "Porokeratosis 9, multiple types" + } + } + ], + "metaData": { + "created": "2024-06-11T22:00:19.476513Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_plantaris_palmaris_et_disseminata_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_plantaris_palmaris_et_disseminata_patient_1.json new file mode 100644 index 000000000..6ac63a629 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_plantaris_palmaris_et_disseminata_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "porokeratosis_plantaris,_palmaris,_et_disseminata", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100870", + "label": "Plantar telangiectasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:175850", + "label": "Porokeratosis plantaris, palmaris, et disseminata" + } + } + ], + "metaData": { + "created": "2024-06-11T20:54:09.836199Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_punctata_palmaris_et_plantaris_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_punctata_palmaris_et_plantaris_patient_1.json new file mode 100644 index 000000000..42b553a1d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porokeratosis_punctata_palmaris_et_plantaris_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "porokeratosis_punctata_palmaris_et_plantaris", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007613", + "label": "Spinous keratoses of palms and soles" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:175860", + "label": "Porokeratosis punctata palmaris et plantaris" + } + } + ], + "metaData": { + "created": "2024-06-11T21:15:52.519980Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Porphyria_acute_hepatic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porphyria_acute_hepatic_patient_1.json new file mode 100644 index 000000000..daafd048e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porphyria_acute_hepatic_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "porphyria,_acute_hepatic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003470", + "label": "Paralysis" + } + }, + { + "type": { + "id": "HP:0002203", + "label": "Respiratory paralysis" + } + }, + { + "type": { + "id": "HP:0033354", + "label": "Abnormal urine metabolite level" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612740", + "label": "Porphyria, acute hepatic" + } + } + ], + "metaData": { + "created": "2024-06-12T02:18:12.243915Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Porphyria_acute_intermittent_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porphyria_acute_intermittent_patient_1.json new file mode 100644 index 000000000..12498aff6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porphyria_acute_intermittent_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "porphyria,_acute_intermittent", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003163", + "label": "Elevated urinary delta-aminolevulinic acid" + } + }, + { + "type": { + "id": "HP:0000716", + "label": "Depression" + } + }, + { + "type": { + "id": "HP:0002027", + "label": "Abdominal pain" + } + }, + { + "type": { + "id": "HP:0001402", + "label": "Hepatocellular carcinoma" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0000020", + "label": "Urinary incontinence" + } + }, + { + "type": { + "id": "HP:0003401", + "label": "Paresthesia" + } + }, + { + "type": { + "id": "HP:0100518", + "label": "Dysuria" + } + }, + { + "type": { + "id": "HP:0000016", + "label": "Urinary retention" + } + }, + { + "type": { + "id": "HP:0002590", + "label": "Paralytic ileus" + } + }, + { + "type": { + "id": "HP:4000199", + "label": "Reduced erythrocyte porphobilinogen deaminase activity" + } + }, + { + "type": { + "id": "HP:0003489", + "label": "Acute episodes of neuropathic symptoms" + } + }, + { + "type": { + "id": "HP:0003470", + "label": "Paralysis" + } + }, + { + "type": { + "id": "HP:0002203", + "label": "Respiratory paralysis" + } + }, + { + "type": { + "id": "HP:0000739", + "label": "Anxiety" + } + }, + { + "type": { + "id": "HP:0000875", + "label": "Episodic hypertension" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:176000", + "label": "Porphyria, acute intermittent" + } + } + ], + "metaData": { + "created": "2024-06-11T22:21:41.076819Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Porphyria_congenital_erythropoietic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porphyria_congenital_erythropoietic_patient_1.json new file mode 100644 index 000000000..83e0df6a3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porphyria_congenital_erythropoietic_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "porphyria,_congenital_erythropoietic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0030756", + "label": "Erythrodontia" + } + }, + { + "type": { + "id": "HP:0033190", + "label": "Hypertrichotic hyperpigmented patch" + } + }, + { + "type": { + "id": "HP:0002953", + "label": "Vertebral compression fracture" + } + }, + { + "type": { + "id": "HP:0040318", + "label": "Red urine" + } + }, + { + "type": { + "id": "HP:0001010", + "label": "Hypopigmentation of the skin" + } + }, + { + "type": { + "id": "HP:0006579", + "label": "Prolonged neonatal jaundice" + } + }, + { + "type": { + "id": "HP:0001438", + "label": "Abnormal abdomen morphology" + } + }, + { + "type": { + "id": "HP:0033009", + "label": "Increased fecal coproporphyrin 1" + } + }, + { + "type": { + "id": "HP:0011873", + "label": "Abnormal platelet count" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:263700", + "label": "Porphyria, congenital erythropoietic" + } + } + ], + "metaData": { + "created": "2024-06-11T22:25:35.083211Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Porphyria_cutanea_tarda_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porphyria_cutanea_tarda_patient_1.json new file mode 100644 index 000000000..3382d64dc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porphyria_cutanea_tarda_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "porphyria_cutanea_tarda", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000992", + "label": "Cutaneous photosensitivity" + } + }, + { + "type": { + "id": "HP:0001394", + "label": "Cirrhosis" + } + }, + { + "type": { + "id": "HP:0010473", + "label": "Porphyrinuria" + } + }, + { + "type": { + "id": "HP:0001030", + "label": "Fragile skin" + } + }, + { + "type": { + "id": "HP:0034715", + "label": "Reduced uroporphyrinogen decarboxylase activity" + } + }, + { + "type": { + "id": "HP:0001402", + "label": "Hepatocellular carcinoma" + } + }, + { + "type": { + "id": "HP:0005586", + "label": "Hyperpigmentation in sun-exposed areas" + } + } + ], + "diseases": [ + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Porphyria_cutanea_tarda_type_I_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "porphyria_cutanea_tarda,_type_i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001030", + "label": "Fragile skin" + } + }, + { + "type": { + "id": "HP:0000953", + "label": "Hyperpigmentation of the skin" + } + }, + { + "type": { + "id": "HP:0010473", + "label": "Porphyrinuria" + } + }, + { + "type": { + "id": "HP:0012852", + "label": "Hepatic bridging fibrosis" + } + }, + { + "type": { + "id": "HP:0011914", + "label": "Thoracic hypertrichosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:176090", + "label": "Porphyria cutanea tarda, type I" + } + } + ], + "metaData": { + "created": "2024-06-11T17:46:43.592369Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Portal_hypertension_noncirrhotic_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Portal_hypertension_noncirrhotic_2_patient_1.json new file mode 100644 index 000000000..b07285659 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Portal_hypertension_noncirrhotic_2_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "portal_hypertension,_noncirrhotic,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0034684", + "label": "Abnormal enzyme concentration or activity" + } + }, + { + "type": { + "id": "HP:0001933", + "label": "Subcutaneous hemorrhage" + } + }, + { + "type": { + "id": "HP:0032263", + "label": "Increased blood pressure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619463", + "label": "Portal hypertension, noncirrhotic, 2" + } + } + ], + "metaData": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Portal_hypertension_noncirrhotic_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "portal_hypertension,_noncirrhotic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001409", + "label": "Portal hypertension" + } + }, + { + "type": { + "id": "HP:0001744", + "label": "Splenomegaly" + } + }, + { + "type": { + "id": "HP:0012718", + "label": "Abnormal gastrointestinal tract morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617068", + "label": "Portal hypertension, noncirrhotic" + } + } + ], + "metaData": { + "created": "2024-06-11T20:55:09.251825Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Postaxial_acrofacial_dysostosis_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "postaxial_acrofacial_dysostosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0000272", + "label": "Malar flattening" + } + }, + { + "type": { + "id": "HP:0000405", + "label": "Conductive hearing impairment" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0002558", + "label": "Supernumerary nipple" + } + }, + { + "type": { + "id": "HP:0000050", + "label": "Hypoplastic male external genitalia" + } + }, + { + "type": { + "id": "HP:0008780", + "label": "Congenital bilateral hip dislocation" + } + }, + { + "type": { + "id": "HP:0000378", + "label": "Cupped ear" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Postaxial_oligodactyly_tetramelic_patient_1.json new file mode 100644 index 000000000..0f6fc18ec --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Postaxial_oligodactyly_tetramelic_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "postaxial_oligodactyly,_tetramelic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006209", + "label": "Partial-complete absence of 5th phalanges" + } + }, + { + "type": { + "id": "HP:0006210", + "label": "Postaxial oligodactyly" + } + }, + { + "type": { + "id": "HP:0000954", + "label": "Single transverse palmar crease" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:176240", + "label": "Postaxial oligodactyly, tetramelic" + } + } + ], + "metaData": { + "created": "2024-06-11T18:57:57.816248Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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}, + { + "type": { + "id": "HP:0003474", + "label": "Somatic sensory dysfunction" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:176250", + "label": "Posterior column ataxia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:06:35.181596Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Potocki_Lupski_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Potocki_Lupski_syndrome_patient_1.json new file mode 100644 index 000000000..a877875d7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Potocki_Lupski_syndrome_patient_1.json @@ -0,0 +1,260 @@ +{ + "id": "potocki-lupski_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P61Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003146", + "label": "Hypocholesterolemia" + } + }, + { + "type": { + "id": "HP:0000325", + "label": "Triangular face" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0010844", + "label": "EEG with multifocal slow activity" + } + }, + { + "type": { + "id": "HP:0011994", + "label": "Abnormal atrial septum morphology" + } + }, + { + "type": { + "id": "HP:0034434", + "label": "Abnormal communication" + } + }, + { + "type": { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Preaxial_deficiency_postaxial_polydactyly_and_hypospadias_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Preaxial_deficiency_postaxial_polydactyly_and_hypospadias_patient_1.json new file mode 100644 index 000000000..a579b7ecf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Preaxial_deficiency_postaxial_polydactyly_and_hypospadias_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "preaxial_deficiency,_postaxial_polydactyly,_and_hypospadias", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001885", + "label": "Short 2nd toe" + } + }, + { + "type": { + "id": "HP:0000807", + "label": "Glandular hypospadias" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:176305", + "label": "Preaxial deficiency, postaxial polydactyly, and hypospadias" + } + } + ], + "metaData": { + "created": "2024-06-11T22:53:52.739010Z", + "createdBy": 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+ "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000819", + "label": "Diabetes mellitus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601759", + "label": "Preaxial hallucal polydactyly" + } + } + ], + "metaData": { + "created": "2024-06-11T21:47:22.318763Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Precocious_puberty_central_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Precocious_puberty_central_2_patient_1.json new file mode 100644 index 000000000..2d595cf8b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Precocious_puberty_central_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "precocious_puberty,_central,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005616", + "label": "Accelerated skeletal maturation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615346", + "label": "Precocious puberty, central, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:40:55.763401Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + 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100644 index 000000000..686c95ee0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Precocious_puberty_male_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "precocious_puberty,_male", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008185", + "label": "Precocious puberty in males" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:176410", + "label": "Precocious puberty, male" + } + } + ], + "metaData": { + "created": "2024-06-11T22:27:10.602243Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Preimplantation_embryonic_lethality_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "preimplantation_embryonic_lethality_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008222", + "label": "Female infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616814", + "label": "Preimplantation embryonic lethality 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:29:43.680987Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Preimplantation_embryonic_lethality_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Preimplantation_embryonic_lethality_2_patient_1.json new file mode 100644 index 000000000..03c7f9d2c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Preimplantation_embryonic_lethality_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "preimplantation_embryonic_lethality_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000789", + "label": "Infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617234", + "label": "Preimplantation embryonic lethality 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:06:49.303319Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Prekallikrein_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Prekallikrein_deficiency_patient_1.json new file mode 100644 index 000000000..b5a79528b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Prekallikrein_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "prekallikrein_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003645", + "label": "Prolonged partial thromboplastin time" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612423", + "label": "Prekallikrein deficiency" + } + } + ], + "metaData": { + "created": "2024-06-12T01:07:19.801077Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_aging_syndrome_Okamoto_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_aging_syndrome_Okamoto_type_patient_1.json new file mode 100644 index 000000000..be5957f86 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_aging_syndrome_Okamoto_type_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "premature_aging_syndrome,_okamoto_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0011846", + "label": "Osteoblastoma" + } + }, + { + "type": { + "id": "HP:0000523", + "label": "Subcapsular cataract" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0040195", + "label": "Decreased head circumference" + } + }, + { + "type": { + "id": "HP:0000857", + "label": "Neonatal insulin-dependent diabetes mellitus" + } + }, + { + "type": { + "id": "HP:0002669", + "label": "Osteosarcoma" + } + }, + { + "type": { + "id": "HP:0025521", + "label": "Increased body fat percentage" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601811", + "label": "Premature aging syndrome, Okamoto type" + } + } + ], + "metaData": { + "created": "2024-06-11T20:54:23.536385Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_aging_syndrome_Penttinen_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_aging_syndrome_Penttinen_type_patient_1.json new file mode 100644 index 000000000..d80c9097d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_aging_syndrome_Penttinen_type_patient_1.json @@ -0,0 +1,165 @@ +{ + "id": "premature_aging_syndrome,_penttinen_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007495", + "label": "Prematurely aged appearance" + } + }, + { + "type": { + "id": "HP:0000256", + "label": "Macrocephaly" + } + }, + { + "type": { + "id": "HP:0002982", + "label": "Tibial bowing" + } + }, + { + "type": { + "id": "HP:0006951", + "label": "Retrocerebellar cyst" + } + }, + { + "type": { + "id": "HP:0010500", + "label": "Hyperextensibility of the knee" + } + }, + { + "type": { + "id": "HP:0100578", + "label": "Lipoatrophy" + } + }, + { + "type": { + "id": "HP:0010941", + "label": "Aplasia of the nasal bone" + } + }, + { + "type": { + "id": "HP:0000891", + "label": "Cervical ribs" + } + }, + { + "type": { + "id": "HP:0004334", + "label": "Dermal atrophy" + } + }, + { + "type": { + "id": "HP:0009839", + "label": "Osteolytic defects of the distal phalanges of the hand" + } + }, + { + "type": { + "id": "HP:0008070", + "label": "Sparse hair" + } + }, + { + "type": { + "id": "HP:0012040", + "label": "Corneal stromal edema" + } + }, + { + "type": { + "id": "HP:0003196", + "label": "Short nose" + } + }, + { + "type": { + "id": "HP:0002925", + "label": "Elevated circulating thyroid-stimulating hormone concentration" + } + }, + { + "type": { + "id": "HP:0000444", + "label": "Convex nasal ridge" + } + }, + { + "type": { + "id": "HP:0000426", + "label": "Prominent nasal bridge" + } + }, + { + "type": { + "id": "HP:0000460", + "label": "Narrow nose" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0000233", + "label": "Thin vermilion border" + } + }, + { + "type": { + "id": "HP:0000601", + "label": "Hypotelorism" + } + }, + { + "type": { + "id": "HP:0012487", + "label": "Cerebellopontine angle arachnoid cyst" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601812", + "label": "Premature aging syndrome, Penttinen type" + } + } + ], + "metaData": { + "created": "2024-06-11T20:32:18.473219Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_centromere_division_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_centromere_division_patient_1.json new file mode 100644 index 000000000..d468413ab --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_centromere_division_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "premature_centromere_division", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001939", + "label": "Abnormality of metabolism/homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:212790", + "label": "Premature centromere division" + } + } + ], + "metaData": { + "created": "2024-06-11T17:42:48.488839Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_chromatid_separation_trait_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_chromatid_separation_trait_patient_1.json new file mode 100644 index 000000000..d5a9ec93d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_chromatid_separation_trait_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "premature_chromatid_separation_trait", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200024", + "label": "Premature chromatid separation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:176430", + "label": "Premature chromatid separation trait" + } + } + ], + "metaData": { + "created": "2024-06-11T20:51:54.842319Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_10_patient_1.json new file mode 100644 index 000000000..90175d5e3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_10_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "premature_ovarian_failure_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000786", + "label": "Primary amenorrhea" + } + }, + { + "type": { + "id": "HP:0010514", + "label": "Hyperpituitarism" + } + }, + { + "type": { + "id": "HP:0008209", + "label": "Premature ovarian insufficiency" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612885", + "label": "Premature ovarian failure 10" + } + } + ], + "metaData": { + "created": "2024-06-11T20:33:49.312557Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_11_patient_1.json new file mode 100644 index 000000000..0d524fe25 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_11_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "premature_ovarian_failure_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000869", + "label": "Secondary amenorrhea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616946", + "label": "Premature ovarian failure 11" + } + } + ], + "metaData": { + "created": "2024-06-11T19:47:58.710500Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_12_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_12_patient_1.json new file mode 100644 index 000000000..986b31d93 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_12_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "premature_ovarian_failure_12", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007754", + "label": "Macular dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616947", + "label": "Premature ovarian failure 12" + } + } + ], + "metaData": { + "created": "2024-06-11T20:10:01.699471Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_13_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_13_patient_1.json new file mode 100644 index 000000000..72d3ee828 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_13_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "premature_ovarian_failure_13", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P16Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000786", + "label": "Primary amenorrhea" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011462", + "label": "Young adult onset" + } + } + }, + { + "type": { + "id": "HP:0000876", + "label": "Oligomenorrhea" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617442", + "label": "Premature ovarian failure 13" + } + } + ], + "metaData": { + "created": "2024-06-11T20:11:50.587451Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_14_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_14_patient_1.json new file mode 100644 index 000000000..5bb1d03f9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_14_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "premature_ovarian_failure_14", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003117", + "label": "Abnormal circulating hormone concentration" + } + }, + { + "type": { + "id": "HP:0030345", + "label": "Abnormal circulating luteinizing hormone concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618014", + "label": "Premature ovarian failure 14" + } + } + ], + "metaData": { + "created": "2024-06-11T19:44:03.673256Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_15_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_15_patient_1.json new file mode 100644 index 000000000..5e178512b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_15_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "premature_ovarian_failure_15", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000858", + "label": "Irregular menstruation" + } + }, + { + "type": { + "id": "HP:0003117", + "label": "Abnormal circulating hormone concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618096", + "label": "Premature ovarian failure 15" + } + } + ], + "metaData": { + "created": "2024-06-11T23:27:51.394701Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_16_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_16_patient_1.json new file mode 100644 index 000000000..f897fa408 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_16_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "premature_ovarian_failure_16", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008232", + "label": "Elevated circulating follicle stimulating hormone level" + } + }, + { + "type": { + "id": "HP:0030012", + "label": "Abnormal female reproductive system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618723", + "label": "Premature ovarian failure 16" + } + } + ], + "metaData": { + "created": "2024-06-11T23:30:49.521790Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_17_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_17_patient_1.json new file mode 100644 index 000000000..4165eddb4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_17_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "premature_ovarian_failure_17", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000837", + "label": "Increased circulating gonadotropin level" + } + }, + { + "type": { + "id": "HP:0008214", + "label": "Decreased serum estradiol" + } + }, + { + "type": { + "id": "HP:0003117", + "label": "Abnormal circulating hormone concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619146", + "label": "Premature ovarian failure 17" + } + } + ], + "metaData": { + "created": "2024-06-11T19:18:22.571184Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_18_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_18_patient_1.json new file mode 100644 index 000000000..40b98c6ee --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_18_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "premature_ovarian_failure_18", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008232", + "label": "Elevated circulating follicle stimulating hormone level" + } + }, + { + "type": { + "id": "HP:0031103", + "label": "Decreased cirrculating antimullerian hormone circulation" + } + }, + { + "type": { + "id": "HP:0000013", + "label": "Hypoplasia of the uterus" + } + }, + { + "type": { + "id": "HP:0000869", + "label": "Secondary amenorrhea" + } + }, + { + "type": { + "id": "HP:0011969", + "label": "Elevated circulating luteinizing hormone level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619203", + "label": "Premature ovarian failure 18" + } + } + ], + "metaData": { + "created": "2024-06-11T23:21:04.474303Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_19_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_19_patient_1.json new file mode 100644 index 000000000..6d8807840 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_19_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "premature_ovarian_failure_19", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008209", + "label": "Premature ovarian insufficiency" + } + }, + { + "type": { + "id": "HP:0000869", + "label": "Secondary amenorrhea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619245", + "label": "Premature ovarian failure 19" + } + } + ], + "metaData": { + "created": "2024-06-11T20:25:24.120540Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_1_patient_1.json new file mode 100644 index 000000000..2967d641e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "premature_ovarian_failure_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000858", + "label": "Irregular menstruation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:311360", + "label": "Premature ovarian failure 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:50:34.531711Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_20_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_20_patient_1.json new file mode 100644 index 000000000..45f7fd495 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_20_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "premature_ovarian_failure_20", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008222", + "label": "Female infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619938", + "label": "Premature ovarian failure 20" + } + } + ], + "metaData": { + "created": "2024-06-11T20:54:32.609896Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_21_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_21_patient_1.json new file mode 100644 index 000000000..abef10a3e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_21_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "premature_ovarian_failure_21", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008232", + "label": "Elevated circulating follicle stimulating hormone level" + } + }, + { + "type": { + "id": "HP:0010464", + "label": "Streak ovary" + } + }, + { + "type": { + "id": "HP:0003117", + "label": "Abnormal circulating hormone concentration" + } + }, + { + "type": { + "id": "HP:0000141", + "label": "Amenorrhea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620311", + "label": "Premature ovarian failure 21" + } + } + ], + "metaData": { + "created": "2024-06-11T17:57:52.395498Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_22_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_22_patient_1.json new file mode 100644 index 000000000..d0e07d902 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_22_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "premature_ovarian_failure_22", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P22Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030012", + "label": "Abnormal female reproductive system physiology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011462", + "label": "Young adult onset" + } + } + }, + { + "type": { + "id": "HP:0008209", + "label": "Premature ovarian insufficiency" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620548", + "label": "Premature ovarian failure 22" + } + } + ], + "metaData": { + "created": "2024-06-11T19:42:39.380523Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_2A_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_2A_patient_1.json new file mode 100644 index 000000000..28e8440fc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_2A_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "premature_ovarian_failure_2a", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008209", + "label": "Premature ovarian insufficiency" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300511", + "label": "Premature ovarian failure 2A" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:37.731713Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_2B_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_2B_patient_1.json new file mode 100644 index 000000000..4b1d8699a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_2B_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "premature_ovarian_failure_2b", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012569", + "label": "Delayed menarche" + } + }, + { + "type": { + "id": "HP:0000141", + "label": "Amenorrhea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300604", + "label": "Premature ovarian failure 2B" + } + } + ], + "metaData": { + "created": "2024-06-11T23:25:06.734835Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_3_patient_1.json new file mode 100644 index 000000000..36bc4b610 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "premature_ovarian_failure_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000869", + "label": "Secondary amenorrhea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608996", + "label": "Premature ovarian failure 3" + } + } + ], + "metaData": { + "created": "2024-06-11T20:58:53.107823Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_5_patient_1.json new file mode 100644 index 000000000..c3b0efe1e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_5_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "premature_ovarian_failure_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008209", + "label": "Premature ovarian insufficiency" + } + }, + { + "type": { + "id": "HP:0010464", + "label": "Streak ovary" + } + }, + { + "type": { + "id": "HP:0000869", + "label": "Secondary amenorrhea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611548", + "label": "Premature ovarian failure 5" + } + } + ], + "metaData": { + "created": "2024-06-11T21:05:10.424832Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_6_patient_1.json new file mode 100644 index 000000000..2bb19d01b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_6_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "premature_ovarian_failure_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008232", + "label": "Elevated circulating follicle stimulating hormone level" + } + }, + { + "type": { + "id": "HP:0010464", + "label": "Streak ovary" + } + }, + { + "type": { + "id": "HP:0011969", + "label": "Elevated circulating luteinizing hormone level" + } + }, + { + "type": { + "id": "HP:0000144", + "label": "Decreased fertility" + } + }, + { + "type": { + "id": "HP:0000786", + "label": "Primary amenorrhea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612310", + "label": "Premature ovarian failure 6" + } + } + ], + "metaData": { + "created": "2024-06-11T20:25:38.172547Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_7_patient_1.json new file mode 100644 index 000000000..936bf2269 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_7_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "premature_ovarian_failure_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003117", + "label": "Abnormal circulating hormone concentration" + } + }, + { + "type": { + "id": "HP:0003117", + "label": "Abnormal circulating hormone concentration" + } + }, + { + "type": { + "id": "HP:0008209", + "label": "Premature ovarian insufficiency" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612964", + "label": "Premature ovarian failure 7" + } + } + ], + "metaData": { + "created": "2024-06-11T23:51:08.979354Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_8_patient_1.json new file mode 100644 index 000000000..08361d32d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_8_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "premature_ovarian_failure_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008214", + "label": "Decreased serum estradiol" + } + }, + { + "type": { + "id": "HP:0011969", + "label": "Elevated circulating luteinizing hormone level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615723", + "label": "Premature ovarian failure 8" + } + } + ], + "metaData": { + "created": "2024-06-11T21:00:00.359851Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_9_patient_1.json new file mode 100644 index 000000000..0d23912c5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Premature_ovarian_failure_9_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "premature_ovarian_failure_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008209", + "label": "Premature ovarian insufficiency" + } + }, + { + "type": { + "id": "HP:0000141", + "label": "Amenorrhea" + } + }, + { + "type": { + "id": "HP:0003117", + "label": "Abnormal circulating hormone concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615724", + "label": "Premature ovarian failure 9" + } + } + ], + "metaData": { + "created": "2024-06-11T19:50:37.641560Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Prenatal_bowing_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Prenatal_bowing_patient_1.json new file mode 100644 index 000000000..cbf0500cd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Prenatal_bowing_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "prenatal_bowing", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000951", + "label": "Abnormality of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:264050", + "label": "Prenatal bowing" + } + } + ], + "metaData": { + "created": "2024-06-11T22:00:19.457324Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Prepapillary_vascular_loops_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Prepapillary_vascular_loops_patient_1.json new file mode 100644 index 000000000..82bac6470 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Prepapillary_vascular_loops_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "prepapillary_vascular_loops", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000478", + "label": "Abnormality of the eye" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:264060", + "label": "Prepapillary vascular loops" + } + } + ], + "metaData": { + "created": "2024-06-11T19:56:54.462158Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Presenile_dementia_Kraepelin_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Presenile_dementia_Kraepelin_type_patient_1.json new file mode 100644 index 000000000..f272fa092 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Presenile_dementia_Kraepelin_type_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "presenile_dementia,_kraepelin_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000726", + "label": "Dementia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:176600", + "label": "Presenile dementia, Kraepelin type" + } + } + ], + "metaData": { + "created": "2024-06-11T21:36:05.160187Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Preterm_premature_rupture_of_the_membranes_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Preterm_premature_rupture_of_the_membranes_patient_1.json new file mode 100644 index 000000000..b70cf27b5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Preterm_premature_rupture_of_the_membranes_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "preterm_premature_rupture_of_the_membranes", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001788", + "label": "Premature rupture of membranes" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610504", + "label": "Preterm premature rupture of the membranes" + } + } + ], + "metaData": { + "created": "2024-06-11T20:50:07.244458Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Prieto_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Prieto_syndrome_patient_1.json new file mode 100644 index 000000000..37c94f9b4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Prieto_syndrome_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "prieto_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004349", + "label": "Reduced bone mineral density" + } + }, + { + "type": { + "id": "HP:0000348", + "label": "High forehead" + } + }, + { + "type": { + "id": "HP:0010665", + "label": "Bilateral coxa valga" + } + }, + { + "type": { + "id": "HP:0010499", + "label": "Patellar subluxation" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + }, + { + "type": { + "id": "HP:0040251", + "label": "Hand dimple" + } + }, + { + "type": { + "id": "HP:0000448", + "label": "Prominent nose" + } + }, + { + "type": { + "id": "HP:0003397", + "label": "Generalized hypotonia due to defect at the neuromuscular junction" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:309610", + "label": "Prieto syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:50:57.969664Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Primary_aldosteronism_seizures_and_neurologic_abnormalities_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Primary_aldosteronism_seizures_and_neurologic_abnormalities_patient_1.json new file mode 100644 index 000000000..6533b2bd3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Primary_aldosteronism_seizures_and_neurologic_abnormalities_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "primary_aldosteronism,_seizures,_and_neurologic_abnormalities", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001712", + "label": "Left ventricular hypertrophy" + } + }, + { + "type": { + "id": "HP:0001655", + "label": "Patent foramen ovale" + } + }, + { + "type": { + "id": "HP:0011736", + "label": "Primary hyperaldosteronism" + } + }, + { + "type": { + "id": "HP:0000787", + "label": "Nephrolithiasis" + } + }, + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0002092", + "label": "Pulmonary arterial hypertension" + } + }, + { + "type": { + "id": "HP:0002069", + "label": "Bilateral tonic-clonic seizure" + } + }, + { + "type": { + "id": "HP:0003351", + "label": "Decreased circulating renin level" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0007326", + "label": "Progressive choreoathetosis" + } + }, + { + "type": { + "id": "HP:0004909", + "label": "Hypokalemic hypochloremic metabolic alkalosis" + } + }, + { + "type": { + "id": "HP:0034183", + "label": "Spastic triplegia" + } + }, + { + "type": { + "id": "HP:0200128", + "label": "Biventricular hypertrophy" + } + }, + { + "type": { + "id": "HP:0012726", + "label": "Episodic hypokalemia" + } + }, + { + "type": { + "id": "HP:0100817", + "label": "Renovascular hypertension" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615474", + "label": "Primary aldosteronism, seizures, and neurologic abnormalities" + } + } + ], + "metaData": { + "created": "2024-06-11T22:31:48.252131Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Primary_lateral_sclerosis_adult_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Primary_lateral_sclerosis_adult_patient_1.json new file mode 100644 index 000000000..fa5b68cf4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Primary_lateral_sclerosis_adult_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "primary_lateral_sclerosis,_adult", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002464", + "label": "Spastic dysarthria" + } + }, + { + "type": { + "id": "HP:0031957", + "label": "Spastic hemiparetic gait" + } + }, + { + "type": { + "id": "HP:0012757", + "label": "Abnormal neuron morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611637", + "label": "Primary lateral sclerosis, adult" + } + } + ], + "metaData": { + "created": "2024-06-11T19:32:59.184235Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Primary_lateral_sclerosis_juvenile_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Primary_lateral_sclerosis_juvenile_patient_1.json new file mode 100644 index 000000000..b8122ff6e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Primary_lateral_sclerosis_juvenile_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "primary_lateral_sclerosis,_juvenile", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002120", + "label": "Cerebral cortical atrophy" + } + }, + { + "type": { + "id": "HP:0002193", + "label": "Pseudobulbar affect" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0002200", + "label": "Pseudobulbar signs" + } + }, + { + "type": { + "id": "HP:0007024", + "label": "Pseudobulbar paralysis" + } + }, + { + "type": { + "id": "HP:0000183", + "label": "Difficulty in tongue movements" + } + }, + { + "type": { + "id": "HP:0001152", + "label": "Saccadic smooth pursuit" + } + }, + { + "type": { + "id": "HP:0001017", + "label": "Anemic pallor" + } + }, + { + "type": { + "id": "HP:0012757", + "label": "Abnormal neuron morphology" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0002510", + "label": "Spastic tetraplegia" + } + }, + { + "type": { + "id": "HP:0001285", + "label": "Spastic tetraparesis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606353", + "label": "Primary lateral sclerosis, juvenile" + } + } + ], + "metaData": { + "created": "2024-06-11T22:25:57.477883Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Primary_release_disorder_of_platelets_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Primary_release_disorder_of_platelets_patient_1.json new file mode 100644 index 000000000..6ccd0d2fc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Primary_release_disorder_of_platelets_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "primary_release_disorder_of_platelets", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004406", + "label": "Spontaneous, recurrent epistaxis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:176630", + "label": "Primary release disorder of platelets" + } + } + ], + "metaData": { + "created": "2024-06-11T20:22:57.881883Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Prostatic_hyperplasia_benign_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "prostatic_hyperplasia,_benign", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008711", + "label": "Benign prostatic hyperplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600082", + "label": "Prostatic hyperplasia, benign" + } + } + ], + "metaData": { + "created": "2024-06-11T21:13:57.513457Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Proteasome_Associated_autoinflammatory_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Proteasome_Associated_autoinflammatory_syndrome_2_patient_1.json new file mode 100644 index 000000000..522c951a7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Proteasome_Associated_autoinflammatory_syndrome_2_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "proteasome-associated_autoinflammatory_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025528", + "label": "Annular cutaneous lesion" + } + }, + { + "type": { + "id": "HP:0003565", + "label": "Elevated erythrocyte sedimentation rate" + } + }, + { + "type": { + "id": "HP:0002716", + "label": "Lymphadenopathy" + } + }, + { + "type": { + "id": "HP:0000988", + "label": "Skin rash" + } + }, + { + "type": { 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000000000..e46192ff8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Proteasome_Associated_autoinflammatory_syndrome_3_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "proteasome-associated_autoinflammatory_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025131", + "label": "Finger swelling" + } + }, + { + "type": { + "id": "HP:0001369", + "label": "Arthritis" + } + }, + { + "type": { + "id": "HP:0002829", + "label": "Arthralgia" + } + }, + { + "type": { + "id": "HP:0001744", + "label": "Splenomegaly" + } + }, + { + "type": { + "id": "HP:0002719", + "label": "Recurrent infections" + } + }, + { + "type": { + "id": "HP:0100614", + "label": "Myositis" + } + }, + { + "type": { + "id": "HP:0001954", + "label": "Recurrent fever" + } + }, + { + "type": { + "id": "HP:0000509", + "label": "Conjunctivitis" + } + }, + { + "type": { + "id": "HP:0034684", + "label": "Abnormal enzyme concentration or activity" + } + }, + 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@@ -0,0 +1,87 @@ +{ + "id": "proteasome-associated_autoinflammatory_syndrome_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0100614", + "label": "Myositis" + } + }, + { + "type": { + "id": "HP:0001890", + "label": "Autoimmune hemolytic anemia" + } + }, + { + "type": { + "id": "HP:0002463", + "label": "Language impairment" + } + }, + { + "type": { + "id": "HP:0009124", + "label": "Abnormal adipose tissue morphology" + } + }, + { + "type": { + "id": "HP:0000969", + "label": "Edema" + } + }, + { + "type": { + "id": "HP:0006268", + "label": "Fluctuating splenomegaly" + } + }, + { + "type": { + "id": "HP:0011276", + "label": "Vascular skin abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619183", + "label": "Proteasome-associated autoinflammatory syndrome 4" + } + } + ], + "metaData": { + "created": "2024-06-11T18:26:20.012630Z", + "createdBy": 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Protoporphyria_erythropoietic_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Protoporphyria_erythropoietic_2_patient_1.json new file mode 100644 index 000000000..db1eef144 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Protoporphyria_erythropoietic_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "protoporphyria,_erythropoietic,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000992", + "label": "Cutaneous photosensitivity" + } + }, + { + "type": { + "id": "HP:0012187", + "label": "Increased erythrocyte protoporphyrin concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618015", + "label": "Protoporphyria, erythropoietic, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:23:45.339450Z", + "createdBy": "phenotype2phenopacket", + 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+ ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Protrusio_acetabuli_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Protrusio_acetabuli_patient_1.json new file mode 100644 index 000000000..dacebe5f0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Protrusio_acetabuli_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "protrusio_acetabuli", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003273", + "label": "Hip contracture" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:177050", + "label": "Protrusio acetabuli" + } + } + ], + "metaData": { + "created": "2024-06-11T21:15:27.796835Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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"HP:0003236", + "label": "Elevated circulating creatine kinase concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600706", + "label": "Proximal myopathy with focal depletion of mitochondria" + } + } + ], + "metaData": { + "created": "2024-06-11T19:32:05.147729Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Prune_belly_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Prune_belly_syndrome_patient_1.json new file mode 100644 index 000000000..379a5182b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Prune_belly_syndrome_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "prune_belly_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004392", + "label": "Prune belly" + } + }, + { + "type": { + "id": "HP:0001562", + "label": "Oligohydramnios" + } + }, + { + "type": { + "id": "HP:0000767", + "label": "Pectus excavatum" + } + }, + { + "type": { + "id": "HP:0030211", + "label": "Slow pupillary light response" + } + }, + { + "type": { + "id": "HP:0000217", + "label": "Xerostomia" + } + }, + { + "type": { + "id": "HP:0001883", + "label": "Talipes" + } + }, + { + "type": { + "id": "HP:0000126", + "label": "Hydronephrosis" + } + }, + { + "type": { + "id": "HP:0034915", + "label": "Abnormal anus morphology" + } + }, + { + "type": { + "id": "HP:0000796", + "label": "Urethral obstruction" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:100100", + "label": "Prune belly syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:36:02.917973Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Prune_belly_syndrome_with_pulmonic_stenosis_mental_retardation_anddeafness_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Prune_belly_syndrome_with_pulmonic_stenosis_mental_retardation_anddeafness_patient_1.json new file mode 100644 index 000000000..5476af636 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Prune_belly_syndrome_with_pulmonic_stenosis_mental_retardation_anddeafness_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "prune_belly_syndrome_with_pulmonic_stenosis,_mental_retardation,_anddeafness", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001642", + "label": "Pulmonic stenosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:264140", + "label": "Prune belly syndrome with pulmonic stenosis, mental retardation, anddeafness" + } + } + ], + "metaData": { + "created": "2024-06-11T23:06:51.751973Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pruritic_urticarial_papules_and_plaques_of_pregnancy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pruritic_urticarial_papules_and_plaques_of_pregnancy_patient_1.json new file mode 100644 index 000000000..cd6ebdcf1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pruritic_urticarial_papules_and_plaques_of_pregnancy_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pruritic_urticarial_papules_and_plaques_of_pregnancy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001065", + "label": "Striae distensae" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:178995", + "label": "Pruritic urticarial papules and plaques of pregnancy" + } + } + ], + "metaData": { + "created": "2024-06-11T21:33:20.274327Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pruritus_hereditary_localized_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pruritus_hereditary_localized_patient_1.json new file mode 100644 index 000000000..bba85ca07 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pruritus_hereditary_localized_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pruritus,_hereditary_localized", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000989", + "label": "Pruritus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:177100", + "label": "Pruritus, hereditary localized" + } + } + ], + "metaData": { + "created": "2024-06-11T21:00:04.479164Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudo_Torch_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudo_Torch_syndrome_2_patient_1.json new file mode 100644 index 000000000..f47ed5af6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudo_Torch_syndrome_2_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "pseudo-torch_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025116", + "label": "Fetal distress" + } + }, + { + "type": { + "id": "HP:0033677", + "label": "Acute respiratory distress syndrome" + } + }, + { + "type": { + "id": "HP:0000967", + "label": "Petechiae" + } + }, + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0006956", + "label": "Lateral ventricle dilatation" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0002093", + "label": "Respiratory insufficiency" + } + }, + { + "type": { + "id": "HP:0000883", + "label": "Thin ribs" + } + }, + { + "type": { + "id": "HP:0001342", + "label": "Cerebral hemorrhage" + } + }, + { + "type": { + "id": "HP:0002202", + "label": "Pleural effusion" + } + }, + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0001684", + "label": "Secundum atrial septal defect" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617397", + "label": "Pseudo-Torch syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:57:50.161411Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudo_Torch_syndrome_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudo_Torch_syndrome_3_patient_1.json new file mode 100644 index 000000000..423fe4661 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudo_Torch_syndrome_3_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "pseudo-torch_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010993", + "label": "Abnormal cerebral subcortex morphology" + } + }, + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + }, + { + "type": { + "id": "HP:0005462", + "label": "Calcification of falx cerebri" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + }, + { + "type": { + "id": "HP:0005267", + "label": "Premature delivery because of cervical insufficiency or membrane fragility" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618886", + "label": "Pseudo-Torch syndrome 3" + } + } + ], + "metaData": { + "created": "2024-06-11T18:41:53.634090Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"id": "HP:0004854", + "label": "Intermittent thrombocytopenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:177820", + "label": "Pseudo-Von willebrand disease" + } + } + ], + "metaData": { + "created": "2024-06-11T18:32:29.782192Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudoachondroplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudoachondroplasia_patient_1.json new file mode 100644 index 000000000..ec3a3dcc0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudoachondroplasia_patient_1.json @@ -0,0 +1,98 @@ +{ + "id": "pseudoachondroplasia", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P3Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002970", + "label": "Genu varum" + } + }, + { + "type": { + "id": "HP:0001377", + "label": "Limited elbow extension" + } + }, + { + "type": { + "id": "HP:0010049", + "label": "Short metacarpal" + } + }, + { + "type": { + "id": "HP:0003093", + "label": "Limited hip extension" + } + }, + { + "type": { + "id": "HP:0004042", + "label": "Ulnar metaphyseal irregularity" + } + }, + { + "type": { + "id": "HP:0002938", + "label": "Lumbar hyperlordosis" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0004227", + "label": "Short distal phalanx of the 5th finger" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:177170", + "label": "Pseudoachondroplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:10:32.680270Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudoatrophoderma_colli_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudoatrophoderma_colli_patient_1.json new file mode 100644 index 000000000..df6c4645c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudoatrophoderma_colli_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pseudoatrophoderma_colli", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000951", + "label": "Abnormality of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:177350", + "label": "Pseudoatrophoderma colli" + } + } + ], + "metaData": { + "created": "2024-06-11T22:46:02.071161Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudodiastrophic_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudodiastrophic_dysplasia_patient_1.json new file mode 100644 index 000000000..56dd07c3a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudodiastrophic_dysplasia_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "pseudodiastrophic_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002938", + "label": "Lumbar hyperlordosis" + } + }, + { + "type": { + "id": "HP:0005680", + "label": "Tongue-like lumbar vertebral deformities" + } + }, + { + "type": { + "id": "HP:0001945", + "label": "Fever" + } + }, + { + "type": { + "id": "HP:0003042", + "label": "Elbow dislocation" + } + }, + { + "type": { + "id": "HP:0002719", + "label": "Recurrent infections" + } + }, + { + "type": { + "id": "HP:0003311", + "label": "Hypoplasia of the odontoid process" + } + }, + { + "type": { + "id": "HP:0000926", + "label": "Platyspondyly" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0008905", + "label": "Rhizomelia" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:264180", + "label": "Pseudodiastrophic dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:28:20.271582Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"pseudohermaphroditism,_female,_with_skeletal_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005790", + "label": "Short mandibular condyles" + } + }, + { + "type": { + "id": "HP:0008665", + "label": "Clitoral hypertrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:264270", + "label": "Pseudohermaphroditism, female, with skeletal anomalies" + } + } + ], + "metaData": { + "created": "2024-06-11T20:47:34.309104Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohermaphroditism_male_with_gynecomastia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohermaphroditism_male_with_gynecomastia_patient_1.json new file mode 100644 index 000000000..b787c13ef --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohermaphroditism_male_with_gynecomastia_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "pseudohermaphroditism,_male,_with_gynecomastia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000789", + "label": "Infertility" + } + }, + { + "type": { + "id": "HP:0000037", + "label": "Male pseudohermaphroditism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:264300", + "label": "Pseudohermaphroditism, male, with gynecomastia" + } + } + ], + "metaData": { + "created": "2024-06-11T19:42:09.980240Z", + "createdBy": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohyperkalemia_familial_2_due_to_red_cell_leak_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pseudohyperkalemia,_familial,_2,_due_to_red_cell_leak", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002378", + "label": "Hand tremor" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609153", + "label": "Pseudohyperkalemia, familial, 2, due to red cell leak" + } + } + ], + "metaData": { + "created": "2024-06-11T17:42:28.148953Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_IB2_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_IB2_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..b308c86a8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_IB2_autosomal_recessive_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "pseudohypoaldosteronism,_type_ib2,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002717", + "label": "Adrenal overactivity" + } + }, + { + "type": { + "id": "HP:0010929", + "label": "Abnormal blood cation concentration" + } + }, + { + "type": { + "id": "HP:0005976", + "label": "Hyperkalemic metabolic acidosis" + } + }, + { + "type": { + "id": "HP:0000848", + "label": "Increased circulating renin level" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620125", + "label": "Pseudohypoaldosteronism, type IB2, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T23:22:19.355899Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_IB3_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_IB3_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..d50a751a8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_IB3_autosomal_recessive_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pseudohypoaldosteronism,_type_ib3,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002153", + "label": "Hyperkalemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620126", + "label": "Pseudohypoaldosteronism, type IB3, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T22:58:20.540693Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"HP:0004918", + "label": "Hyperchloremic metabolic acidosis" + } + }, + { + "type": { + "id": "HP:0011423", + "label": "Hyperchloremia" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614491", + "label": "Pseudohypoaldosteronism, type IIB" + } + } + ], + "metaData": { + "created": "2024-06-11T23:01:10.109324Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_IIC_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_IIC_patient_1.json new file mode 100644 index 000000000..f343bb084 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_IIC_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "pseudohypoaldosteronism,_type_iic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008242", + "label": "Pseudohypoaldosteronism" + } + }, + { + "type": { + "id": "HP:0011423", + "label": "Hyperchloremia" + } + }, + { + "type": { + "id": "HP:0003351", + "label": "Decreased circulating renin level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614492", + "label": "Pseudohypoaldosteronism, type IIC" + } + } + ], + "metaData": { + "created": "2024-06-11T23:25:16.408738Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_IID_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_IID_patient_1.json new file mode 100644 index 000000000..e07c3d885 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_IID_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pseudohypoaldosteronism,_type_iid", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011423", + "label": "Hyperchloremia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614495", + "label": "Pseudohypoaldosteronism, type IID" + } + } + ], + "metaData": { + "created": "2024-06-12T00:31:45.491317Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_IIE_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_IIE_patient_1.json new file mode 100644 index 000000000..763a73172 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_IIE_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "pseudohypoaldosteronism,_type_iie", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011423", + "label": "Hyperchloremia" + } + }, + { + "type": { + "id": "HP:0001941", + "label": "Acidosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614496", + "label": "Pseudohypoaldosteronism, type IIE" + } + } + ], + "metaData": { + "created": "2024-06-11T23:34:33.869234Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_II_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_II_patient_1.json new file mode 100644 index 000000000..a5375a02c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_II_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pseudohypoaldosteronism,_type_ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002153", + "label": "Hyperkalemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:145260", + "label": "Pseudohypoaldosteronism, type II" + } + } + ], + "metaData": { + "created": "2024-06-11T17:49:53.944888Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_I_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_I_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..8694edc43 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_I_autosomal_dominant_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "pseudohypoaldosteronism,_type_i,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0002902", + "label": "Hyponatremia" + } + }, + { + "type": { + "id": "HP:0002014", + "label": "Diarrhea" + } + }, + { + "type": { + "id": "HP:0008242", + "label": "Pseudohypoaldosteronism" + } + }, + { + "type": { + "id": "HP:0000859", + "label": "Hyperaldosteronism" + } + }, + { + "type": { + "id": "HP:0010930", + "label": "Abnormal blood monovalent inorganic cation concentration" + } + }, + { + "type": { + "id": "HP:0004906", + "label": "Hypernatremic dehydration" + } + }, + { + "type": { + "id": "HP:0040084", + "label": "Abnormal circulating renin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:177735", + "label": "Pseudohypoaldosteronism, type I, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:41.315026Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_I_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_I_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..50def459c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoaldosteronism_type_I_autosomal_recessive_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "pseudohypoaldosteronism,_type_i,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001942", + "label": "Metabolic acidosis" + } + }, + { + "type": { + "id": "HP:0001944", + "label": "Dehydration" + } + }, + { + "type": { + "id": "HP:0002153", + "label": "Hyperkalemia" + } + }, + { + "type": { + "id": "HP:0000859", + "label": "Hyperaldosteronism" + } + }, + { + "type": { + "id": "HP:0000841", + "label": "Hyperactive renin-angiotensin system" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + }, + { + "type": { + "id": "HP:0008242", + "label": "Pseudohypoaldosteronism" + } + }, + { + "type": { + "id": "HP:0002017", + "label": "Nausea and vomiting" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:264350", + "label": "Pseudohypoaldosteronism, type I, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T23:51:25.247534Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoparathyroidism_type_IA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoparathyroidism_type_IA_patient_1.json new file mode 100644 index 000000000..c48765934 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoparathyroidism_type_IA_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "pseudohypoparathyroidism,_type_ia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000852", + "label": "Pseudohypoparathyroidism" + } + }, + { + "type": { + "id": "HP:0000293", + "label": "Full cheeks" + } + }, + { + "type": { + "id": "HP:0000135", + "label": "Hypogonadism" + } + }, + { + "type": { + "id": "HP:0000821", + "label": "Hypothyroidism" + } + }, + { + "type": { + "id": "HP:0010049", + "label": "Short metacarpal" + } + }, + { + "type": { + "id": "HP:0010697", + "label": "Anterior pyramidal cataract" + } + }, + { + "type": { + "id": "HP:0011927", + "label": "Short digit" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0003456", + "label": "Low urinary cyclic AMP response to PTH administration" + } + }, + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0011927", + "label": "Short digit" + } + }, + { + "type": { + "id": "HP:0006960", + "label": "Choroid plexus calcification" + } + }, + { + "type": { + "id": "HP:0034282", + "label": "Subcutaneous ossification" + } + }, + { + "type": { + "id": "HP:0002684", + "label": "Thickened calvaria" + } + }, + { + "type": { + "id": "HP:0009439", + "label": "Short middle phalanx of the 3rd finger" + } + }, + { + "type": { + "id": "HP:0033331", + "label": "Acute phase response" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:103580", + "label": "Pseudohypoparathyroidism, type IA" + } + } + ], + "metaData": { + "created": "2024-06-11T19:15:41.214057Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"type": { + "id": "HP:0003165", + "label": "Elevated circulating parathyroid hormone level" + } + }, + { + "type": { + "id": "HP:0003456", + "label": "Low urinary cyclic AMP response to PTH administration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603233", + "label": "Pseudohypoparathyroidism, type IB" + } + } + ], + "metaData": { + "created": "2024-06-11T19:33:14.569124Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoparathyroidism_type_IC_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoparathyroidism_type_IC_patient_1.json new file mode 100644 index 000000000..309c0580b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoparathyroidism_type_IC_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "pseudohypoparathyroidism,_type_ic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0430048", + "label": "Intracranial calcification" + } + }, + { + "type": { + "id": "HP:0003026", + "label": "Short long bone" + } + }, + { + "type": { + "id": "HP:0000309", + "label": "Abnormal midface morphology" + } + }, + { + "type": { + "id": "HP:0003456", + "label": "Low urinary cyclic AMP response to PTH administration" + } + }, + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + }, + { + "type": { + "id": "HP:0000832", + "label": "Primary hypothyroidism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612462", + "label": "Pseudohypoparathyroidism, type IC" + } + } + ], + "metaData": { + "created": "2024-06-11T20:26:02.138856Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoparathyroidism_type_II_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoparathyroidism_type_II_patient_1.json new file mode 100644 index 000000000..0738c4c59 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudohypoparathyroidism_type_II_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "pseudohypoparathyroidism,_type_ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000852", + "label": "Pseudohypoparathyroidism" + } + }, + { + "type": { + "id": "HP:0003165", + "label": "Elevated circulating parathyroid hormone level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:203330", + "label": "Pseudohypoparathyroidism, type II" + } + } + ], + "metaData": { + "created": "2024-06-11T23:11:57.457015Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal defect" + } + }, + { + "type": { + "id": "HP:0004691", + "label": "2-3 toe syndactyly" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0001680", + "label": "Coarctation of aorta" + } + }, + { + "type": { + "id": "HP:0001674", + "label": "Complete atrioventricular canal defect" + } + }, + { + "type": { + "id": "HP:0002937", + "label": "Hemivertebrae" + } + }, + { + "type": { + "id": "HP:0000813", + "label": "Bicornuate uterus" + } + }, + { + "type": { + "id": "HP:0000161", + "label": "Median cleft upper lip" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0000358", + "label": "Posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0000089", + "label": "Renal hypoplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:264480", + "label": "Pseudotrisomy 13 syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:22:18.042447Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudouridinuria_and_mental_defect_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudouridinuria_and_mental_defect_patient_1.json new file mode 100644 index 000000000..cc7c13b93 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudouridinuria_and_mental_defect_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pseudouridinuria_and_mental_defect", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:264500", + "label": "Pseudouridinuria and mental defect" + } + } + ], + "metaData": { + "created": "2024-06-11T20:33:03.624915Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online 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{ + "id": "HP:0000032", + "label": "Abnormal male external genitalia morphology" + } + }, + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + }, + { + "type": { + "id": "HP:0000032", + "label": "Abnormal male external genitalia morphology" + } + }, + { + "type": { + "id": "HP:0000054", + "label": "Micropenis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:264600", + "label": "Pseudovaginal perineoscrotal hypospadias" + } + } + ], + "metaData": { + "created": "2024-06-11T18:32:58.067580Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudoxanthoma_elasticum_forme_fruste_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudoxanthoma_elasticum_forme_fruste_patient_1.json new file mode 100644 index 000000000..3e72c60c8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudoxanthoma_elasticum_forme_fruste_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "pseudoxanthoma_elasticum,_forme_fruste", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002239", + "label": "Gastrointestinal hemorrhage" + } + }, + { + "type": { + "id": "HP:0000592", + "label": "Blue sclerae" + } + }, + { + "type": { + "id": "HP:0005462", + "label": "Calcification of falx cerebri" + } + }, + { + "type": { + "id": "HP:0001342", + "label": "Cerebral hemorrhage" + } + }, + { + "type": { + "id": "HP:0000766", + "label": "Abnormal sternum morphology" + } + }, + { + "type": { + "id": "HP:0002634", + "label": "Arteriosclerosis" + } + }, + { + "type": { + "id": "HP:0008458", + "label": "Progressive congenital scoliosis" + } + }, + { + "type": { + "id": "HP:0012457", + "label": "Medial calcification of medium-sized arteries" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0008453", + "label": "Congenital kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0004966", + "label": "Medial calcification of large arteries" + } + }, + { + "type": { + "id": "HP:0025581", + "label": "Foveal hemorrhage" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:177850", + "label": "Pseudoxanthoma elasticum, forme fruste" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudoxanthoma_elasticum_like_disorder_with_multiple_coagulation_factor_deficiency_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "pseudoxanthoma_elasticum-like_disorder_with_multiple_coagulation_factor_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001102", + "label": "Angioid streaks of the fundus" + } + }, + { + "type": { + "id": "HP:0000421", + "label": "Epistaxis" + } + }, + { + "type": { + "id": "HP:0008151", + "label": "Prolonged prothrombin time" + } + }, + { + "type": { + "id": "HP:0011858", + "label": "Reduced factor IX activity" + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + }, + { + "type": { + "id": "HP:0008169", + "label": "Reduced factor VII activity" + } + }, + { + "type": { + "id": "HP:0025507", + "label": "Yellow papule" + } + }, + { + "type": { + "id": "HP:0033353", + "label": "Abnormal blood vessel morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610842", + "label": "Pseudoxanthoma elasticum-like disorder with multiple coagulation factor deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T20:20:44.844020Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudoxanthoma_elasticum_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudoxanthoma_elasticum_patient_1.json new file mode 100644 index 000000000..01b1ae65f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pseudoxanthoma_elasticum_patient_1.json @@ -0,0 +1,98 @@ +{ + "id": "pseudoxanthoma_elasticum", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P57Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012426", + "label": "Optic disc drusen" + } + }, + { + "type": { + "id": "HP:0002239", + "label": "Gastrointestinal hemorrhage" + } + }, + { + "type": { + "id": "HP:0004943", + "label": "Accelerated atherosclerosis" + } + }, + { + "type": { + "id": "HP:0001102", + "label": "Angioid streaks of the fundus" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + }, + { + "type": { + "id": "HP:0025115", + "label": "Civatte bodies" + } + }, + { + "type": { + "id": "HP:0033026", + "label": "White oral mucosal macule" + } + }, + { + "type": { + "id": "HP:0001681", + "label": "Angina pectoris" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:264800", + "label": "Pseudoxanthoma elasticum" + } + } + ], + "metaData": { + "created": "2024-06-11T22:43:12.453786Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Psoriasis_14_pustular_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Psoriasis_14_pustular_patient_1.json new file mode 100644 index 000000000..50c33c096 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Psoriasis_14_pustular_patient_1.json @@ -0,0 +1,98 @@ +{ + "id": "psoriasis_14,_pustular", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P69Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003765", + "label": "Psoriasiform dermatitis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + }, + { + "type": { + "id": "HP:0003765", + "label": "Psoriasiform dermatitis" + } + }, + { + "type": { + "id": "HP:0040009", + "label": "Hyperparakeratosis" + } + }, + { + "type": { + "id": "HP:0100828", + "label": "Increased T cell count" + } + }, + { + "type": { + "id": "HP:0025122", + "label": "Sawtooth acanthosis" + } + }, + { + "type": { + "id": "HP:0011227", + "label": "Elevated circulating C-reactive protein concentration" + } + }, + { + "type": { + "id": "HP:0410257", + "label": "Neutrophilia in presence of infection" + } + }, + { + "type": { + "id": "HP:0002711", + "label": "Exaggerated median tongue furrow" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614204", + "label": "Psoriasis 14, pustular" + } + } + ], + "metaData": { + "created": "2024-06-11T20:33:16.526453Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Psoriasis_15_pustular_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Psoriasis_15_pustular_susceptibility_to_patient_1.json new file mode 100644 index 000000000..230d8040e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Psoriasis_15_pustular_susceptibility_to_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "psoriasis_15,_pustular,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003765", + "label": "Psoriasiform dermatitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616106", + "label": "Psoriasis 15, pustular, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T17:58:51.456829Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Psoriasis_1_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Psoriasis_1_susceptibility_to_patient_1.json new file mode 100644 index 000000000..c2a3b5c09 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Psoriasis_1_susceptibility_to_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "psoriasis_1,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001803", + "label": "Nail pits" + } + }, + { + "type": { + "id": "HP:0005681", + "label": "Juvenile rheumatoid arthritis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:177900", + "label": "Psoriasis 1, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T22:31:50.472272Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Psoriasis_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Psoriasis_2_patient_1.json new file mode 100644 index 000000000..32eb42944 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Psoriasis_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "psoriasis_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602723", + "label": "Psoriasis 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:26:37.732282Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Psychomotor_retardation_epilepsy_and_craniofacial_dysmorphism_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Psychomotor_retardation_epilepsy_and_craniofacial_dysmorphism_patient_1.json new file mode 100644 index 000000000..562772f7c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Psychomotor_retardation_epilepsy_and_craniofacial_dysmorphism_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "psychomotor_retardation,_epilepsy,_and_craniofacial_dysmorphism", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": 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jaw" + } + }, + { + "type": { + "id": "HP:0007747", + "label": "Monocular horizontal nystagmus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614501", + "label": "Psychomotor retardation, epilepsy, and craniofacial dysmorphism" + } + } + ], + "metaData": { + "created": "2024-06-11T18:49:10.261836Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pterygia_mental_retardation_and_distinctive_craniofacial_features_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pterygia_mental_retardation_and_distinctive_craniofacial_features_patient_1.json new file mode 100644 index 000000000..ac66f2067 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pterygia_mental_retardation_and_distinctive_craniofacial_features_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "pterygia,_mental_retardation,_and_distinctive_craniofacial_features", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000243", + "label": "Trigonocephaly" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0001040", + "label": "Multiple pterygia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:177980", + "label": "Pterygia, mental retardation, and distinctive craniofacial features" + } + } + ], + "metaData": { + "created": "2024-06-11T19:09:00.919741Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pterygium_antecubital_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pterygium_antecubital_patient_1.json new file mode 100644 index 000000000..64fb2eb44 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pterygium_antecubital_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "pterygium,_antecubital", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001377", + "label": "Limited elbow extension" + } + }, + { + "type": { + "id": "HP:0005829", + "label": "Maldevelopment of radioulnar joint" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:178200", + "label": "Pterygium, antecubital" + } + } + ], + "metaData": { + "created": "2024-06-11T21:47:53.643521Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pterygium_colli_isolated_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pterygium_colli_isolated_patient_1.json new file mode 100644 index 000000000..12c93367a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pterygium_colli_isolated_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pterygium_colli,_isolated", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000411", + "label": "Protruding ear" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:177990", + "label": "Pterygium colli, isolated" + } + } + ], + "metaData": { + "created": "2024-06-11T17:55:26.768107Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pterygium_of_conjunctiva_and_cornea_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pterygium_of_conjunctiva_and_cornea_patient_1.json new file mode 100644 index 000000000..9b3c71f0e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pterygium_of_conjunctiva_and_cornea_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pterygium_of_conjunctiva_and_cornea", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000502", + "label": "Abnormal conjunctiva morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:178000", + "label": "Pterygium of conjunctiva and cornea" + } + } + ], + "metaData": { + "created": "2024-06-11T21:06:12.776866Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ptosis_hereditary_congenital_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ptosis_hereditary_congenital_1_patient_1.json new file mode 100644 index 000000000..8ac4b7225 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ptosis_hereditary_congenital_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ptosis,_hereditary_congenital_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007970", + "label": "Congenital ptosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:178300", + "label": "Ptosis, hereditary congenital 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:54:36.050544Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ptosis_hereditary_congenital_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ptosis_hereditary_congenital_2_patient_1.json new file mode 100644 index 000000000..973a27e3d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ptosis_hereditary_congenital_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ptosis,_hereditary_congenital_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300245", + "label": "Ptosis, hereditary congenital 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:50:49.608241Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ptosis_strabismus_and_ectopic_pupils_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ptosis_strabismus_and_ectopic_pupils_patient_1.json new file mode 100644 index 000000000..7be9a9714 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ptosis_strabismus_and_ectopic_pupils_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ptosis,_strabismus,_and_ectopic_pupils", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:178330", + "label": "Ptosis, strabismus, and ectopic pupils" + } + } + ], + "metaData": { + "created": "2024-06-11T19:11:59.077495Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pubic_bone_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pubic_bone_dysplasia_patient_1.json new file mode 100644 index 000000000..e485946bb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pubic_bone_dysplasia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pubic_bone_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000924", + "label": "Abnormality of the skeletal system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:178350", + "label": "Pubic bone dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T20:27:30.427264Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_alveolar_microlithiasis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_alveolar_microlithiasis_patient_1.json new file mode 100644 index 000000000..a0e7360b0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_alveolar_microlithiasis_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "pulmonary_alveolar_microlithiasis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0006520", + "label": "Progressive pulmonary function impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:265100", + "label": "Pulmonary alveolar microlithiasis" + } + } + ], + "metaData": { + "created": "2024-06-11T22:59:51.924153Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_alveolar_proteinosis_acquired_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_alveolar_proteinosis_acquired_patient_1.json new file mode 100644 index 000000000..a33f7cedc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_alveolar_proteinosis_acquired_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "pulmonary_alveolar_proteinosis,_acquired", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002091", + "label": "Restrictive ventilatory defect" + } + }, + { + "type": { + "id": "HP:0000961", + "label": "Cyanosis" + } + }, + { + "type": { + "id": "HP:0020050", + "label": "Anti-granulocyte-macrophage colony stimulating factor antibody positivity" + } + }, + { + "type": { + "id": "HP:0002105", + "label": "Hemoptysis" + } + }, + { + "type": { + "id": "HP:0002205", + "label": "Recurrent respiratory infections" + } + }, + { + "type": { + "id": "HP:0031996", + "label": "Inspiratory crackles" + } + }, + { + "type": { + "id": "HP:0012735", + "label": "Cough" + } + }, + { + "type": { + "id": "HP:0006517", + "label": "Intraalveolar phospholipid accumulation" + } + }, + { + "type": { + "id": "HP:0033214", + "label": "Recurrent viral pneumonia" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610910", + "label": "Pulmonary alveolar proteinosis, acquired" + } + } + ], + "metaData": { + "created": "2024-06-11T21:17:24.015643Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_alveolar_proteinosis_with_hypogammaglobulinemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_alveolar_proteinosis_with_hypogammaglobulinemia_patient_1.json new file mode 100644 index 000000000..a4dcafa56 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_alveolar_proteinosis_with_hypogammaglobulinemia_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "pulmonary_alveolar_proteinosis_with_hypogammaglobulinemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004313", + "label": "Decreased circulating antibody level" + } + }, + { + "type": { + "id": "HP:0002093", + "label": "Respiratory insufficiency" + } + }, + { + "type": { + "id": "HP:0004880", + "label": "Respiratory infections in early life" + } + }, + { + "type": { + "id": "HP:0006517", + "label": "Intraalveolar phospholipid accumulation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618042", + "label": "Pulmonary alveolar proteinosis with hypogammaglobulinemia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:06:06.648083Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_atresia_with_intact_ventricular_septum_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_atresia_with_intact_ventricular_septum_patient_1.json new file mode 100644 index 000000000..f96d0892e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_atresia_with_intact_ventricular_septum_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pulmonary_atresia_with_intact_ventricular_septum", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010954", + "label": "Hypoplastic right heart" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:265150", + "label": "Pulmonary atresia with intact ventricular septum" + } + } + ], + "metaData": { + "created": "2024-06-11T20:34:24.849077Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_atresia_with_ventricular_septal_defect_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_atresia_with_ventricular_septal_defect_patient_1.json new file mode 100644 index 000000000..3910d2916 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_atresia_with_ventricular_septal_defect_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pulmonary_atresia_with_ventricular_septal_defect", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004935", + "label": "Pulmonary artery atresia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:178370", + "label": "Pulmonary atresia with ventricular septal defect" + } + } + ], + "metaData": { + "created": "2024-06-11T22:01:32.256341Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_bullae_causing_pneumothorax_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_bullae_causing_pneumothorax_patient_1.json new file mode 100644 index 000000000..aecfa888f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_bullae_causing_pneumothorax_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pulmonary_bullae_causing_pneumothorax", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006522", + "label": "Repeated pneumothoraces" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:265200", + "label": "Pulmonary bullae causing pneumothorax" + } + } + ], + "metaData": { + "created": "2024-06-11T21:03:26.770486Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_disease_chronic_obstructive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_disease_chronic_obstructive_patient_1.json new file mode 100644 index 000000000..647eab9a3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_disease_chronic_obstructive_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pulmonary_disease,_chronic_obstructive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006510", + "label": "Chronic pulmonary obstruction" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606963", + "label": "Pulmonary disease, chronic obstructive" + } + } + ], + "metaData": { + "created": "2024-06-11T21:43:38.065107Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_edema_of_mountaineers_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_edema_of_mountaineers_patient_1.json new file mode 100644 index 000000000..9d1c8028a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_edema_of_mountaineers_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pulmonary_edema_of_mountaineers", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000969", + "label": "Edema" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:178400", + "label": "Pulmonary edema of mountaineers" + } + } + ], + "metaData": { + "created": "2024-06-11T22:28:34.602940Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_fibrosis_and_or_bone_marrow_failure_syndrome_telomere_related_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_fibrosis_and_or_bone_marrow_failure_syndrome_telomere_related_7_patient_1.json new file mode 100644 index 000000000..3ae619242 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_fibrosis_and_or_bone_marrow_failure_syndrome_telomere_related_7_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "pulmonary_fibrosis_and/or_bone_marrow_failure_syndrome,_telomere-related,_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001888", + "label": "Lymphopenia" + } + }, + { + "type": { + "id": "HP:0002216", + "label": "Premature graying of hair" + } + }, + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0004349", + "label": "Reduced bone mineral density" + } + }, + { + "type": { + "id": "HP:0012741", + "label": "Unilateral cryptorchidism" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0008404", + "label": "Nail dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620365", + "label": "Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 7" + } + } + ], + "metaData": { + "created": "2024-06-11T20:01:41.794412Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_fibrosis_and_or_bone_marrow_failure_syndrome_telomere_related_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_fibrosis_and_or_bone_marrow_failure_syndrome_telomere_related_8_patient_1.json new file mode 100644 index 000000000..c77e8206a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_fibrosis_and_or_bone_marrow_failure_syndrome_telomere_related_8_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "pulmonary_fibrosis_and/or_bone_marrow_failure_syndrome,_telomere-related,_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0011875", + "label": 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"pulmonary_fibrosis_and/or_bone_marrow_failure_syndrome,_telomere-related,_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031413", + "label": "Short telomere length" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620400", + "label": "Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 9" + } + } + ], + "metaData": { + "created": "2024-06-11T19:35:26.979034Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_1_patient_1.json new file mode 100644 index 000000000..61233fdc8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_1_patient_1.json @@ -0,0 +1,128 @@ +{ + "id": "pulmonary_fibrosis_and/or_bone_marrow_failure,_telomere-related,_1", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P45Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030830", + "label": "Crackles" + } + }, + { + "type": { + "id": "HP:0025390", + "label": "Reticular pattern on pulmonary HRCT" + } + }, + { + "type": { + "id": "HP:0001915", + "label": "Aplastic anemia" + } + }, + { + "type": { 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mode 100644 index 000000000..ab48e5066 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pulmonary_fibrosis_and/or_bone_marrow_failure,_telomere-related,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001394", + "label": "Cirrhosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614743", + "label": "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:26:36.204996Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_3_patient_1.json new file mode 100644 index 000000000..2c848aeca --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pulmonary_fibrosis_and/or_bone_marrow_failure,_telomere-related,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002206", + "label": "Pulmonary fibrosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616373", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_4_patient_1.json new file mode 100644 index 000000000..ba0de3b91 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_4_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "pulmonary_fibrosis_and/or_bone_marrow_failure,_telomere-related,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032341", + "label": "Reduced forced vital capacity" + } + }, + { + "type": { + "id": "HP:0032358", + "label": "Decreased post-bronchodilator forced expiratory volume in one second" + } + }, + { + "type": { + "id": "HP:0550005", + "label": "Bilateral basilar pulmonary fibrosis" + } + }, + { + "type": { + "id": "HP:0045051", + "label": "Decreased DLCO" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616371", + "label": "Pulmonary fibrosis and/or bone marrow 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000000000..07ceb2b90 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_fibrosis_and_or_bone_marrow_failure_telomere_related_5_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "pulmonary_fibrosis_and/or_bone_marrow_failure,_telomere-related,_5", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P61Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031413", + "label": "Short telomere length" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618674", + "label": "Pulmonary fibrosis and/or bone marrow failure, telomere-related, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T19:15:03.532603Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0002088", + "label": "Abnormal lung morphology" + } + }, + { + "type": { + "id": "HP:0031950", + "label": "Usual interstitial pneumonia" + } + }, + { + "type": { + "id": "HP:0006519", + "label": "Alveolar cell carcinoma" + } + }, + { + "type": { + "id": "HP:0410369", + "label": "Increased hepatitis B virus antibody level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:178500", + "label": "Pulmonary fibrosis, idiopathic" + } + } + ], + "metaData": { + "created": "2024-06-11T23:53:26.437556Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_hemosiderosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_hemosiderosis_patient_1.json new file mode 100644 index 000000000..05894ce34 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_hemosiderosis_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "pulmonary_hemosiderosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001891", + "label": "Iron deficiency anemia" + } + }, + { + "type": { + "id": "HP:0002105", + "label": "Hemoptysis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:178550", + "label": "Pulmonary hemosiderosis" + } + } + ], + "metaData": { + "created": "2024-06-11T19:43:25.139869Z", + "createdBy": "phenotype2phenopacket", + 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{ + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012735", + "label": "Cough" + } + }, + { + "type": { + "id": "HP:0000822", + "label": "Hypertension" + } + }, + { + "type": { + "id": "HP:0011353", + "label": "Arterial intimal fibrosis" + } + }, + { + "type": { + "id": "HP:0033423", + "label": "Pulmonary arterial hypertension with positive acute response to NO challenge" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:178600", + "label": "Pulmonary hypertension, primary, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:59:04.169193Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_hypertension_primary_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_hypertension_primary_2_patient_1.json new file mode 100644 index 000000000..89e021111 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_hypertension_primary_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pulmonary_hypertension,_primary,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005317", + "label": "Increased pulmonary vascular resistance" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615342", + "label": "Pulmonary hypertension, primary, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:21:57.295980Z", + "createdBy": 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"pulmonary_hypertension,_primary,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005317", + "label": "Increased pulmonary vascular resistance" + } + }, + { + "type": { + "id": "HP:0002793", + "label": "Abnormal pattern of respiration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615343", + "label": "Pulmonary hypertension, primary, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T18:17:19.992890Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_hypertension_primary_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_hypertension_primary_4_patient_1.json new file mode 100644 index 000000000..529e4991d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_hypertension_primary_4_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "pulmonary_hypertension,_primary,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004890", + "label": "Elevated pulmonary artery pressure" + } + }, + { + "type": { + "id": "HP:0033424", + "label": "Pulmonary arterial hypertension with lack of acute response to NO challenge" + } + }, + { + "type": { + "id": "HP:0005317", + "label": "Increased pulmonary vascular resistance" + } + }, + { + "type": { + "id": "HP:0031546", + "label": "Cardiac conduction abnormality" + } + }, + { + "type": { + "id": "HP:0004890", + "label": "Elevated pulmonary artery pressure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615344", + "label": "Pulmonary hypertension, primary, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T19:14:48.376292Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_hypertension_primary_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_hypertension_primary_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..f8147c1d6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_hypertension_primary_autosomal_recessive_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "pulmonary_hypertension,_primary,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012431", + "label": "Episodic fatigue" + } + }, + { + "type": { + "id": "HP:0003722", + "label": "Neck flexor weakness" + } + }, + { + "type": { + "id": "HP:0001681", + "label": "Angina pectoris" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:265400", + "label": "Pulmonary hypertension, primary, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T21:59:54.267656Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"HP:0002089", + "label": "Pulmonary hypoplasia" + }, + "modifiers": [ + { + "id": "HP:0012832", + "label": "Bilateral" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:265430", + "label": "Pulmonary hypoplasia, primary" + } + } + ], + "metaData": { + "created": "2024-06-11T19:57:07.222054Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_venoocclusive_disease_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_venoocclusive_disease_1_patient_1.json new file mode 100644 index 000000000..0ab02cc95 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonary_venoocclusive_disease_1_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "pulmonary_venoocclusive_disease_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025180", + "label": "Centrilobular ground-glass opacification on pulmonary HRCT" + } + }, + { + "type": { + "id": "HP:0031687", + "label": "Abnormally loud pulmonic component of the second heart sound" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:265450", + "label": "Pulmonary venoocclusive disease 1" + } + } + ], + "metaData": { + "created": "2024-06-11T17:53:57.085217Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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"type": { + "id": "HP:0045051", + "label": "Decreased DLCO" + } + }, + { + "type": { + "id": "HP:0025180", + "label": "Centrilobular ground-glass opacification on pulmonary HRCT" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:234810", + "label": "Pulmonary venoocclusive disease 2" + } + } + ], + "metaData": { + "created": "2024-06-11T17:55:01.267083Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonic_stenosis_and_deafness_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonic_stenosis_and_deafness_patient_1.json new file mode 100644 index 000000000..2ad1870e4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonic_stenosis_and_deafness_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pulmonic_stenosis_and_deafness", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001714", + "label": "Ventricular hypertrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:178651", + "label": "Pulmonic stenosis and deafness" + } + } + ], + "metaData": { + "created": "2024-06-11T17:59:56.758899Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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"subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001684", + "label": "Secundum atrial septal defect" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:178650", + "label": "Pulmonic stenosis, atrial septal defect, and unique electrocardiographicabnormalities" + } + } + ], + "metaData": { + "created": "2024-06-11T17:51:47.418158Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonic_stenosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonic_stenosis_patient_1.json new file mode 100644 index 000000000..80f7f5425 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pulmonic_stenosis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "pulmonic_stenosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001642", + "label": "Pulmonic stenosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:265500", + "label": "Pulmonic stenosis" + } + } + ], + "metaData": { + "created": "2024-06-11T23:56:18.589479Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": 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+ "created": "2024-06-11T18:12:39.528115Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pycnodysostosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pycnodysostosis_patient_1.json new file mode 100644 index 000000000..c305b0b0b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pycnodysostosis_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "pycnodysostosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0000448", + "label": "Prominent nose" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0002688", + "label": "Absent frontal sinuses" + } + }, + { + "type": { + "id": "HP:0000163", + "label": "Abnormal oral cavity morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:265800", + "label": "Pycnodysostosis" + } + } + ], + "metaData": { + "created": "2024-06-11T20:03:56.020254Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pyruvate_dehydrogenase_e3_binding_protein_deficiency_patient_1.json new file mode 100644 index 000000000..6380968a0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pyruvate_dehydrogenase_e3_binding_protein_deficiency_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "pyruvate_dehydrogenase_e3-binding_protein_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003542", + "label": "Increased serum pyruvate" + } + }, + { + "type": { + "id": "HP:0001258", + "label": "Spastic paraplegia" + } + }, + { + "type": { + "id": "HP:0006962", + "label": "Gait instability, worse in the dark" + } + }, + { + "type": { + "id": "HP:0002075", + "label": "Dysdiadochokinesis" + } + }, + { + "type": { + "id": "HP:0000537", + "label": "Epicanthus inversus" + } + }, + { + "type": { + "id": "HP:0007370", + "label": "Aplasia/Hypoplasia of the corpus callosum" + } + }, + { + "type": { + 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"iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pyruvate_dehydrogenase_phosphatase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pyruvate_dehydrogenase_phosphatase_deficiency_patient_1.json new file mode 100644 index 000000000..90a3ed897 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pyruvate_dehydrogenase_phosphatase_deficiency_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "pyruvate_dehydrogenase_phosphatase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002928", + "label": "Decreased activity of the pyruvate dehydrogenase complex" + } + }, + { + "type": { + "id": "HP:0011471", + "label": "Gastrostomy tube feeding in infancy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608782", + "label": "Pyruvate dehydrogenase phosphatase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T21:43:52.411017Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Pyruvate_kinase_deficiency_of_red_cells_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pyruvate_kinase_deficiency_of_red_cells_patient_1.json new file mode 100644 index 000000000..27409b8fe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Pyruvate_kinase_deficiency_of_red_cells_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "pyruvate_kinase_deficiency_of_red_cells", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001790", + "label": "Nonimmune hydrops fetalis" + } + }, + { + "type": { + "id": "HP:0001396", + "label": "Cholestasis" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0025408", + "label": "Abnormal spleen morphology" + } + }, + { + "type": { + "id": "HP:0020062", + "label": "Decreased hemoglobin concentration" + } + }, + { + "type": { + "id": "HP:0001017", + "label": "Anemic pallor" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:6000455", + "label": "Ectopic gallstone" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:266200", + "label": "Pyruvate kinase deficiency of red cells" + } + } + ], + "metaData": { + "created": "2024-06-11T18:52:21.945616Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Quebec_platelet_disorder_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Quebec_platelet_disorder_patient_1.json new file mode 100644 index 000000000..f04ed9f28 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Quebec_platelet_disorder_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "quebec_platelet_disorder", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0011869", + "label": "Abnormal platelet function" + } + }, + { + "type": { + "id": "HP:0004406", + "label": "Spontaneous, recurrent epistaxis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601709", + "label": "Quebec platelet disorder" + } + } + ], + "metaData": { + "created": "2024-06-11T19:18:20.450656Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Question_mark_ears_isolated_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Question_mark_ears_isolated_patient_1.json new file mode 100644 index 000000000..fb40f6c81 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Question_mark_ears_isolated_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "question_mark_ears,_isolated", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030022", + "label": "Question mark ear" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612798", + "label": "Question mark ears, isolated" + } + } + ], + "metaData": { + "created": "2024-06-11T18:25:46.786024Z", + "createdBy": 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0000276", + "label": "Long face" + } + }, + { + "type": { + "id": "HP:0005198", + "label": "Stiff interphalangeal joints" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0006434", + "label": "Hypoplasia of proximal radius" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:266280", + "label": "RAPADILINO syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:56:37.316757Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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+ { + "type": { + "id": "HP:0011875", + "label": "Abnormal platelet morphology" + } + }, + { + "type": { + "id": "HP:0410042", + "label": "Abnormal liver morphology" + } + }, + { + "type": { + "id": "HP:0032265", + "label": "CSF autoimmune antibody positivity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614470", + "label": "RAS-associated autoimmune lymphoproliferative syndrome type IV, somatic" + } + } + ], + "metaData": { + "created": "2024-06-11T18:28:28.792527Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/RECON_progeroid_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/RECON_progeroid_syndrome_patient_1.json new file mode 100644 index 000000000..d68b817dc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/RECON_progeroid_syndrome_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "recon_progeroid_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000418", + "label": "Narrow nasal ridge" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0010759", + "label": "Prominence of the premaxilla" + } + }, + { + "type": { + "id": "HP:0001166", + "label": "Arachnodactyly" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0008346", + "label": "Increased red cell sickling tendency" + } + }, + { + "type": { + "id": "HP:0000422", + "label": "Abnormal nasal bridge morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620370", + "label": "RECON progeroid syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:59:03.160901Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/RETINITIS_PIGMENTOSA_Y_LINKED_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/RETINITIS_PIGMENTOSA_Y_LINKED_patient_1.json new file mode 100644 index 000000000..01599c2da --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/RETINITIS_PIGMENTOSA_Y_LINKED_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "retinitis_pigmentosa,_y-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:400004", + "label": "RETINITIS PIGMENTOSA, Y-LINKED" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:09.397829Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/RETINOBLASTOMA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/RETINOBLASTOMA_patient_1.json new file mode 100644 index 000000000..754d2a30d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/RETINOBLASTOMA_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "retinoblastoma", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002669", + "label": "Osteosarcoma" + } + }, + { + "type": { + "id": "HP:0007862", + "label": "Retinal calcification" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:180200", + "label": "RETINOBLASTOMA" + } + } + ], + "metaData": { + "created": "2024-06-11T19:44:48.306616Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/RHINY_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/RHINY_patient_1.json new file mode 100644 index 000000000..8e789e509 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/RHINY_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "rhiny", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0010282", + "label": "Thin lower lip vermilion" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:180360", + "label": "RHINY" + } + } + ], + "metaData": { + "created": "2024-06-11T19:36:23.886555Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Rabin_Pappas_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rabin_Pappas_syndrome_patient_1.json new file mode 100644 index 000000000..305314116 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rabin_Pappas_syndrome_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "rabin-pappas_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002553", + "label": "Highly arched eyebrow" + } + }, + { + "type": { + "id": "HP:0000629", + "label": "Periorbital fullness" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0007763", + "label": "Retinal telangiectasia" + } + }, + { + "type": { + "id": "HP:0012110", + "label": "Hypoplasia of the pons" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000455", + "label": "Broad nasal tip" + } + }, + { + "type": { + "id": "HP:0009765", + "label": "Low hanging columella" + } + }, + { + "type": { + "id": "HP:0011821", + "label": "Abnormal facial skeleton morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620155", + "label": "Rabin-Pappas syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:24:21.609464Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Radial_Renal_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Radial_Renal_syndrome_patient_1.json new file mode 100644 index 000000000..da7ebcd39 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Radial_Renal_syndrome_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "radial-renal_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0002973", + "label": "Abnormal forearm morphology" + }, + "modifiers": [ + { + "id": "HP:0012832", + "label": "Bilateral" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:179280", + "label": "Radial-Renal syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:18:34.490466Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Radial_aplasia_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Radial_aplasia_X_linked_patient_1.json new file mode 100644 index 000000000..4aa11691e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Radial_aplasia_X_linked_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "radial_aplasia,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003974", + "label": "Absent radius" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:312190", + "label": "Radial aplasia, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T18:42:08.011387Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Radial_heads_posterior_dislocation_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Radial_heads_posterior_dislocation_of_patient_1.json new file mode 100644 index 000000000..25cc5555f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Radial_heads_posterior_dislocation_of_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "radial_heads,_posterior_dislocation_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001377", + "label": "Limited elbow extension" + } + }, + { + "type": { + "id": "HP:0009760", + "label": "Antecubital pterygium" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:179200", + "label": "Radial heads, posterior dislocation of" + } + } + ], + "metaData": { + "created": "2024-06-11T17:52:12.990882Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Radial_hypoplasia_triphalangeal_thumbs_hypospadias_and_maxillarydiastema_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Radial_hypoplasia_triphalangeal_thumbs_hypospadias_and_maxillarydiastema_patient_1.json new file mode 100644 index 000000000..47fa8c019 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Radial_hypoplasia_triphalangeal_thumbs_hypospadias_and_maxillarydiastema_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "radial_hypoplasia,_triphalangeal_thumbs,_hypospadias,_and_maxillarydiastema", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002984", + "label": "Hypoplasia of the radius" + } + }, + { + "type": { + "id": "HP:0001199", + "label": "Triphalangeal thumb" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:179250", + "label": "Radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillarydiastema" + } + } + ], + "metaData": { + "created": "2024-06-11T21:59:03.517526Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Radial_ray_hypoplasia_with_choanal_atresia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Radial_ray_hypoplasia_with_choanal_atresia_patient_1.json new file mode 100644 index 000000000..e219517c3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Radial_ray_hypoplasia_with_choanal_atresia_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "radial_ray_hypoplasia_with_choanal_atresia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009622", + "label": "Distally placed thumb" + } + }, + { + "type": { + "id": "HP:0000453", + "label": "Choanal atresia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:179270", + "label": "Radial ray hypoplasia with choanal atresia" + } + } + ], + "metaData": { + "created": "2024-06-11T20:32:19.963259Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Radiation_sensitivity_of_natural_killer_activity_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Radiation_sensitivity_of_natural_killer_activity_patient_1.json new file mode 100644 index 000000000..9dc8f2007 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Radiation_sensitivity_of_natural_killer_activity_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "radiation_sensitivity_of_natural_killer_activity", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002715", + "label": "Abnormality of the immune system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:312210", + "label": "Radiation sensitivity of natural killer activity" + } + } + ], + "metaData": { + "created": "2024-06-11T23:35:14.363644Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Radiculoneuropathy_fatal_neonatal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Radiculoneuropathy_fatal_neonatal_patient_1.json new file mode 100644 index 000000000..d87d9607d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Radiculoneuropathy_fatal_neonatal_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "radiculoneuropathy,_fatal_neonatal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002028", + "label": "Chronic diarrhea" + } + }, + { + "type": { + "id": "HP:0009113", + "label": "Diaphragmatic weakness" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:266250", + "label": "Radiculoneuropathy, fatal neonatal" + } + } + ], + "metaData": { + "created": "2024-06-11T21:22:51.465047Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Radio_Tartaglia_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Radio_Tartaglia_syndrome_patient_1.json new file mode 100644 index 000000000..b285c24c1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Radio_Tartaglia_syndrome_patient_1.json @@ -0,0 +1,219 @@ +{ + "id": "radio-tartaglia_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001182", + "label": "Tapered finger" + } + }, + { + "type": { + "id": "HP:0002705", + "label": "High, narrow palate" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0000294", + "label": "Low anterior hairline" + } + }, + { + "type": { + "id": "HP:0002019", + "label": "Constipation" + } + }, + { + "type": { + "id": "HP:0000286", + "label": "Epicanthus" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long 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"HP:0011461", + "label": "Fetal onset" + } + } + }, + { + "type": { + "id": "HP:0100729", + "label": "Large face" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:5200284", + "label": "Bruxism during sleep" + } + }, + { + "type": { + "id": "HP:0002197", + "label": "Generalized-onset seizure" + } + }, + { + "type": { + "id": "HP:0000958", + "label": "Dry skin" + } + }, + { + "type": { + "id": "HP:0000753", + "label": "Autism with high cognitive abilities" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0000154", + "label": "Wide mouth" + } + }, + { + "type": { + "id": "HP:0009890", + "label": "High anterior hairline" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619312", + "label": "Radio-Tartaglia syndrome" + } + } + ], + "metaData": { 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"id": "radioulnar_synostosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002974", + "label": "Radioulnar synostosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:179300", + "label": "Radioulnar synostosis" + } + } + ], + "metaData": { + "created": "2024-06-11T19:52:33.933767Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Radioulnar_synostosis_unilateral_with_developmental_retardationand_hypotonia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Radioulnar_synostosis_unilateral_with_developmental_retardationand_hypotonia_patient_1.json new file mode 100644 index 000000000..f8cc4cf7d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Radioulnar_synostosis_unilateral_with_developmental_retardationand_hypotonia_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "radioulnar_synostosis,_unilateral,_with_developmental_retardationand_hypotonia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000268", + "label": "Dolichocephaly" + } + }, + { + "type": { + "id": "HP:0000276", + "label": "Long face" + } + }, + { + "type": { + "id": "HP:0011344", + "label": "Severe global developmental delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:266255", + "label": "Radioulnar synostosis, unilateral, with developmental retardationand hypotonia" + } + } + ], + "metaData": { + "created": "2024-06-11T22:35:51.671914Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Radioulnar_synostosis_with_amegakaryocytic_thrombocytopenia_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Radioulnar_synostosis_with_amegakaryocytic_thrombocytopenia_2_patient_1.json new file mode 100644 index 000000000..748f0887f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Radioulnar_synostosis_with_amegakaryocytic_thrombocytopenia_2_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "radioulnar_synostosis_with_amegakaryocytic_thrombocytopenia_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009295", + "label": "Short middle phalanx of the 4th finger" + } + }, + { + "type": { + "id": "HP:0001789", + "label": "Hydrops fetalis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + }, + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0002974", + "label": "Radioulnar synostosis" + } 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"reese_retinal_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007968", + "label": "Remnants of the hyaloid vascular system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:266400", + "label": "Reese retinal dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:00:58.804705Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Refsum_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Refsum_disease_patient_1.json new file mode 100644 index 000000000..5aa92d4c2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Refsum_disease_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "refsum_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008064", + "label": "Ichthyosis" + } + }, + { + "type": { + "id": "HP:0003690", + "label": "Limb muscle weakness" + } + }, + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0001635", + "label": "Congestive heart failure" + } + }, + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0003474", + "label": "Somatic sensory dysfunction" + } + }, + { + "type": { + "id": "HP:4000163", + "label": "Reduced phytanic acid oxidase activity in cultured fibroblasts" + } + }, + { + "type": { + "id": "HP:0000556", + "label": "Retinal dystrophy" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0002277", + "label": "Horner syndrome" + } + }, + { + "type": { + "id": "HP:0000458", + "label": "Anosmia" + } + }, + { + "type": { + "id": "HP:0004689", + "label": "Short fourth metatarsal" + } + }, + { + "type": { + "id": "HP:0011675", + "label": "Arrhythmia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:266500", + "label": "Refsum disease" + } + } + ], + "metaData": { + "created": "2024-06-11T20:09:22.954506Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Reifenstein_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Reifenstein_syndrome_patient_1.json new file mode 100644 index 000000000..9e7db5fe5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Reifenstein_syndrome_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "reifenstein_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012741", + "label": "Unilateral cryptorchidism" + } + }, + { + "type": { + "id": "HP:0000054", + "label": "Micropenis" + } + }, + { + "type": { + "id": "HP:0001555", + "label": "Asymmetry of the thorax" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0000051", + "label": "Perineal hypospadias" + } + }, + { + "type": { + "id": "HP:0000135", + "label": "Hypogonadism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:312300", + "label": "Reifenstein syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:18:07.242970Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_Hepatic_Pancreatic_dysplasia_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_Hepatic_Pancreatic_dysplasia_2_patient_1.json new file mode 100644 index 000000000..849355a1d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_Hepatic_Pancreatic_dysplasia_2_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "renal-hepatic-pancreatic_dysplasia_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0001562", + "label": "Oligohydramnios" + } + }, + { + "type": { + "id": "HP:0002280", + "label": "Enlarged cisterna magna" + } + }, + { + "type": { + "id": "HP:0001407", + "label": "Hepatic cysts" + } + }, + { + "type": { + "id": "HP:0006563", + "label": "Malformation of the hepatic ductal plate" + } + }, + { + "type": { + "id": "HP:0000800", + "label": "Cystic renal dysplasia" + } + }, + { + "type": { + "id": "HP:0001746", + "label": "Asplenia" + } + }, + { + "type": { + "id": "HP:0002088", + "label": "Abnormal lung morphology" + } + }, + { + "type": { + "id": "HP:0040069", + "label": "Abnormal lower limb bone morphology" + } + }, + { + "type": { + "id": "HP:0011609", + "label": "Type III truncus arteriosus" + } + }, + { + "type": { + "id": "HP:0410042", + "label": "Abnormal liver morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615415", + "label": "Renal-Hepatic-Pancreatic dysplasia 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:39:16.335716Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_and_mullerian_duct_hypoplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_and_mullerian_duct_hypoplasia_patient_1.json new file mode 100644 index 000000000..8dc3f8284 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_and_mullerian_duct_hypoplasia_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "renal_and_mullerian_duct_hypoplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000085", + "label": "Horseshoe kidney" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0008648", + "label": "Anteriorly displaced urethral meatus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:266810", + "label": "Renal and mullerian duct hypoplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T22:53:55.633182Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_cell_carcinoma_nonpapillary_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_cell_carcinoma_nonpapillary_patient_1.json new file mode 100644 index 000000000..aba93c16c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_cell_carcinoma_nonpapillary_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "renal_cell_carcinoma,_nonpapillary", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005584", + "label": "Renal cell carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:144700", + "label": "Renal cell carcinoma, nonpapillary" + } + } + ], + "metaData": { + "created": "2024-06-11T21:54:06.221931Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_cell_carcinoma_papillary_1_familial_and_somatic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_cell_carcinoma_papillary_1_familial_and_somatic_patient_1.json new file mode 100644 index 000000000..d6213e168 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_cell_carcinoma_papillary_1_familial_and_somatic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "renal_cell_carcinoma,_papillary,_1,_familial_and_somatic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006766", + "label": "Papillary renal cell carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605074", + "label": "Renal cell carcinoma, papillary, 1, familial and somatic" + } + } + ], + "metaData": { + "created": "2024-06-11T22:15:14.790434Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_cell_carcinoma_xp11_associated_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_cell_carcinoma_xp11_associated_patient_1.json new file mode 100644 index 000000000..f7dad4d8c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_cell_carcinoma_xp11_associated_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "renal_cell_carcinoma,_xp11-associated", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005584", + "label": "Renal cell carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300854", + "label": "Renal cell carcinoma, xp11-associated" + } + } + ], + "metaData": { + "created": "2024-06-11T21:44:48.262637Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_cysts_and_diabetes_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_cysts_and_diabetes_syndrome_patient_1.json new file mode 100644 index 000000000..e2ddf9d41 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_cysts_and_diabetes_syndrome_patient_1.json @@ -0,0 +1,152 @@ +{ + "id": "renal_cysts_and_diabetes_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P70Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000107", + "label": "Renal cyst" + } + }, + { + "type": { + "id": "HP:0003076", + "label": "Glycosuria" + } + }, + { + "type": { + "id": "HP:0002594", + "label": "Pancreatic hypoplasia" + } + }, + { + "type": { + "id": "HP:0001738", + "label": "Exocrine pancreatic insufficiency" + } + }, + { + "type": { + "id": "HP:6000156", + "label": "Pancreatic atrophy" + } + }, + { + "type": { + "id": "HP:0004904", + "label": "Maturity-onset diabetes of the young" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + }, + { + "type": { + "id": "HP:0100611", + "label": "Multiple glomerular cysts" + } + }, + { + "type": { + "id": "HP:0002120", + "label": "Cerebral cortical atrophy" + } + }, + { + "type": { + "id": "HP:0000089", + "label": "Renal hypoplasia" + } + }, + { + "type": { + "id": "HP:0002910", + "label": "Elevated circulating hepatic transaminase concentration" + } + }, + { + "type": { + "id": "HP:0030997", + "label": "Atretic vas deferens" + } + }, + { + "type": { + "id": "HP:0000074", + "label": "Ureteropelvic junction obstruction" + } + }, + { + "type": { + "id": "HP:0033020", + "label": "Female reproductive system neoplasm" + } + }, + { + "type": { + "id": "HP:0004379", + "label": "Abnormality of alkaline phosphatase level" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0000077", + "label": "Abnormality of the kidney" + } + }, + { + "type": { + "id": "HP:0012874", + "label": "Abnormal male reproductive system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:137920", + "label": "Renal cysts and diabetes syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:36:35.646361Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_dysplasia_cystic_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_dysplasia_cystic_susceptibility_to_patient_1.json new file mode 100644 index 000000000..63dde783d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_dysplasia_cystic_susceptibility_to_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "renal_dysplasia,_cystic,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000083", + "label": "Renal insufficiency" + } + }, + { + "type": { + "id": "HP:0000800", + "label": "Cystic renal dysplasia" + } + }, + { + "type": { + "id": "HP:0012582", + "label": "Bilateral renal dysplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601331", + "label": "Renal dysplasia, cystic, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T19:14:38.332329Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_failure_progressive_with_hypertension_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_failure_progressive_with_hypertension_patient_1.json new file mode 100644 index 000000000..ac31aa045 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_failure_progressive_with_hypertension_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "renal_failure,_progressive,_with_hypertension", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003259", + "label": "Elevated circulating creatinine concentration" + } + }, + { + "type": { + "id": "HP:0002907", + "label": "Microscopic hematuria" + } + }, + { + "type": { + "id": "HP:0030972", + "label": "Abnormal systemic blood pressure" + } + }, + { + "type": { + "id": "HP:0012622", + "label": "Chronic kidney disease" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:161900", + "label": "Renal failure, progressive, with hypertension" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:30.369847Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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000000000..d201bf9c7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_glucosuria_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "renal_glucosuria", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000103", + "label": "Polyuria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:233100", + "label": "Renal glucosuria" + } + } + ], + "metaData": { + "created": "2024-06-11T20:30:24.692072Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_hepatic_pancreatic_dysplasia_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_hepatic_pancreatic_dysplasia_1_patient_1.json new file mode 100644 index 000000000..72f44853f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_hepatic_pancreatic_dysplasia_1_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "renal-hepatic-pancreatic_dysplasia_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal defect" + } + }, + { + "type": { + "id": "HP:0001394", + "label": "Cirrhosis" + } + }, + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + } + }, + { + "type": { + "id": "HP:0001305", + "label": "Dandy-Walker malformation" + } + }, + { + "type": { + "id": "HP:0000105", + "label": "Enlarged kidney" + } + }, + { + "type": { + "id": "HP:0001746", + "label": "Asplenia" + } + }, + { + "type": { + "id": "HP:0011648", + "label": "Patent ductus arteriosus after birth at term" + } + }, + { + "type": { + "id": "HP:0006564", + "label": "Fluctuating hepatomegaly" + } + }, + { + "type": { + "id": "HP:0001396", + "label": "Cholestasis" + } + }, + { + "type": { + "id": "HP:0001407", + "label": "Hepatic cysts" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:208540", + "label": "Renal-hepatic-pancreatic dysplasia 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:07:18.105911Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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"id": "HP:0025700", + "label": "Anhydramnios" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:191830", + "label": "Renal hypodysplasia/aplasia 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:01:01.300934Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_hypodysplasia_aplasia_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_hypodysplasia_aplasia_2_patient_1.json new file mode 100644 index 000000000..9659c78c3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_hypodysplasia_aplasia_2_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "renal_hypodysplasia/aplasia_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002009", + "label": "Potter facies" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0025700", + "label": "Anhydramnios" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615721", + "label": "Renal hypodysplasia/aplasia 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:18:17.129527Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_hypodysplasia_aplasia_4_patient_1.json new file mode 100644 index 000000000..e5a821fa5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_hypodysplasia_aplasia_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "renal_hypodysplasia/aplasia_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002089", + "label": "Pulmonary hypoplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619887", + "label": "Renal hypodysplasia/aplasia 4" + } + } + ], + "metaData": { + "created": "2024-06-11T22:19:38.141343Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in 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-0,0 +1,51 @@ +{ + "id": "renal_tubular_acidosis,_distal,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + }, + { + "type": { + "id": "HP:0012211", + "label": "Abnormal renal physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:179800", + "label": "Renal tubular acidosis, distal, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T23:29:24.343971Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_tubular_acidosis_distal_with_hemolytic_anemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_tubular_acidosis_distal_with_hemolytic_anemia_patient_1.json new file mode 100644 index 000000000..e3a4398fe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Renal_tubular_acidosis_distal_with_hemolytic_anemia_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "renal_tubular_acidosis,_distal,_with_hemolytic_anemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002900", + "label": "Hypokalemia" + } + }, + { + "type": { + "id": "HP:0000121", + "label": "Nephrocalcinosis" + } + }, + { + "type": { + "id": "HP:0030036", + "label": "Isothenuria" + } + }, + { + "type": { + "id": "HP:0001923", + "label": "Reticulocytosis" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000980", + "label": "Pallor" + } + }, + { + "type": { + "id": "HP:0025066", + "label": "Decreased mean corpuscular volume" + } + }, + { + "type": { + "id": "HP:0001878", + "label": "Hemolytic anemia" + } + }, + { + "type": { + "id": "HP:0008341", + "label": "Distal renal tubular acidosis" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611590", + "label": "Renal tubular acidosis, distal, with hemolytic anemia" + } + } + ], + "metaData": { + "created": "2024-06-11T20:20:39.590610Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + 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"renal_tubular_acidosis,_distal,_with_nephrocalcinosis,_short_stature,_mental_retardation,_and_distinctive_facies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000093", + "label": "Proteinuria" + } + }, + { + "type": { + "id": "HP:0005565", + "label": "Reduced renal corticomedullary differentiation" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611555", + "label": "Renal tubular acidosis, distal, with nephrocalcinosis, short stature, mental retardation, and distinctive facies" + } + } + ], + "metaData": { + "created": "2024-06-11T19:26:51.641314Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Respiratory_distress_syndrome_in_premature_infants_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Respiratory_distress_syndrome_in_premature_infants_patient_1.json new file mode 100644 index 000000000..f42975630 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Respiratory_distress_syndrome_in_premature_infants_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "respiratory_distress_syndrome_in_premature_infants", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002793", + "label": "Abnormal pattern of respiration" + } + }, + { + "type": { + "id": "HP:0012768", + "label": "Neonatal asphyxia" + } + }, + { + "type": { + "id": "HP:0002088", + "label": "Abnormal lung morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:267450", + "label": "Respiratory distress syndrome in premature infants" + } + } + 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--- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Respiratory_infections_recurrent_and_failure_to_thrive_with_or_without_diarrhea_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "respiratory_infections,_recurrent,_and_failure_to_thrive_with_or_without_diarrhea", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001525", + "label": "Severe failure to thrive" + } + }, + { + "type": { + "id": "HP:0034315", + "label": "Chronic cough" + } + }, + { + "type": { + "id": "HP:0034388", + "label": "Hilar lymph node enlargement" + } + }, + { + "type": { + "id": "HP:0031650", + "label": "Abnormal atrioventricular valve physiology" + } + }, + { + "type": { + "id": "HP:0000403", + "label": "Recurrent otitis media" + } + }, + { + "type": { + "id": "HP:0030829", + "label": "Abnormal breath sound" + } + }, + { + "type": { + "id": "HP:0033214", + "label": "Recurrent viral pneumonia" + } + }, + { + "type": { + "id": "HP:0031247", + "label": 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index 000000000..f221a15e7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Restless_legs_syndrome_susceptibility_to_1_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "restless_legs_syndrome,_susceptibility_to,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:102300", + "label": "Restless legs syndrome, susceptibility to, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T17:58:38.021177Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Restrictive_dermopathy_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Restrictive_dermopathy_1_patient_1.json new file mode 100644 index 000000000..32054d53c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Restrictive_dermopathy_1_patient_1.json @@ -0,0 +1,255 @@ +{ + "id": "restrictive_dermopathy_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000444", + "label": "Convex nasal ridge" + } + }, + { + "type": { + "id": "HP:0002089", + "label": "Pulmonary hypoplasia" + } + }, + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0040189", + "label": "Scaling skin" + } + }, + { + "type": { + "id": "HP:0001788", + "label": "Premature rupture of membranes" + } + }, + { + "type": { + "id": "HP:0045075", + "label": "Sparse eyebrow" + } + }, + { + "type": { + "id": "HP:0000561", + "label": "Absent eyelashes" + } + }, + { + "type": { + "id": "HP:0001562", + "label": "Oligohydramnios" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + }, + { + "type": { + "id": "HP:0002751", + "label": "Kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0012478", + "label": "Temporomandibular joint ankylosis" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal defect" + } + }, + { + "type": { + "id": "HP:0000176", + "label": "Submucous cleft hard palate" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0006645", + "label": "Thin clavicles" + } + }, + { + "type": { + "id": "HP:0000418", + "label": "Narrow nasal ridge" + } + }, + { + "type": { + "id": "HP:0001196", + "label": "Short umbilical cord" + } + }, + { + "type": { + "id": "HP:0000894", + "label": "Short clavicles" + } + }, + { + "type": { + "id": "HP:0005253", + "label": "Increased anterioposterior diameter of thorax" + } + }, + { + "type": { + "id": "HP:0000835", + "label": "Adrenal hypoplasia" + } + }, + { + "type": { + "id": "HP:0000073", + "label": "Ureteral duplication" + } + }, + { + "type": { + "id": "HP:0012745", + "label": "Short palpebral fissure" + } + }, + { + "type": { + "id": "HP:0009839", + "label": "Osteolytic defects of the distal phalanges of the hand" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0031013", + "label": "Ankylosis" + } + }, + { + "type": { + "id": "HP:0000695", + "label": "Natal tooth" + } + }, + { + "type": { + "id": "HP:0100840", + "label": "Aplasia/Hypoplasia of the eyebrow" + } + }, + { + "type": { + "id": "HP:0001622", + "label": "Premature birth" + } + }, + { + "type": { + "id": "HP:0000260", + "label": "Wide anterior fontanel" + } + }, + { + "type": { + "id": "HP:0003121", + "label": "Limb joint contracture" + } + }, + { + "type": { + "id": "HP:0006585", + "label": "Congenital pseudoarthrosis of the clavicle" + } + }, + { + "type": { + "id": "HP:0001371", + "label": "Flexion contracture" + } + }, + { + "type": { + "id": "HP:0000160", + "label": "Narrow mouth" + } + }, + { + "type": { + "id": "HP:0008365", + "label": "Abnormal talus morphology" + } + }, + { + "type": { + "id": "HP:0008065", + "label": "Aplasia/Hypoplasia of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:275210", + "label": "Restrictive dermopathy 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:21:34.594629Z", + "createdBy": 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"id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001072", + "label": "Thickened skin" + } + }, + { + "type": { + "id": "HP:0006391", + "label": "Overtubulated long bones" + } + }, + { + "type": { + "id": "HP:0000520", + "label": "Proptosis" + } + }, + { + "type": { + "id": "HP:0002692", + "label": "Hypoplastic facial bones" + } + }, + { + "type": { + "id": "HP:0002020", + "label": "Gastroesophageal reflux" + } + }, + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0100822", + "label": "Rectocele" + } + }, + { + "type": { + "id": "HP:0002094", + "label": "Dyspnea" + } + }, + { + "type": { + "id": "HP:0033994", + "label": "Dependency on parenteral nutrition" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619793", + "label": "Restrictive dermopathy 2" + } + } + ], + "metaData": { + "created": 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"reticular_dysgenesia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005354", + "label": "Lack of T cell function" + } + }, + { + "type": { + "id": "HP:0000778", + "label": "Hypoplasia of the thymus" + } + }, + { + "type": { + "id": "HP:0032251", + "label": "Abnormal immune system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:267500", + "label": "Reticular dysgenesia" + } + } + ], + "metaData": { + "created": "2024-06-11T22:52:09.296152Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Reticulate_acropigmentation_of_Kitamura_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Reticulate_acropigmentation_of_Kitamura_patient_1.json new file mode 100644 index 000000000..8f70bce08 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Reticulate_acropigmentation_of_Kitamura_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "reticulate_acropigmentation_of_kitamura", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012733", + "label": "Macule" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615537", + "label": "Reticulate acropigmentation of Kitamura" + } + } + ], + "metaData": { + "created": "2024-06-11T20:12:24.413882Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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"type": { + "id": "HP:0002716", + "label": "Lymphadenopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:312500", + "label": "Reticuloendotheliosis, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T22:09:48.633074Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Reticulum_cell_sarcoma_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Reticulum_cell_sarcoma_patient_1.json new file mode 100644 index 000000000..2de94d7aa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Reticulum_cell_sarcoma_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "reticulum_cell_sarcoma", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100242", + "label": "Sarcoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:267730", + "label": "Reticulum cell sarcoma" + } + } + ], + "metaData": { + "created": "2024-06-11T18:49:37.626922Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_arterial_macroaneurysm_with_supravalvular_pulmonic_stenosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_arterial_macroaneurysm_with_supravalvular_pulmonic_stenosis_patient_1.json new file mode 100644 index 000000000..412860c53 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_arterial_macroaneurysm_with_supravalvular_pulmonic_stenosis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "retinal_arterial_macroaneurysm_with_supravalvular_pulmonic_stenosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012231", + "label": "Exudative retinal detachment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614224", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_arteries_tortuosity_of_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "retinal_arteries,_tortuosity_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001136", + "label": "Retinal arteriolar tortuosity" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:180000", + "label": "Retinal arteries, tortuosity of" + } + } + ], + "metaData": { + "created": "2024-06-11T19:50:53.242072Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_cone_dystrophy_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_cone_dystrophy_1_patient_1.json new file mode 100644 index 000000000..a50aa5907 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_cone_dystrophy_1_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "retinal_cone_dystrophy_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + }, + { + "type": { + "id": "HP:0030586", + "label": "Abnormal Ishihara plate test" + } + }, + { + "type": { + "id": "HP:0012373", + "label": "Abnormal eye physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:180020", + "label": "Retinal cone dystrophy 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:44:54.724119Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_cone_dystrophy_3A_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_cone_dystrophy_3A_patient_1.json new file mode 100644 index 000000000..abc6d366e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_cone_dystrophy_3A_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "retinal_cone_dystrophy_3a", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + }, + { + "type": { + "id": "HP:0030480", + "label": "Abnormal timing of light-adapted flicker electroretinogram" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610024", + "label": "Retinal cone dystrophy 3A" + } + } + ], + "metaData": { + "created": "2024-06-11T23:12:18.742584Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_cone_dystrophy_3B_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_cone_dystrophy_3B_patient_1.json new file mode 100644 index 000000000..669475e01 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_cone_dystrophy_3B_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "retinal_cone_dystrophy_3b", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0000666", + "label": "Horizontal nystagmus" + } + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0004329", + "label": "Abnormal posterior eye segment morphology" + } + }, + { + "type": { + "id": "HP:5200058", + "label": "Sensory hypersensitivity" + } + }, + { + "type": { + "id": "HP:0031787", + "label": "Oblique astigmatism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610356", + "label": "Retinal cone dystrophy 3B" + } + } + ], + "metaData": { + "created": "2024-06-11T23:54:59.893118Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_cone_dystrophy_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_cone_dystrophy_4_patient_1.json new file mode 100644 index 000000000..1ea9ac29a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_cone_dystrophy_4_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "retinal_cone_dystrophy_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001133", + "label": "Constriction of peripheral visual field" + } + }, + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610478", + "label": "Retinal cone dystrophy 4" + } + } + ], + "metaData": { + "created": "2024-06-11T22:40:17.482957Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_degeneration_and_epilepsy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_degeneration_and_epilepsy_patient_1.json new file mode 100644 index 000000000..c1fb86d99 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_degeneration_and_epilepsy_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "retinal_degeneration_and_epilepsy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:267740", + "label": "Retinal degeneration and epilepsy" + } + } + ], + "metaData": { + "created": "2024-06-11T19:30:54.578573Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_degeneration_late_onset_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_degeneration_late_onset_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..2180903ac --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_degeneration_late_onset_autosomal_dominant_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "retinal_degeneration,_late-onset,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007830", + "label": "Adult-onset night blindness" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605670", + "label": "Retinal degeneration, late-onset, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T22:05:33.381231Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_degeneration_with_nanophthalmos_cystic_macular_degeneration_and_angle_closure_glaucoma_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_degeneration_with_nanophthalmos_cystic_macular_degeneration_and_angle_closure_glaucoma_patient_1.json new file mode 100644 index 000000000..0105fb486 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_degeneration_with_nanophthalmos_cystic_macular_degeneration_and_angle_closure_glaucoma_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "retinal_degeneration_with_nanophthalmos,_cystic_macular_degeneration,and_angle_closure_glaucoma", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P21Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000546", + "label": "Retinal degeneration" + } + }, + { + "type": { + "id": "HP:0030526", + "label": "Severe constriction of peripheral visual field" + } + }, + { + "type": { + "id": "HP:0008028", + "label": "Cystoid macular degeneration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:267760", + "label": "Retinal degeneration with nanophthalmos, cystic macular degeneration,and angle closure glaucoma" + } + } + ], + "metaData": { + "created": "2024-06-11T21:18:37.745178Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dysplasia_primary_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dysplasia_primary_patient_1.json new file mode 100644 index 000000000..ef917f695 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dysplasia_primary_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "retinal_dysplasia,_primary", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007973", + "label": "Retinal dysplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:312550", + "label": "Retinal dysplasia, primary" + } + } + ], + "metaData": { + "created": "2024-06-11T18:03:09.880098Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_and_iris_coloboma_with_or_without_congenital_cataract_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_and_iris_coloboma_with_or_without_congenital_cataract_patient_1.json new file mode 100644 index 000000000..f9ce45961 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_and_iris_coloboma_with_or_without_congenital_cataract_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "retinal_dystrophy_and_iris_coloboma_with_or_without_congenital_cataract", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001105", + "label": "Retinal atrophy" + } + }, + { + "type": { + "id": "HP:0011484", + "label": "Posterior synechiae of the anterior chamber" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616722", + "label": "Retinal dystrophy and iris coloboma with or without congenital cataract" + } + } + ], + "metaData": { + "created": "2024-06-11T23:29:54.233585Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_and_microvillus_inclusion_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_and_microvillus_inclusion_disease_patient_1.json new file mode 100644 index 000000000..03c1934c8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_and_microvillus_inclusion_disease_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "retinal_dystrophy_and_microvillus_inclusion_disease", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P11Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0002028", + "label": "Chronic diarrhea" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0000587", + "label": "Abnormal optic nerve morphology" + } + }, + { + "type": { + "id": "HP:0001141", + "label": "Severely reduced visual acuity" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619446", + "label": "Retinal dystrophy and microvillus inclusion disease" + } + } + ], + "metaData": { + "created": "2024-06-11T19:46:41.800Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_and_obesity_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_and_obesity_patient_1.json new file mode 100644 index 000000000..600e8cd17 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_and_obesity_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "retinal_dystrophy_and_obesity", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0012512", + "label": "Diffuse optic disc pallor" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616188", + "label": "Retinal dystrophy and obesity" + } + } + ], + "metaData": { + "created": "2024-06-11T20:28:24.217508Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_iris_coloboma_and_comedogenic_acne_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_iris_coloboma_and_comedogenic_acne_syndrome_patient_1.json new file mode 100644 index 000000000..7e560bceb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_iris_coloboma_and_comedogenic_acne_syndrome_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "retinal_dystrophy,_iris_coloboma,_and_comedogenic_acne_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P3Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000962", + "label": "Hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0030515", + "label": "Moderately reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0004329", + "label": "Abnormal posterior eye segment morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615147", + "label": "Retinal dystrophy, iris coloboma, and comedogenic acne syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:03:35.502790Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_juvenile_cataracts_and_short_stature_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_juvenile_cataracts_and_short_stature_syndrome_patient_1.json new file mode 100644 index 000000000..c41b53530 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_juvenile_cataracts_and_short_stature_syndrome_patient_1.json @@ -0,0 +1,104 @@ +{ + "id": "retinal_dystrophy,_juvenile_cataracts,_and_short_stature_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P15Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0000556", + "label": "Retinal dystrophy" + } + }, + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0009907", + "label": "Attached earlobe" + } + }, + { + "type": { + "id": "HP:0000430", + "label": "Underdeveloped nasal alae" + } + }, + { + "type": { + "id": "HP:0000580", + "label": "Pigmentary retinopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616108", + "label": "Retinal dystrophy, juvenile cataracts, and short stature syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:39:03.313021Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_reticular_pigmentary_of_posterior_pole_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_reticular_pigmentary_of_posterior_pole_patient_1.json new file mode 100644 index 000000000..b2d1edef8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_reticular_pigmentary_of_posterior_pole_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "retinal_dystrophy,_reticular_pigmentary,_of_posterior_pole", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000556", + "label": "Retinal dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:267800", + "label": "Retinal dystrophy, reticular pigmentary, of posterior pole" + } + } + ], + "metaData": { + "created": "2024-06-11T20:34:41.423949Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_with_inner_retinal_dysfunction_and_ganglion_cell_abnormalities_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_with_inner_retinal_dysfunction_and_ganglion_cell_abnormalities_patient_1.json new file mode 100644 index 000000000..7ed6dcbd7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_with_inner_retinal_dysfunction_and_ganglion_cell_abnormalities_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "retinal_dystrophy_with_inner_retinal_dysfunction_and_ganglion_cell_abnormalities", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000543", + "label": "Optic disc pallor" + } + }, + { + "type": { + "id": "HP:0000603", + "label": "Central scotoma" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616079", + "label": "Retinal dystrophy with inner retinal dysfunction and ganglion cell abnormalities" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:29.124833Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_with_leukodystrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_with_leukodystrophy_patient_1.json new file mode 100644 index 000000000..e7e628340 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_with_leukodystrophy_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "retinal_dystrophy_with_leukodystrophy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0011400", + "label": "Abnormal CNS myelination" + } + }, + { + "type": { + "id": "HP:0001324", + "label": "Muscle weakness" + } + }, + { + "type": { + "id": "HP:0032989", + "label": "Delayed ability to roll over" + } + }, + { + "type": { + "id": "HP:0002345", + "label": "Action tremor" + } + }, + { + "type": { + "id": "HP:0000601", + "label": "Hypotelorism" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0031172", + "label": "Sectoral retinitis pigmentosa" + } + }, + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0009099", + "label": "Median cleft palate" + } + }, + { + "type": { + "id": "HP:0002527", + "label": "Falls" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618863", + "label": "Retinal dystrophy with leukodystrophy" + } + } + ], + "metaData": { + "created": "2024-06-11T22:54:36.034432Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_with_or_without_extraocular_anomalies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_with_or_without_extraocular_anomalies_patient_1.json new file mode 100644 index 000000000..85fa72209 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_with_or_without_extraocular_anomalies_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "retinal_dystrophy_with_or_without_extraocular_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000556", + "label": "Retinal dystrophy" + }, + "modifiers": [ + { + "id": "HP:0003676", + "label": "Progressive" + } + ] + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617175", + "label": "Retinal dystrophy with or without extraocular anomalies" + } + } + ], + "metaData": { + "created": "2024-06-11T23:52:17.061866Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_with_or_without_macular_staphyloma_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_with_or_without_macular_staphyloma_patient_1.json new file mode 100644 index 000000000..39f9871b4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_dystrophy_with_or_without_macular_staphyloma_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "retinal_dystrophy_with_or_without_macular_staphyloma", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007737", + "label": "Bone spicule pigmentation of the retina" + } + }, + { + "type": { + "id": "HP:0030856", + "label": "Posterior staphyloma" + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + }, + { + "type": { + "id": "HP:0007814", + "label": "Retinal pigment epithelial mottling" + } + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000556", + "label": "Retinal dystrophy" + } + }, + { + "type": { + "id": "HP:0008046", + "label": "Abnormal retinal vascular morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617547", + "label": "Retinal dystrophy with or without macular staphyloma" + } + } + ], + "metaData": { + "created": "2024-06-11T19:15:03.970460Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_telangiectasia_and_hypogammaglobulinemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_telangiectasia_and_hypogammaglobulinemia_patient_1.json new file mode 100644 index 000000000..2a748e011 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinal_telangiectasia_and_hypogammaglobulinemia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "retinal_telangiectasia_and_hypogammaglobulinemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007763", + "label": "Retinal telangiectasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:267900", + "label": "Retinal telangiectasia and hypogammaglobulinemia" + } + } + ], + "metaData": { + "created": "2024-06-11T19:15:21.068855Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_10_patient_1.json new file mode 100644 index 000000000..434f1f788 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_10_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "retinitis_pigmentosa_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007737", + "label": "Bone spicule pigmentation of the retina" + } + }, + { + "type": { + "id": "HP:0031609", + "label": "Geographic atrophy" + } + }, + { + "type": { + "id": "HP:0011504", + "label": "Bull's eye maculopathy" + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + }, + { + "type": { + "id": "HP:0000556", + "label": "Retinal dystrophy" + } + }, + { + "type": { + "id": "HP:0012373", + "label": "Abnormal eye physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:180105", + "label": "Retinitis pigmentosa 10" + } + } + ], + "metaData": { + "created": "2024-06-11T19:03:50.342023Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_11_patient_1.json new file mode 100644 index 000000000..7793fec6a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_11_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "retinitis_pigmentosa_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030633", + "label": "Perifoveal ring of hyperautofluorescence surrounded by normal autofluorescence" + } + }, + { + "type": { + "id": "HP:0001103", + "label": "Abnormal macular morphology" + } + }, + { + "type": { + "id": "HP:0007675", + "label": "Progressive night blindness" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0007737", + "label": "Bone spicule pigmentation of the retina" + } + }, + { + "type": { + "id": "HP:0200056", + "label": "Macular scar" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600138", + "label": "Retinitis pigmentosa 11" + } + } + ], + "metaData": { + "created": "2024-06-11T21:01:47.365741Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_12_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_12_patient_1.json new file mode 100644 index 000000000..b6db7cd96 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_12_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "retinitis_pigmentosa_12", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031721", + "label": "Sensory exotropia" + } + }, + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + } + }, + { + "type": { + "id": "HP:0000580", + "label": "Pigmentary retinopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600105", + "label": "Retinitis pigmentosa 12" + } + } + ], + "metaData": { + "created": "2024-06-11T20:41:09.813922Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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}, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001133", + "label": "Constriction of peripheral visual field" + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0001098", + "label": "Abnormal fundus morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600059", + "label": "Retinitis pigmentosa 13" + } + } + ], + "metaData": { + "created": "2024-06-11T20:48:53.422314Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_14_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_14_patient_1.json new file mode 100644 index 000000000..f761352a0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_14_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "retinitis_pigmentosa_14", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007737", + "label": "Bone spicule pigmentation of the retina" + } + }, + { + "type": { + "id": "HP:0031172", + "label": "Sectoral retinitis pigmentosa" + } + }, + { + "type": { + "id": "HP:0012044", + "label": "Seesaw nystagmus" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600132", + "label": "Retinitis pigmentosa 14" + } + } + ], + "metaData": { + "created": "2024-06-11T22:13:43.868667Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_17_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_17_patient_1.json new file mode 100644 index 000000000..cd3ac97f4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_17_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "retinitis_pigmentosa_17", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P24Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000551", + "label": "Color vision defect" + } + }, + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600852", + "label": "Retinitis pigmentosa 17" + } + } + ], + "metaData": { + "created": "2024-06-11T20:37:45.012868Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_18_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_18_patient_1.json new file mode 100644 index 000000000..31b5e9191 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_18_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "retinitis_pigmentosa_18", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007987", + "label": "Progressive visual field defects" + } + }, + { + "type": { + "id": "HP:0008043", + "label": "Retinal arteriolar constriction" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601414", + "label": "Retinitis pigmentosa 18" + } + } + ], + "metaData": { + "created": "2024-06-11T22:25:35.947115Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_19_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_19_patient_1.json new file mode 100644 index 000000000..871328426 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_19_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "retinitis_pigmentosa_19", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P12Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007843", + "label": "Attenuation of retinal blood vessels" + } + }, + { + "type": { + "id": "HP:0031172", + "label": "Sectoral retinitis pigmentosa" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0030477", + "label": "Abnormal timing of dark-adapted bright flash electroretinogram" + } + }, + { + "type": { + "id": "HP:0001123", + "label": "Visual field defect" + } + }, + { + "type": { + "id": "HP:0001098", + "label": "Abnormal fundus morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601718", + "label": "Retinitis pigmentosa 19" + } + } + ], + "metaData": { + "created": "2024-06-11T18:05:12.293299Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_1_patient_1.json new file mode 100644 index 000000000..baf8cc36f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_1_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "retinitis_pigmentosa_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001133", + "label": "Constriction of peripheral visual field" + } + }, + { + "type": { + "id": "HP:0001098", + "label": "Abnormal fundus morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:180100", + "label": "Retinitis pigmentosa 1" + } + } + ], + "metaData": { + "created": "2024-06-11T17:50:50.179594Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_20_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_20_patient_1.json new file mode 100644 index 000000000..d625702e1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_20_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "retinitis_pigmentosa_20", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613794", + "label": "Retinitis pigmentosa 20" + } + } + ], + "metaData": { + "created": "2024-06-11T20:50:26.313039Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_23_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_23_patient_1.json new file mode 100644 index 000000000..1d4a438cb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_23_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "retinitis_pigmentosa_23", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025573", + "label": "Mild myopia" + } + }, + { + "type": { + "id": "HP:0007722", + "label": "Retinal pigment epithelial atrophy" + } + }, + { + "type": { + "id": "HP:0000551", + "label": "Color vision defect" + } + }, + { + "type": { + "id": "HP:0007787", + "label": "Posterior subcapsular cataract" + } + }, + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300424", + "label": "Retinitis pigmentosa 23" + } + } + ], + "metaData": { + "created": "2024-06-11T18:07:07.271011Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_24_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_24_patient_1.json new file mode 100644 index 000000000..bb50e67c5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_24_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "retinitis_pigmentosa_24", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P8Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008020", + "label": "Cone dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300155", + "label": "Retinitis pigmentosa 24" + } + } + ], + "metaData": { + "created": "2024-06-11T17:48:21.787353Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_25_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_25_patient_1.json new file mode 100644 index 000000000..fa0d879e6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_25_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "retinitis_pigmentosa_25", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + }, + { + "type": { + "id": "HP:0031172", + "label": "Sectoral retinitis pigmentosa" + } + }, + { + "type": { + "id": "HP:0001123", + "label": "Visual field defect" + } + }, + { + "type": { + "id": "HP:0001098", + "label": "Abnormal fundus morphology" + } + }, + { + "type": { + "id": "HP:0000517", + "label": "Abnormal lens morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602772", + "label": "Retinitis pigmentosa 25" + } + } + ], + "metaData": { + "created": "2024-06-11T18:33:07.721200Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_26_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_26_patient_1.json new file mode 100644 index 000000000..e05c7295b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_26_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "retinitis_pigmentosa_26", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001133", + "label": "Constriction of peripheral visual field" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608380", + "label": "Retinitis pigmentosa 26" + } + } + ], + "metaData": { + "created": "2024-06-11T22:30:00.763936Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_27_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_27_patient_1.json new file mode 100644 index 000000000..026a209cc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_27_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "retinitis_pigmentosa_27", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001133", + "label": "Constriction of peripheral visual field" + } + }, + { + "type": { + "id": "HP:0007737", + "label": "Bone spicule pigmentation of the retina" + } + }, + { + "type": { + "id": "HP:0000533", + "label": "Chorioretinal atrophy" + } + }, + { + "type": { + "id": "HP:0011505", + "label": "Cystoid macular edema" + } + }, + { + "type": { + "id": "HP:0012373", + "label": "Abnormal eye physiology" + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613750", + "label": "Retinitis pigmentosa 27" + } + } + ], + "metaData": { + "created": "2024-06-11T20:02:37.042372Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_28_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_28_patient_1.json new file mode 100644 index 000000000..ccbf1291a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_28_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "retinitis_pigmentosa_28", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007737", + "label": "Bone spicule pigmentation of the retina" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606068", + "label": "Retinitis pigmentosa 28" + } + } + ], + "metaData": { + "created": "2024-06-11T23:10:33.370536Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_29_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_29_patient_1.json new file mode 100644 index 000000000..a16cf20e3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_29_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "retinitis_pigmentosa_29", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612165", + "label": "Retinitis pigmentosa 29" + } + } + ], + "metaData": { + "created": "2024-06-11T18:39:50.082144Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_2_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_2_X_linked_patient_1.json new file mode 100644 index 000000000..f496d9253 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_2_X_linked_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "retinitis_pigmentosa_2,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200065", + "label": "Chorioretinal degeneration" + } + }, + { + "type": { + "id": "HP:0011003", + "label": "High myopia" + } + }, + { + "type": { + "id": "HP:0007737", + "label": "Bone spicule pigmentation of the retina" + } + }, + { + "type": { + "id": "HP:0031730", + "label": "Axial myopia" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0030527", + "label": "Very severe constriction of peripheral visual field" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:312600", + "label": "Retinitis pigmentosa 2, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T23:42:16.844169Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_30_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_30_patient_1.json new file mode 100644 index 000000000..975b4f73f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_30_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "retinitis_pigmentosa_30", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607921", + "label": "Retinitis pigmentosa 30" + } + } + ], + "metaData": { + "created": "2024-06-11T21:14:21.295902Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_31_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_31_patient_1.json new file mode 100644 index 000000000..744066be2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_31_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "retinitis_pigmentosa_31", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000512", + "label": "Abnormal electroretinogram" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609923", + "label": "Retinitis pigmentosa 31" + } + } + ], + "metaData": { + "created": "2024-06-11T22:02:32.005155Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_32_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_32_patient_1.json new file mode 100644 index 000000000..98593fb55 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_32_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "retinitis_pigmentosa_32", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P11Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007843", + "label": "Attenuation of retinal blood vessels" + } + }, + { + "type": { + "id": "HP:0007875", + "label": "Congenital blindness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609913", + "label": "Retinitis pigmentosa 32" + } + } + ], + "metaData": { + "created": "2024-06-11T20:00:40.199871Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_33_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_33_patient_1.json new file mode 100644 index 000000000..e1f71f62f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_33_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "retinitis_pigmentosa_33", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007722", + "label": "Retinal pigment epithelial atrophy" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0007843", + "label": "Attenuation of retinal blood vessels" + } + }, + { + "type": { + "id": "HP:0007737", + "label": "Bone spicule pigmentation of the retina" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610359", + "label": "Retinitis pigmentosa 33" + } + } + ], + "metaData": { + "created": "2024-06-11T18:08:09.170871Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_35_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_35_patient_1.json new file mode 100644 index 000000000..d85c267cb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_35_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "retinitis_pigmentosa_35", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610282", + "label": "Retinitis pigmentosa 35" + } + } + ], + "metaData": { + "created": "2024-06-11T22:02:14.760359Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_36_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_36_patient_1.json new file mode 100644 index 000000000..5dbe0e6a6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_36_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "retinitis_pigmentosa_36", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000550", + "label": "Undetectable electroretinogram" + } + }, + { + "type": { + "id": "HP:0007737", + "label": "Bone spicule pigmentation of the retina" + } + }, + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + }, + { + "type": { + "id": "HP:0000543", + "label": "Optic disc pallor" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610599", + "label": "Retinitis pigmentosa 36" + } + } + ], + "metaData": { + "created": "2024-06-11T19:12:09.410427Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_37_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_37_patient_1.json new file mode 100644 index 000000000..91967e818 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_37_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "retinitis_pigmentosa_37", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + }, + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0008028", + "label": "Cystoid macular degeneration" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0000479", + "label": "Abnormal retinal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611131", + "label": "Retinitis pigmentosa 37" + } + } + ], + "metaData": { + "created": "2024-06-11T18:17:24.755547Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_38_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_38_patient_1.json new file mode 100644 index 000000000..e1e1458dd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_38_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "retinitis_pigmentosa_38", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007401", + "label": "Macular atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613862", + "label": "Retinitis pigmentosa 38" + } + } + ], + "metaData": { + "created": "2024-06-11T17:43:57.972323Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_39_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_39_patient_1.json new file mode 100644 index 000000000..1dbc3d1bd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_39_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "retinitis_pigmentosa_39", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007737", + "label": "Bone spicule pigmentation of the retina" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613809", + "label": "Retinitis pigmentosa 39" + } + } + ], + "metaData": { + "created": "2024-06-11T21:23:29.733837Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_3_patient_1.json new file mode 100644 index 000000000..02d92a6fd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_3_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "retinitis_pigmentosa_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011003", + "label": "High myopia" + } + }, + { + "type": { + "id": "HP:0034272", + "label": "Perifoveal hypoautofluorescence" + } + }, + { + "type": { + "id": "HP:0030515", + "label": "Moderately reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0000551", + "label": "Color vision defect" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300029", + "label": "Retinitis pigmentosa 3" + } + } + ], + "metaData": { + "created": "2024-06-11T22:57:11.748920Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_40_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_40_patient_1.json new file mode 100644 index 000000000..1808e66a7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_40_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "retinitis_pigmentosa_40", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P38Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007830", + "label": "Adult-onset night blindness" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0000580", + "label": "Pigmentary retinopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613801", + "label": "Retinitis pigmentosa 40" + } + } + ], + "metaData": { + "created": "2024-06-11T19:24:40.782315Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_41_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_41_patient_1.json new file mode 100644 index 000000000..e31bb51be --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_41_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "retinitis_pigmentosa_41", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P4Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + }, + { + "type": { + "id": "HP:0000608", + "label": "Macular degeneration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612095", + "label": "Retinitis pigmentosa 41" + } + } + ], + "metaData": { + "created": "2024-06-11T21:32:55.298580Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_42_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_42_patient_1.json new file mode 100644 index 000000000..6097a609d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_42_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "retinitis_pigmentosa_42", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + }, + { + "type": { + "id": "HP:0030629", + "label": "Perifoveal ring of hyperautofluorescence" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612943", + "label": "Retinitis pigmentosa 42" + } + } + ], + "metaData": { + "created": "2024-06-11T18:02:10.952479Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_43_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_43_patient_1.json new file mode 100644 index 000000000..1ab8c5538 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_43_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "retinitis_pigmentosa_43", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P8Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0007737", + "label": "Bone spicule pigmentation of the retina" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613810", + "label": "Retinitis pigmentosa 43" + } + } + ], + "metaData": { + "created": "2024-06-11T20:41:53.554572Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_44_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_44_patient_1.json new file mode 100644 index 000000000..328cbca7e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_44_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "retinitis_pigmentosa_44", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0000654", + "label": "Decreased light- and dark-adapted electroretinogram amplitude" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613769", + "label": "Retinitis pigmentosa 44" + } + } + ], + "metaData": { + "created": "2024-06-11T20:29:32.599426Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_45_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_45_patient_1.json new file mode 100644 index 000000000..d829d00bd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_45_patient_1.json @@ -0,0 +1,74 @@ +{ + "id": "retinitis_pigmentosa_45", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007994", + "label": "Peripheral visual field loss" + } + }, + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0000580", + "label": "Pigmentary retinopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613767", + "label": "Retinitis pigmentosa 45" + } + } + ], + "metaData": { + "created": "2024-06-11T21:12:49.824641Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_46_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_46_patient_1.json new file mode 100644 index 000000000..3599949d6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_46_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "retinitis_pigmentosa_46", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007843", + "label": "Attenuation of retinal blood vessels" + } + }, + { + "type": { + "id": "HP:0000580", + "label": "Pigmentary retinopathy" + } + }, + { + "type": { + "id": "HP:0001133", + "label": "Constriction of peripheral visual field" + } + }, + { + "type": { + "id": "HP:0000654", + "label": "Decreased light- and dark-adapted electroretinogram amplitude" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612572", + "label": "Retinitis pigmentosa 46" + } + } + ], + "metaData": { + "created": "2024-06-11T18:08:40.763513Z", + "createdBy": "phenotype2phenopacket", + "resources": 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+ { + "type": { + "id": "HP:0000512", + "label": "Abnormal electroretinogram" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613758", + "label": "Retinitis pigmentosa 47" + } + } + ], + "metaData": { + "created": "2024-06-11T21:37:02.320694Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_48_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_48_patient_1.json new file mode 100644 index 000000000..468c0e35e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_48_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "retinitis_pigmentosa_48", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008028", + "label": "Cystoid macular degeneration" + } + }, + { + "type": { + "id": "HP:0030526", + "label": "Severe constriction of peripheral visual field" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613827", + "label": "Retinitis pigmentosa 48" + } + } + ], + "metaData": { + "created": "2024-06-11T22:12:30.596869Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_49_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_49_patient_1.json new file mode 100644 index 000000000..fa66a37ee --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_49_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "retinitis_pigmentosa_49", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_4_patient_1.json new file mode 100644 index 000000000..a56eb30db --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_4_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "retinitis_pigmentosa_4", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P74Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000580", + "label": "Pigmentary retinopathy" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0030453", + "label": "Abnormal visual electrophysiology" + } + }, + { + "type": { + "id": "HP:0008046", + "label": "Abnormal retinal vascular morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613731", + "label": "Retinitis pigmentosa 4" + } + } + ], + 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-0,0 +1,68 @@ +{ + "id": "retinitis_pigmentosa-50", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P13Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000541", + "label": "Retinal detachment" + } + }, + { + "type": { + "id": "HP:0007843", + "label": "Attenuation of retinal blood vessels" + } + }, + { + "type": { + "id": "HP:0000654", + "label": "Decreased light- and dark-adapted electroretinogram amplitude" + } + }, + { + "type": { + "id": "HP:0030506", + "label": "Yellow/white lesions of the retina" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613194", + "label": "Retinitis pigmentosa-50" + } + } + ], + "metaData": { + "created": "2024-06-11T19:48:15.643295Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_54_patient_1.json new file mode 100644 index 000000000..ffe3b3277 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_54_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "retinitis_pigmentosa_54", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + }, + { + "type": { + "id": "HP:0007843", + "label": "Attenuation of retinal blood vessels" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613428", + "label": "Retinitis pigmentosa 54" + } + } + ], + "metaData": { + "created": "2024-06-11T22:20:43.997164Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_55_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_55_patient_1.json new file mode 100644 index 000000000..2b6b3e4cd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_55_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "retinitis_pigmentosa_55", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613575", + "label": "Retinitis pigmentosa 55" + } + } + ], + "metaData": { + "created": "2024-06-11T22:33:48.503258Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_56_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_56_patient_1.json new file mode 100644 index 000000000..3f6d95aa2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_56_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "retinitis_pigmentosa_56", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0007737", + "label": "Bone spicule pigmentation of the retina" + } + }, + { + "type": { + "id": "HP:0000580", + "label": "Pigmentary retinopathy" + } + }, + { + "type": { + "id": "HP:0007675", + "label": "Progressive night blindness" + } + }, + { + "type": { + "id": "HP:0000479", + "label": "Abnormal retinal morphology" + } + }, + { + "type": { + "id": "HP:0004329", + "label": "Abnormal posterior eye segment morphology" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0500087", + "label": "Peripapillary atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613581", + "label": "Retinitis pigmentosa 56" + } + } + ], + "metaData": { + "created": "2024-06-11T20:23:19.320294Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_57_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_57_patient_1.json new file mode 100644 index 000000000..d7a5f4477 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_57_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "retinitis_pigmentosa_57", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P28Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001133", + "label": "Constriction of peripheral visual field" + } + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0030825", + "label": "Absent foveal reflex" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613582", + "label": "Retinitis pigmentosa 57" + } + } + ], + "metaData": { + "created": "2024-06-11T20:47:47.729301Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_58_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_58_patient_1.json new file mode 100644 index 000000000..32246a297 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_58_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "retinitis_pigmentosa_58", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P9Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000543", + "label": "Optic disc pallor" + } + }, + { + "type": { + "id": "HP:0007737", + "label": "Bone spicule pigmentation of the retina" + } + }, + { + "type": { + "id": "HP:0000608", + "label": "Macular degeneration" + } + }, + { + "type": { + "id": "HP:0000556", + "label": "Retinal dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613617", + "label": "Retinitis pigmentosa 58" + } + } + ], + "metaData": { + "created": "2024-06-11T22:40:20.330727Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_59_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_59_patient_1.json new file mode 100644 index 000000000..5e151205e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_59_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "retinitis_pigmentosa_59", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + }, + { + "type": { + "id": "HP:0001133", + "label": "Constriction of peripheral visual field" + } + }, + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + }, + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0001117", + "label": "Sudden loss of visual acuity" + } + }, + { + "type": { + "id": "HP:0001507", + "label": "Growth abnormality" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0012624", + "label": "Stage 2 chronic kidney disease" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613861", + "label": "Retinitis pigmentosa 59" + } + } + ], + "metaData": { + "created": "2024-06-11T18:10:24.782360Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_60_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_60_patient_1.json new file mode 100644 index 000000000..375a12ed6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_60_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "retinitis_pigmentosa_60", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000479", + "label": "Abnormal retinal morphology" + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613983", + "label": "Retinitis pigmentosa 60" + } + } + ], + "metaData": { + "created": "2024-06-11T21:11:44.365155Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_61_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_61_patient_1.json new file mode 100644 index 000000000..c85fb6ace --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_61_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "retinitis_pigmentosa_61", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007688", + "label": "Undetectable light- and dark-adapted electroretinogram" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614180", + "label": "Retinitis pigmentosa 61" + } + } + ], + "metaData": { + "created": "2024-06-11T21:29:17.865094Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_62_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_62_patient_1.json new file mode 100644 index 000000000..ffde65944 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_62_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "retinitis_pigmentosa_62", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + }, + { + "type": { + "id": "HP:0007843", + "label": "Attenuation of retinal blood vessels" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0000580", + "label": "Pigmentary retinopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614181", + "label": "Retinitis pigmentosa 62" + } + } + ], + "metaData": { + "created": "2024-06-11T21:47:56.639472Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_63_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_63_patient_1.json new file mode 100644 index 000000000..cf043a184 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_63_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "retinitis_pigmentosa_63", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000543", + "label": "Optic disc pallor" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614494", + "label": "Retinitis pigmentosa 63" + } + } + ], + "metaData": { + "created": "2024-06-12T02:17:41.960841Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_66_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_66_patient_1.json new file mode 100644 index 000000000..dfaf0ce0a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_66_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "retinitis_pigmentosa_66", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P16Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001133", + "label": "Constriction of peripheral visual field" + } + }, + { + "type": { + "id": "HP:0000603", + "label": "Central scotoma" + } + }, + { + "type": { + "id": "HP:0007787", + "label": "Posterior subcapsular cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615233", + "label": "Retinitis pigmentosa 66" + } + } + ], + "metaData": { + "created": "2024-06-11T18:56:15.498211Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_67_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_67_patient_1.json new file mode 100644 index 000000000..c360b2659 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_67_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "retinitis_pigmentosa_67", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615565", + "label": "Retinitis pigmentosa 67" + } + } + ], + "metaData": { + "created": "2024-06-11T23:28:33.163493Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_68_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_68_patient_1.json new file mode 100644 index 000000000..4cbc64ba4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_68_patient_1.json @@ -0,0 +1,74 @@ +{ + "id": "retinitis_pigmentosa_68", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001123", + "label": "Visual field defect" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0007947", + "label": "Pericentral retinitis pigmentosa" + } + }, + { + "type": { + "id": "HP:0007830", + "label": "Adult-onset night blindness" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615725", + "label": "Retinitis pigmentosa 68" + } + } + ], + "metaData": { + "created": "2024-06-11T20:08:22.779522Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_69_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_69_patient_1.json new file mode 100644 index 000000000..13862367a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_69_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "retinitis_pigmentosa_69", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P53Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001098", + "label": "Abnormal fundus morphology" + } + }, + { + "type": { + "id": "HP:0030601", + "label": "Abnormal posterior segment imaging" + } + }, + { + "type": { + "id": "HP:0007830", + "label": "Adult-onset night blindness" + } + }, + { + "type": { + "id": "HP:0030525", + "label": "Moderate constriction of peripheral visual field" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615780", + "label": "Retinitis pigmentosa 69" + } + } + ], + "metaData": { + "created": "2024-06-11T18:51:25.928677Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_70_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_70_patient_1.json new file mode 100644 index 000000000..fcf060003 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_70_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "retinitis_pigmentosa_70", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + }, + { + "type": { + "id": "HP:0000608", + "label": "Macular degeneration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615922", + "label": "Retinitis pigmentosa 70" + } + } + ], + "metaData": { + "created": "2024-06-11T21:32:39.376715Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_72_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_72_patient_1.json new file mode 100644 index 000000000..c28e950cd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_72_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "retinitis_pigmentosa_72", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0500086", + "label": "Optic nerve gray crescent" + } + }, + { + "type": { + "id": "HP:0007843", + "label": "Attenuation of retinal blood vessels" + } + }, + { + "type": { + "id": "HP:0030522", + "label": "Mild constriction of peripheral visual field" + } + }, + { + "type": { + "id": "HP:0000580", + "label": "Pigmentary retinopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_73_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "retinitis_pigmentosa_73", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000603", + "label": "Central scotoma" + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + }, + { + "type": { + "id": "HP:0001133", + "label": "Constriction of peripheral visual field" + } + }, + { + "type": { + "id": "HP:0030501", + "label": "Macular crystals" + } + }, + { + "type": { + "id": "HP:0000556", + "label": "Retinal dystrophy" + } + }, + { + "type": { + "id": "HP:0001098", + "label": "Abnormal fundus morphology" + } + }, + { + "type": { + "id": "HP:0030529", + "label": "Ring scotoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616544", + "label": "Retinitis pigmentosa 73" + } + } + ], + "metaData": { + "created": "2024-06-11T22:21:35.947303Z", + "createdBy": "phenotype2phenopacket", + "resources": 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_75_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_75_patient_1.json new file mode 100644 index 000000000..1cd6509d0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_75_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "retinitis_pigmentosa_75", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007843", + "label": "Attenuation of retinal blood vessels" + } + }, + { + "type": { + "id": "HP:0007737", + "label": "Bone spicule pigmentation of the retina" + } + }, + { + "type": { + "id": "HP:0007994", + "label": "Peripheral visual field loss" + } + }, + { + "type": { + "id": "HP:0001017", + "label": "Anemic pallor" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617023", + "label": "Retinitis pigmentosa 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_76_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "retinitis_pigmentosa_76", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0500087", + "label": "Peripapillary atrophy" + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0032123", + "label": "Ultra-low vision" + } + }, + { + "type": { + "id": "HP:0000479", + "label": "Abnormal retinal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617123", + "label": "Retinitis pigmentosa 76" + } + } + ], + "metaData": { + "created": "2024-06-11T20:36:26.131908Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_78_patient_1.json new file mode 100644 index 000000000..ff520dc19 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_78_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "retinitis_pigmentosa_78", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000543", + "label": "Optic disc pallor" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617433", + "label": "Retinitis pigmentosa 78" + } + } + ], + "metaData": { + "created": "2024-06-11T19:22:04.158248Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_7_patient_1.json new file mode 100644 index 000000000..8b9577b4f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_7_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "retinitis_pigmentosa_7", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P25Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007843", + "label": "Attenuation of retinal blood vessels" + } + }, + { + "type": { + "id": "HP:0007675", + "label": "Progressive night blindness" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608133", + "label": "Retinitis pigmentosa 7" + } + } + ], + "metaData": { + "created": "2024-06-11T22:59:07.472662Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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}, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010230", + "label": "Cone-shaped epiphyses of the phalanges of the hand" + } + }, + { + "type": { + "id": "HP:0000529", + "label": "Progressive visual loss" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617781", + "label": "Retinitis pigmentosa 80" + } + } + ], + "metaData": { + "created": "2024-06-11T18:15:57.647689Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_81_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_81_patient_1.json new file mode 100644 index 000000000..b78a06123 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_81_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "retinitis_pigmentosa_81", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0007737", + "label": "Bone spicule pigmentation of the retina" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617871", + "label": "Retinitis pigmentosa 81" + } + } + ], + "metaData": { + "created": "2024-06-11T19:27:04.164936Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_85_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_85_patient_1.json new file mode 100644 index 000000000..0cf5d94bc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_85_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "retinitis_pigmentosa_85", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P6Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618345", + "label": "Retinitis pigmentosa 85" + } + } + ], + "metaData": { + "created": "2024-06-11T22:09:07.390870Z", + "createdBy": "phenotype2phenopacket", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_88_patient_1.json @@ -0,0 +1,74 @@ +{ + "id": "retinitis_pigmentosa_88", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000479", + "label": "Abnormal retinal morphology" + } + }, + { + "type": { + "id": "HP:0007737", + "label": "Bone spicule pigmentation of the retina" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0007675", + "label": "Progressive night blindness" + } + }, + { + "type": { + "id": "HP:0008046", + "label": "Abnormal retinal vascular morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618826", + "label": "Retinitis pigmentosa 88" + } + } + ], + "metaData": { + "created": "2024-06-11T20:26:49.283640Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + 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mode 100644 index 000000000..dcd949928 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_92_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "retinitis_pigmentosa_92", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0001133", + "label": "Constriction of peripheral visual field" + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619614", + "label": "Retinitis pigmentosa 92" + } + } + ], + "metaData": { + "created": "2024-06-12T00:30:19.294773Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_93_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_93_patient_1.json new file mode 100644 index 000000000..09d5966a0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_93_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "retinitis_pigmentosa_93", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619845", + "label": "Retinitis pigmentosa 93" + } + } + ], + "metaData": { + "created": "2024-06-11T22:35:14.195764Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_95_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_95_patient_1.json new file mode 100644 index 000000000..f82d70df3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_95_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "retinitis_pigmentosa_95", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001117", + "label": "Sudden loss of visual acuity" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0500086", + "label": "Optic nerve gray crescent" + } + }, + { + "type": { + "id": "HP:0000580", + "label": "Pigmentary retinopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620102", + "label": "Retinitis pigmentosa 95" + } + } + ], + "metaData": { + "created": "2024-06-11T19:15:14.590292Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_96_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_96_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..868e88547 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_96_autosomal_dominant_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "retinitis_pigmentosa_96,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000618", + "label": "Blindness" + } + }, + { + "type": { + "id": "HP:0031172", + "label": "Sectoral retinitis pigmentosa" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620228", + "label": "Retinitis pigmentosa 96, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T20:38:20.068340Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_97_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_97_patient_1.json new file mode 100644 index 000000000..510c6b8d8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_97_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "retinitis_pigmentosa_97", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032037", + "label": "Mildly reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + }, + { + "type": { + "id": "HP:0004329", + "label": "Abnormal posterior eye segment morphology" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620422", + "label": "Retinitis pigmentosa 97" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:45.781820Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_9_patient_1.json new file mode 100644 index 000000000..dc1a10d4a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_9_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "retinitis_pigmentosa_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001133", + "label": "Constriction of peripheral visual field" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:180104", + "label": "Retinitis pigmentosa 9" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:35.968017Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_X_linked_and_sinorespiratory_infections_withor_without_deafness_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_X_linked_and_sinorespiratory_infections_withor_without_deafness_patient_1.json new file mode 100644 index 000000000..6510b7818 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_X_linked_and_sinorespiratory_infections_withor_without_deafness_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "retinitis_pigmentosa,_x-linked,_and_sinorespiratory_infections,_withor_without_deafness", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005101", + "label": "High-frequency hearing impairment" + } + }, + { + "type": { + "id": "HP:0005376", + "label": "Recurrent Haemophilus influenzae infections" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300455", + "label": "Retinitis pigmentosa, X-linked, and sinorespiratory infections, withor without deafness" + } + } + ], + "metaData": { + "created": "2024-06-11T20:36:38.534762Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_and_erythrocytic_microcytosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_and_erythrocytic_microcytosis_patient_1.json new file mode 100644 index 000000000..6ff8ef8d3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_and_erythrocytic_microcytosis_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "retinitis_pigmentosa_and_erythrocytic_microcytosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001105", + "label": "Retinal atrophy" + } + }, + { + "type": { + "id": "HP:0000543", + "label": "Optic disc pallor" + } + }, + { + "type": { + "id": "HP:0000662", + "label": "Nyctalopia" + } + }, + { + "type": { + "id": "HP:0007843", + "label": "Attenuation of retinal blood vessels" + } + }, + { + "type": { + "id": "HP:0030609", + "label": "Photoreceptor layer loss on macular OCT" + } + }, + { + "type": { + "id": "HP:0200070", + "label": "Peripheral retinal atrophy" + } + }, + { + "type": { + "id": "HP:0004445", + "label": "Elliptocytosis" + } + }, + { + "type": { + "id": "HP:0011273", + "label": "Anisocytosis" + } + }, + { + "type": { + "id": "HP:0007722", + "label": "Retinal pigment epithelial atrophy" + } + }, + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0040303", + "label": "Decreased circulating iron concentration" + } + }, + { + "type": { + "id": "HP:0011505", + "label": "Cystoid macular edema" + } + }, + { + "type": { + "id": "HP:0025066", + "label": "Decreased mean corpuscular volume" + } + }, + { + "type": { + "id": "HP:0100014", + "label": "Epiretinal membrane" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616959", + "label": "Retinitis pigmentosa and erythrocytic microcytosis" + } + } + ], + "metaData": { + "created": "2024-06-11T21:23:49.366731Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_deafness_mental_retardation_and_hypogonadism_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_deafness_mental_retardation_and_hypogonadism_patient_1.json new file mode 100644 index 000000000..803aca9e9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_deafness_mental_retardation_and_hypogonadism_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "retinitis_pigmentosa,_deafness,_mental_retardation,_and_hypogonadism", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001769", + "label": "Broad foot" + } + }, + { + "type": { + "id": "HP:0007787", + "label": "Posterior subcapsular cataract" + } + }, + { + "type": { + "id": "HP:0000135", + "label": "Hypogonadism" + } + }, + { + "type": { + "id": "HP:0001169", + "label": "Broad palm" + } + }, + { + "type": { + "id": "HP:0007776", + "label": "Sparse lower eyelashes" + } + }, + { + "type": { + "id": "HP:0000339", + "label": "Pugilistic facies" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000580", + "label": "Pigmentary retinopathy" + } + }, + { + "type": { + "id": "HP:0008675", + "label": "Enlarged polycystic ovaries" + } + }, + { + "type": { + "id": "HP:0001098", + "label": "Abnormal fundus morphology" + } + }, + { + "type": { + "id": "HP:0001583", + "label": "Rotary nystagmus" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:268020", + "label": "Retinitis pigmentosa, deafness, mental retardation, and hypogonadism" + } + } + ], + "metaData": { + "created": "2024-06-11T23:05:24.889973Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_late_adult_onset_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_late_adult_onset_patient_1.json new file mode 100644 index 000000000..1c0cc948b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_late_adult_onset_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "retinitis_pigmentosa,_late-adult_onset", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P72Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003584", + "label": "Late onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:268025", + "label": "Retinitis pigmentosa, late-adult onset" + } + } + ], + "metaData": { + "created": "2024-06-12T02:25:04.490870Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_patient_1.json new file mode 100644 index 000000000..4ad90ec8c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "retinitis_pigmentosa", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031605", + "label": "Abnormality of fundus pigmentation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:268000", + "label": "Retinitis pigmentosa" + } + } + ], + "metaData": { + "created": "2024-06-11T17:43:17.449631Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_with_or_without_situs_inversus_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_with_or_without_situs_inversus_patient_1.json new file mode 100644 index 000000000..70610d6f7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_with_or_without_situs_inversus_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "retinitis_pigmentosa_with_or_without_situs_inversus", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033036", + "label": "Decreased nasal nitric oxide" + } + }, + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + }, + { + "type": { + "id": "HP:0001696", + "label": "Situs inversus totalis" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615434", + "label": "Retinitis pigmentosa with or without situs inversus" + } + } + ], + "metaData": { + "created": "2024-06-11T18:41:33.639404Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_with_or_without_skeletal_anomalies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_with_or_without_skeletal_anomalies_patient_1.json new file mode 100644 index 000000000..fab3ad407 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinitis_pigmentosa_with_or_without_skeletal_anomalies_patient_1.json @@ -0,0 +1,176 @@ +{ + "id": "retinitis_pigmentosa_with_or_without_skeletal_anomalies", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + 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"id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0000957", + "label": "Cafe-au-lait spot" + } + }, + { + "type": { + "id": "HP:0012471", + "label": "Thick vermilion border" + } + }, + { + "type": { + "id": "HP:0009882", + "label": "Short distal phalanx of finger" + } + }, + { + "type": { + "id": "HP:0033994", + "label": "Dependency on parenteral nutrition" + } + }, + { + "type": { + "id": "HP:0040194", + "label": "Increased head circumference" + } + }, + { + "type": { + "id": "HP:0005871", + "label": "Metaphyseal chondrodysplasia" + } + }, + { + "type": { + "id": "HP:0000349", + "label": "Widow's peak" + } + }, + { + "type": { + "id": "HP:0200006", + "label": "Slanting of the palpebral fissure" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:250410", + "label": "Retinitis pigmentosa with or without skeletal anomalies" + } + } + ], + "metaData": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinopathy_pericentral_pigmentary_autosomal_recessive_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "retinopathy,_pericentral_pigmentary,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000580", + "label": "Pigmentary retinopathy" + } + }, + { + "type": { + "id": "HP:0000483", + "label": "Astigmatism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:268060", + "label": "Retinopathy, pericentral pigmentary, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T19:47:03.938517Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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"onset": { + "ontologyClass": { + "id": "HP:0003584", + "label": "Late onset" + } + } + }, + { + "type": { + "id": "HP:0007843", + "label": "Attenuation of retinal blood vessels" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:180210", + "label": "Retinopathy, pericentral pigmentary, dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T20:40:19.123180Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinoschisis_1_X_linked_juvenile_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinoschisis_1_X_linked_juvenile_patient_1.json new file mode 100644 index 000000000..4840ef5cf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Retinoschisis_1_X_linked_juvenile_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "retinoschisis_1,_x-linked,_juvenile", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000541", + "label": "Retinal detachment" + } + }, + { + "type": { + "id": "HP:0007667", + "label": "Peripheral cystoid retinal degeneration" + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0012152", + "label": "Foveoschisis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:312700", + "label": "Retinoschisis 1, X-linked, juvenile" + } + } + ], + "metaData": { + "created": "2024-06-11T22:19:13.306852Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Rett_syndrome_congenital_variant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rett_syndrome_congenital_variant_patient_1.json new file mode 100644 index 000000000..9c575a770 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rett_syndrome_congenital_variant_patient_1.json @@ -0,0 +1,147 @@ +{ + "id": "rett_syndrome,_congenital_variant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031936", + "label": "Delayed ability to walk" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0002376", + "label": "Developmental regression" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0000411", + "label": "Protruding ear" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0002305", + "label": "Athetosis" + } + }, + { + "type": { + "id": "HP:0002020", + "label": "Gastroesophageal reflux" + } + }, + { + "type": { + "id": "HP:0030215", + "label": "Inappropriate crying" + } + }, + { + "type": { + "id": "HP:0007308", + "label": "Extrapyramidal dyskinesia" + } + }, + { + "type": { + "id": "HP:0000414", + "label": "Bulbous nose" + } + }, + { + "type": { + "id": "HP:0002194", + "label": "Delayed gross motor development" + } + }, + { + "type": { + "id": "HP:0007098", + "label": "Paroxysmal choreoathetosis" + } + }, + { + "type": { + "id": "HP:0011342", + "label": "Mild global developmental delay" + } + }, + { + "type": { + "id": "HP:0100547", + "label": "Abnormal forebrain morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613454", + "label": "Rett syndrome, congenital variant" + } + } + ], + "metaData": { + "created": "2024-06-11T18:53:05.646219Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + 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"label": "Exudative retinopathy" + } + }, + { + "type": { + "id": "HP:0031413", + "label": "Short telomere length" + } + }, + { + "type": { + "id": "HP:0001972", + "label": "Macrocytic anemia" + } + }, + { + "type": { + "id": "HP:0002370", + "label": "Poor coordination" + } + }, + { + "type": { + "id": "HP:0011408", + "label": "Moderate intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0002164", + "label": "Nail dysplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:268130", + "label": "Revesz syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:59:41.950234Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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"term": { + "id": "OMIM:617970", + "label": "Rh-null disease, amorph type" + } + } + ], + "metaData": { + "created": "2024-06-11T18:23:55.456050Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Rhabdoid_tumor_predisposition_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rhabdoid_tumor_predisposition_syndrome_1_patient_1.json new file mode 100644 index 000000000..459529520 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rhabdoid_tumor_predisposition_syndrome_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "rhabdoid_tumor_predisposition_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030392", + "label": "Choroid plexus carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609322", + "label": "Rhabdoid tumor predisposition syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:58:24.252664Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Rhabdoid_tumor_predisposition_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rhabdoid_tumor_predisposition_syndrome_2_patient_1.json new file mode 100644 index 000000000..f726131b7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rhabdoid_tumor_predisposition_syndrome_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "rhabdoid_tumor_predisposition_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034401", + "label": "Atypical teratoid/rhabdoid tumor" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613325", + "label": "Rhabdoid tumor predisposition syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:19:14.452810Z", + "createdBy": 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"rhabdomyolysis,_susceptibility_to,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003557", + "label": "Increased variability in muscle fiber diameter" + } + }, + { + "type": { + "id": "HP:0003326", + "label": "Myalgia" + } + }, + { + "type": { + "id": "HP:0008180", + "label": "Mildly elevated creatine kinase" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620235", + "label": "Rhabdomyolysis, susceptibility to, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:12:25.039631Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Rhabdomyosarcoma_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rhabdomyosarcoma_1_patient_1.json new file mode 100644 index 000000000..b99f06c7b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rhabdomyosarcoma_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "rhabdomyosarcoma_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006743", + "label": "Embryonal rhabdomyosarcoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:268210", + "label": "Rhabdomyosarcoma 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:35:38.587898Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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file mode 100644 index 000000000..3e480ccf7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rhabdomyosarcoma_embryonal_2_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "rhabdomyosarcoma,_embryonal,_2", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P9Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006743", + "label": "Embryonal rhabdomyosarcoma" + } + }, + { + "type": { + "id": "HP:0100528", + "label": "Pleuropulmonary blastoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:180295", + "label": "Rhabdomyosarcoma, embryonal, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:03:10.806145Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { 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"type": { + "id": "HP:0002923", + "label": "Rheumatoid factor positive" + } + }, + { + "type": { + "id": "HP:0002829", + "label": "Arthralgia" + } + }, + { + "type": { + "id": "HP:0011227", + "label": "Elevated circulating C-reactive protein concentration" + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + }, + { + "type": { + "id": "HP:0002960", + "label": "Autoimmunity" + } + }, + { + "type": { + "id": "HP:0001376", + "label": "Limitation of joint mobility" + } + }, + { + "type": { + "id": "HP:0005764", + "label": "Polyarticular arthritis" + } + }, + { + "type": { + "id": "HP:0001167", + "label": "Abnormal finger morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:180300", + "label": "Rheumatoid arthritis" + } + } + ], + "metaData": { + "created": "2024-06-11T18:21:45.562649Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0001371", + "label": "Flexion contracture" + } + }, + { + "type": { + "id": "HP:0000519", + "label": "Developmental cataract" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + }, + { + "type": { + "id": "HP:0030308", + "label": "Flared distal tibial metaphysis" + } + }, + { + "type": { + "id": "HP:0002188", + "label": "Delayed CNS myelination" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:215100", + "label": "Rhizomelic chondrodysplasia punctata, type 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:00:01.057176Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0003301", + "label": "Irregular vertebral endplates" + } + }, + { + "type": { + "id": "HP:0001371", + "label": "Flexion contracture" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0008838", + "label": "Stippled calcification proximal humeral epiphyses" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000176", + "label": "Submucous cleft hard palate" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0008905", + "label": "Rhizomelia" + } + }, + { + "type": { + "id": "HP:0010655", + "label": "Epiphyseal stippling" + } + }, + { + "type": { + "id": "HP:0001636", + "label": "Tetralogy of Fallot" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0008798", + "label": "Widened greater sciatic notch" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:222765", + "label": "Rhizomelic chondrodysplasia punctata, type 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:12:22.413796Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Rhizomelic_chondrodysplasia_punctata_type_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rhizomelic_chondrodysplasia_punctata_type_3_patient_1.json new file mode 100644 index 000000000..fb59d2c74 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rhizomelic_chondrodysplasia_punctata_type_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "rhizomelic_chondrodysplasia_punctata,_type_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003097", + "label": "Short femur" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600121", + "label": "Rhizomelic chondrodysplasia punctata, type 3" + } + } + ], + "metaData": { + "created": "2024-06-11T21:02:59.234894Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Rhizomelic_chondrodysplasia_punctata_type_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rhizomelic_chondrodysplasia_punctata_type_5_patient_1.json new file mode 100644 index 000000000..b74d0c86c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rhizomelic_chondrodysplasia_punctata_type_5_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "rhizomelic_chondrodysplasia_punctata,_type_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" + } + }, + { + "type": { + "id": "HP:0005792", + "label": "Short humerus" + } + }, + { + "type": { + "id": "HP:0009830", + "label": "Peripheral neuropathy" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0001265", + "label": "Hyporeflexia" + } + }, + { + "type": { + "id": "HP:0005041", + "label": "Irregular capital femoral epiphysis" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0002136", + "label": "Broad-based gait" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000517", + "label": "Abnormal lens morphology" + } + }, + { + "type": { + "id": "HP:0012653", + "label": "Status asthmaticus" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0032661", + "label": "Generalized convulsive status epilepticus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616716", + "label": "Rhizomelic chondrodysplasia punctata, type 5" + } + } + ], + "metaData": { + "created": "2024-06-11T18:09:04.864792Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Rhizomelic_dysplasia_Ain_Naz_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rhizomelic_dysplasia_Ain_Naz_type_patient_1.json new file mode 100644 index 000000000..22b02656c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rhizomelic_dysplasia_Ain_Naz_type_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "rhizomelic_dysplasia,_ain-naz_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001385", + "label": "Hip dysplasia" + } + }, + { + "type": { + "id": "HP:0005792", + "label": "Short humerus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619598", + "label": "Rhizomelic dysplasia, Ain-Naz type" + } + } + ], + "metaData": { + "created": "2024-06-11T22:53:36.021037Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", 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"HP:0010743", + "label": "Short metatarsal" + } + }, + { + "type": { + "id": "HP:0006507", + "label": "Aplasia/hypoplasia of the humerus" + } + }, + { + "type": { + "id": "HP:0002823", + "label": "Abnormal femur morphology" + } + }, + { + "type": { + "id": "HP:0009815", + "label": "Aplasia/hypoplasia of the extremities" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601438", + "label": "Rhizomelic dysplasia, Patterson-Lowry type" + } + } + ], + "metaData": { + "created": "2024-06-11T21:17:14.497583Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Rhizomelic_limb_shortening_with_dysmorphic_features_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rhizomelic_limb_shortening_with_dysmorphic_features_patient_1.json new file mode 100644 index 000000000..73b19eb41 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rhizomelic_limb_shortening_with_dysmorphic_features_patient_1.json @@ -0,0 +1,74 @@ +{ + "id": "rhizomelic_limb_shortening_with_dysmorphic_features", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040194", + "label": "Increased head circumference" + } + }, + { + "type": { + "id": "HP:0034669", + "label": "Abnormal knee morphology" + } + }, + { + "type": { + "id": "HP:0025668", + "label": 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"label": "Thickened calvaria" + } + }, + { + "type": { + "id": "HP:0004349", + "label": "Reduced bone mineral density" + } + }, + { + "type": { + "id": "HP:0000490", + "label": "Deeply set eye" + } + }, + { + "type": { + "id": "HP:0000597", + "label": "Ophthalmoparesis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602152", + "label": "Rhyns syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:56:57.897386Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ribbing_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ribbing_disease_patient_1.json new file mode 100644 index 000000000..8d80df671 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ribbing_disease_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ribbing_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003034", + "label": "Diaphyseal sclerosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601477", + "label": "Ribbing disease" + } + } + ], + "metaData": { + "created": "2024-06-12T01:06:40.097752Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Riboflavin_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Riboflavin_deficiency_patient_1.json new file mode 100644 index 000000000..d07315cd4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Riboflavin_deficiency_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "riboflavin_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002045", + "label": "Hypothermia" + } + }, + { + "type": { + "id": "HP:0001943", + "label": "Hypoglycemia" + } + }, + { + "type": { + "id": "HP:0001254", + "label": "Lethargy" + }, + "onset": { + 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"https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ribose_5_phosphate_isomerase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ribose_5_phosphate_isomerase_deficiency_patient_1.json new file mode 100644 index 000000000..4f29b0afa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ribose_5_phosphate_isomerase_deficiency_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "ribose_5-phosphate_isomerase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0025550", + "label": "Elevated circulating ribitol concentration" + } + }, + { + "type": { + "id": "HP:0034894", + "label": "Elevated brain polyol compounds by MRS" + } + }, + { + "type": { + "id": "HP:0410055", + "label": "Decreased level of erythritol in urine" + } + }, + { + "type": { + "id": "HP:0007141", + "label": "Sensorimotor neuropathy" + } + }, + { + "type": { + "id": "HP:0002311", + "label": "Incoordination" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0001271", + "label": "Polyneuropathy" + } + }, + { + "type": { + "id": "HP:0410073", + "label": "Increased CSF ribose concentration" + } + }, + { + "type": { + "id": "HP:0410070", + "label": "Increased level of ribitol in urine" + } + }, + { + "type": { + "id": "HP:0410058", + "label": "Increased CSF D-threitol concentration" + } + }, + { + "type": { + "id": "HP:0033354", + "label": "Abnormal urine metabolite level" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0000587", + "label": "Abnormal optic nerve morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608611", + "label": "Ribose 5-phosphate isomerase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T20:34:10.903925Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Richieri_Costa_guion_Almeida_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Richieri_Costa_guion_Almeida_syndrome_patient_1.json new file mode 100644 index 000000000..0b9cf772f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Richieri_Costa_guion_Almeida_syndrome_patient_1.json @@ -0,0 +1,159 @@ +{ + "id": "richieri-costa/guion-almeida_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000303", + "label": "Mandibular prognathia" + } + }, + { + "type": { + "id": "HP:0003298", + "label": "Spina bifida occulta" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0000204", + "label": "Cleft upper lip" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0000276", + "label": "Long face" + } + }, + { + "type": { + "id": "HP:0000336", + "label": "Prominent supraorbital ridges" + } + }, + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0004322", 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Right_ventricular_hypoplasia_isolated_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "right_ventricular_hypoplasia,_isolated", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004762", + "label": "Hypoplasia of right ventricle" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:277200", + "label": "Right ventricular hypoplasia, isolated" + } + } + ], + "metaData": { + "created": "2024-06-11T21:09:07.710269Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": 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the urethral meatus" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:180849", + "label": "Rubinstein-Taybi syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:58:15.546798Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Rubinstein_Taybi_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rubinstein_Taybi_syndrome_2_patient_1.json new file mode 100644 index 000000000..509a4641a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rubinstein_Taybi_syndrome_2_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "rubinstein-taybi_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0001991", + "label": "Aplasia/Hypoplasia of toe" + } + }, + { + "type": { + "id": "HP:0002705", + "label": "High, narrow palate" + } + }, + { + "type": { + "id": "HP:0012758", + "label": "Neurodevelopmental delay" + } + }, + { + "type": { + "id": "HP:0000670", + "label": "Carious teeth" + } + }, + { + "type": { + "id": "HP:0001211", + "label": "Abnormal fingertip morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613684", + "label": "Rubinstein-Taybi syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:29:44.653361Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Rudiger_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rudiger_syndrome_patient_1.json new file mode 100644 index 000000000..3c78140e1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rudiger_syndrome_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "rudiger_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000054", + "label": "Micropenis" + } + }, + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0001615", + "label": "Hoarse cry" + } + }, + { + "type": { + "id": "HP:0031065", + "label": "Abnormal ovarian morphology" + } + }, + { + "type": { + "id": "HP:0000023", + "label": "Inguinal hernia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:268650", + "label": "Rudiger syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:13:28.151321Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ruijs_Aalfs_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ruijs_Aalfs_syndrome_patient_1.json new file mode 100644 index 000000000..d4282c052 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ruijs_Aalfs_syndrome_patient_1.json @@ -0,0 +1,153 @@ +{ + "id": "ruijs-aalfs_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000954", + "label": "Single transverse palmar crease" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0007819", + "label": "Presenile cataracts" + } + }, + { + "type": { + "id": "HP:0009049", + "label": "Peroneal muscle atrophy" + } + }, + { + "type": { + "id": "HP:0002996", + "label": "Limited elbow movement" + } + }, + { + "type": { + "id": "HP:0009124", + "label": "Abnormal adipose tissue morphology" + } + }, + { + "type": { + "id": "HP:0002750", + "label": "Delayed skeletal maturation" + } + }, + { + "type": { + "id": "HP:0000523", + "label": "Subcapsular cataract" + }, + "modifiers": [ + { + "id": "HP:0012832", + "label": "Bilateral" + } + ] + }, + { + "type": { + "id": "HP:0005824", + "label": "Clinodactyly of the 2nd toe" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + } + }, + { + "type": { + "id": "HP:0005659", + "label": "Thoracic kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0000325", + "label": "Triangular face" + } + }, + { + "type": { + "id": "HP:0009121", + "label": "Abnormal axial skeleton morphology" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0004771", + "label": "Premature graying of body hair" + } + }, + { + "type": { + "id": "HP:0001402", + "label": "Hepatocellular carcinoma" + } + }, + { + "type": { + "id": "HP:0004326", + "label": "Cachexia" + } + }, + { + "type": { + "id": "HP:0200021", + "label": "Down-sloping shoulders" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616200", + "label": "Ruijs-Aalfs syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:19:19.383939Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Rutherfurd_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rutherfurd_syndrome_patient_1.json new file mode 100644 index 000000000..deb92a09e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Rutherfurd_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "rutherfurd_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001131", + "label": "Corneal dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:180900", + "label": "Rutherfurd syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:45:54.138851Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ruvalcaba_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ruvalcaba_syndrome_patient_1.json new file mode 100644 index 000000000..16c74b7c9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ruvalcaba_syndrome_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "ruvalcaba_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000678", + "label": "Dental crowding" + } + }, + { + "type": { + "id": "HP:0002808", + "label": "Kyphosis" + } + }, + { + "type": { + "id": "HP:0010049", + "label": "Short metacarpal" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0001377", + "label": "Limited elbow extension" + } + }, + { + "type": { + "id": "HP:0002983", + "label": "Micromelia" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0000769", + "label": "Abnormality of the breast" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0100790", + "label": "Hernia" + } + }, + { + "type": { + "id": "HP:0031172", + "label": "Sectoral retinitis pigmentosa" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:180870", + "label": "Ruvalcaba syndrome" + } + } + ], + "metaData": { + "created": "2024-06-12T02:15:19.386286Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/SARCOSINEMIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/SARCOSINEMIA_patient_1.json new file mode 100644 index 000000000..6f25ee1f8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/SARCOSINEMIA_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "sarcosinemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010896", + "label": "Hypersarcosinemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:268900", + "label": "SARCOSINEMIA" + } + } + ], + "metaData": { + "created": "2024-06-11T21:29:01.167383Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/SCHIZENCEPHALY_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/SCHIZENCEPHALY_patient_1.json new file mode 100644 index 000000000..b51ebe1b2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/SCHIZENCEPHALY_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "schizencephaly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010636", + "label": "Schizencephaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:269160", + "label": "SCHIZENCEPHALY" + } + } + ], + "metaData": { + "created": "2024-06-11T21:47:35.096840Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/SIMHA_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/SIMHA_syndrome_patient_1.json new file mode 100644 index 000000000..bb3260a02 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/SIMHA_syndrome_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "simha_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0001488", + "label": "Bilateral ptosis" + } + }, + { + "type": { + "id": "HP:0002714", + "label": "Downturned corners of mouth" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0000411", + "label": "Protruding ear" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0031936", + "label": "Delayed ability to walk" + } + }, + { + "type": { + "id": "HP:0000664", + "label": "Synophrys" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0001845", + "label": "Overlapping toe" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0025335", + "label": "Delayed ability to stand" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619557", + "label": "SIMHA syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:07:19.274378Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/SKUNK_N_BUTYLMERCAPTAN_INABILITY_TO_SMELL_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/SKUNK_N_BUTYLMERCAPTAN_INABILITY_TO_SMELL_patient_1.json new file mode 100644 index 000000000..e916832a2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/SKUNK_N_BUTYLMERCAPTAN_INABILITY_TO_SMELL_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "skunk_n-butylmercaptan,_inability_to_smell", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000458", + "label": "Anosmia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:270350", + "label": "SKUNK N-BUTYLMERCAPTAN, INABILITY TO SMELL" + } + } + ], + "metaData": { + "created": "2024-06-11T22:21:16.937173Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/SPLENOMEGALY_SYNDROME_WITH_SPLENIC_GERMINAL_CENTER_HYPOPLASIA_ANDREDUCED_CIRCULATING_T_HELPER_CELLS_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/SPLENOMEGALY_SYNDROME_WITH_SPLENIC_GERMINAL_CENTER_HYPOPLASIA_ANDREDUCED_CIRCULATING_T_HELPER_CELLS_patient_1.json new file mode 100644 index 000000000..9f9afbec3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/SPLENOMEGALY_SYNDROME_WITH_SPLENIC_GERMINAL_CENTER_HYPOPLASIA_ANDREDUCED_CIRCULATING_T_HELPER_CELLS_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "splenomegaly_syndrome_with_splenic_germinal_center_hypoplasia_andreduced_circulating_t-helper_cells", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001744", + "label": "Splenomegaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:183350", + "label": "SPLENOMEGALY SYNDROME WITH SPLENIC GERMINAL CENTER HYPOPLASIA ANDREDUCED CIRCULATING T-HELPER CELLS" + } + } + ], + "metaData": { + "created": "2024-06-11T18:13:47.300795Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/SPONDYLOLISTHESIS_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/SPONDYLOLISTHESIS_patient_1.json new file mode 100644 index 000000000..a54b6a262 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/SPONDYLOLISTHESIS_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spondylolisthesis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008489", + "label": "Spondylolisthesis at L5-S1" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:184200", + "label": "SPONDYLOLISTHESIS" + } + } + ], + "metaData": { + 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} + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Saul_Wilson_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Saul_Wilson_syndrome_patient_1.json new file mode 100644 index 000000000..034f03c42 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Saul_Wilson_syndrome_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "saul-wilson_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000520", + "label": "Proptosis" + } + }, + { + "type": { + "id": "HP:0000592", + "label": "Blue sclerae" + } + }, + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0009193", + "label": "Pseudoepiphyses of the metacarpals" + } + }, + { + "type": { + "id": "HP:0002176", + "label": "Spinal cord compression" + } + }, + { + "type": { + "id": "HP:0003067", + "label": "Madelung deformity" + } + }, + { + "type": { + "id": "HP:0003015", + "label": "Flared metaphysis" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0010580", + "label": "Enlarged epiphyses" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0010230", + "label": "Cone-shaped epiphyses of the phalanges of the hand" + } + }, + { + "type": { + "id": "HP:0001875", + "label": "Neutropenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618150", + "label": "Saul-Wilson syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:31:42.602742Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": 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+ "label": "Bilateral cleft palate" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:181180", + "label": "Say syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:10:29.804865Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Scalp_defects_and_postaxial_polydactyly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Scalp_defects_and_postaxial_polydactyly_patient_1.json new file mode 100644 index 000000000..84bc1bdc4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Scalp_defects_and_postaxial_polydactyly_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "scalp_defects_and_postaxial_polydactyly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005696", + "label": "Postaxial polydactyly type A" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:181250", + "label": "Scalp defects and postaxial polydactyly" + } + } + ], + "metaData": { + "created": "2024-06-11T20:47:29.681375Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Scalp_ear_nipple_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Scalp_ear_nipple_syndrome_patient_1.json new file mode 100644 index 000000000..6a6ec4420 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Scalp_ear_nipple_syndrome_patient_1.json @@ -0,0 +1,291 @@ +{ + "id": "scalp-ear-nipple_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004691", + "label": "2-3 toe syndactyly" + } + }, + { + "type": { + "id": "HP:0040080", + "label": "Anteverted ears" + } + }, + { + "type": { + "id": "HP:0000385", + "label": "Small earlobe" + } + }, + { 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Scapuloperoneal_myopathy_X_linked_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Scapuloperoneal_myopathy_X_linked_dominant_patient_1.json new file mode 100644 index 000000000..3b5877c87 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Scapuloperoneal_myopathy_X_linked_dominant_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "scapuloperoneal_myopathy,_x-linked_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003236", + "label": "Elevated circulating creatine kinase concentration" + } + }, + { + "type": { + "id": "HP:0001265", + "label": "Hyporeflexia" + } + }, + { + "type": { + "id": "HP:0006380", + "label": "Knee flexion contracture" + } + }, + { + "type": { + "id": "HP:0003376", + "label": "Steppage gait" + } + }, + { + "type": { + "id": "HP:0003690", + "label": "Limb muscle weakness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300695", + "label": "Scapuloperoneal myopathy, X-linked dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T20:20:25.452167Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Scapuloperoneal_spinal_muscular_atrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Scapuloperoneal_spinal_muscular_atrophy_patient_1.json new file mode 100644 index 000000000..e3e56d8b6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Scapuloperoneal_spinal_muscular_atrophy_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "scapuloperoneal_spinal_muscular_atrophy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003555", + "label": "Muscle fiber splitting" + } + }, + { + "type": { + "id": "HP:0001385", + "label": "Hip dysplasia" + } + }, + { + "type": { + "id": "HP:0001284", + "label": "Areflexia" + } + }, + { + "type": { + "id": "HP:0009049", + "label": "Peroneal muscle atrophy" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0002136", + "label": "Broad-based gait" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:181405", + "label": "Scapuloperoneal spinal muscular atrophy" + } + } + ], + "metaData": { + "created": "2024-06-11T22:43:59.016006Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Scapuloperoneal_syndrome_neurogenic_Kaeser_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Scapuloperoneal_syndrome_neurogenic_Kaeser_type_patient_1.json new file mode 100644 index 000000000..da49fff5b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Scapuloperoneal_syndrome_neurogenic_Kaeser_type_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "scapuloperoneal_syndrome,_neurogenic,_kaeser_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003704", + "label": "Scapuloperoneal weakness" + } + }, + { + "type": { + "id": "HP:0003724", + "label": "Shoulder girdle muscle atrophy" + } + }, + { + "type": { + "id": "HP:0003805", + "label": "Rimmed vacuoles" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:181400", + "label": "Scapuloperoneal syndrome, neurogenic, Kaeser type" + } + } + ], + "metaData": { + "created": "2024-06-12T00:30:16.163880Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Scarf_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Scarf_syndrome_patient_1.json new file mode 100644 index 000000000..89ec76dbe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Scarf_syndrome_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "scarf_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000048", + "label": "Bifid scrotum" + } + }, + { + "type": { + "id": "HP:0000051", + "label": "Perineal hypospadias" + } + }, + { + "type": { + "id": "HP:0003312", + "label": "Abnormal form of the vertebral bodies" + } + }, + { + "type": { + "id": "HP:0006610", + "label": "Wide intermamillary distance" + } + }, + { + "type": { + "id": "HP:0000426", + "label": "Prominent nasal bridge" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0000023", + "label": "Inguinal hernia" + } + }, + { + "type": { + "id": "HP:0001540", + "label": "Diastasis recti" + } + }, + { + "type": { + "id": "HP:0000054", + "label": "Micropenis" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0004443", + "label": "Lambdoidal craniosynostosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:312830", + "label": "Scarf syndrome" + } + } + ], + "metaData": { + "created": "2024-06-12T01:06:38.128693Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Schaaf_Yang_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schaaf_Yang_syndrome_patient_1.json new file mode 100644 index 000000000..e54fd1a36 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schaaf_Yang_syndrome_patient_1.json @@ -0,0 +1,207 @@ +{ + "id": "schaaf-yang_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000729", + "label": "Autistic behavior" + } + }, + { + "type": { + "id": "HP:0001513", + "label": "Obesity" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0000565", + "label": "Esotropia" + } + }, + { + "type": { + "id": "HP:0012385", + "label": "Camptodactyly" + } + }, + { + "type": { + "id": "HP:0030084", + "label": "Clinodactyly" + } + }, + { + "type": { + "id": "HP:0001371", + "label": "Flexion contracture" + } + }, + { + "type": { + "id": "HP:0002540", + "label": "Inability to walk" + } + }, + { + "type": { + "id": "HP:0002007", + 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diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Scheuermann_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Scheuermann_disease_patient_1.json new file mode 100644 index 000000000..5eb828a0f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Scheuermann_disease_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "scheuermann_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010891", + "label": "Morbus Scheuermann" + } + }, + { + "type": { + "id": "HP:0010886", + "label": "Osteochondritis dissecans" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:181440", + "label": "Scheuermann disease" + } + } + ], + "metaData": { + "created": "2024-06-11T20:35:49.640670Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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"https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Schimmelpenning_Feuerstein_Mims_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schimmelpenning_Feuerstein_Mims_syndrome_patient_1.json new file mode 100644 index 000000000..a747f1166 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schimmelpenning_Feuerstein_Mims_syndrome_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "schimmelpenning-feuerstein-mims_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010815", + "label": "Nevus sebaceous" + } + }, + { + "type": { + "id": "HP:0002751", + "label": "Kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0008064", + "label": "Ichthyosis" + } + }, + { + "type": { + "id": "HP:0001548", + "label": "Overgrowth" + } + }, + { + "type": { + "id": "HP:0010817", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schindler_disease_type_I_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "schindler_disease,_type_i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:4000202", + "label": "Reduced alpha-N-acetylgalactosaminidase activity in cultured fibroblasts" + } + }, + { + "type": { + "id": "HP:0031718", + "label": "Consecutive exotropia" + } + }, + { + "type": { + "id": "HP:0009055", + "label": "Generalized limb muscle atrophy" + } + }, + { + "type": { + "id": "HP:0100704", + "label": "Cerebral visual impairment" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0020207", + "label": "Reflex seizure" + } + }, + { + "type": { + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Schizophrenia_19_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schizophrenia_19_patient_1.json new file mode 100644 index 000000000..758cdfd6c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schizophrenia_19_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "schizophrenia_19", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100753", + "label": "Schizophrenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617629", + "label": "Schizophrenia 19" + } + } + ], + "metaData": { + "created": "2024-06-11T23:02:51.338805Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schizophrenia_3_patient_1.json new file mode 100644 index 000000000..cffe1a88c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schizophrenia_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "schizophrenia_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100753", + "label": "Schizophrenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600511", + "label": "Schizophrenia 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:39:17.858110Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Schizophrenia_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schizophrenia_4_patient_1.json new file mode 100644 index 000000000..5dd2d8986 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schizophrenia_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "schizophrenia_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008358", + "label": "Hyperprolinemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600850", + "label": "Schizophrenia 4" + } + } + ], + "metaData": { + "created": "2024-06-11T20:41:34.241856Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Schizophrenia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schizophrenia_patient_1.json new file mode 100644 index 000000000..9076c0c72 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schizophrenia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "schizophrenia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007086", + "label": "Social and occupational deterioration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:181500", + "label": "Schizophrenia" + } + } + ], + "metaData": { + "created": "2024-06-11T21:57:40.703184Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Schneckenbecken_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schneckenbecken_dysplasia_patient_1.json new file mode 100644 index 000000000..b7baa4b45 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schneckenbecken_dysplasia_patient_1.json @@ -0,0 +1,153 @@ +{ + "id": "schneckenbecken_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031026", + "label": "Snail-like ilia" + } + }, + { + "type": { + "id": "HP:0005257", + "label": "Thoracic hypoplasia" + } + }, + { + "type": { + "id": "HP:0003180", + "label": "Flat acetabular roof" + } + }, + { + "type": { + "id": "HP:0003196", + "label": "Short nose" + } + }, + { + "type": { + "id": "HP:0008488", + "label": "Anterior rounding of vertebral bodies" + } + }, + { + "type": { + "id": "HP:0004220", + "label": "Short middle phalanx of the 5th finger" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0008438", + "label": "Vertebral arch anomaly" + } + }, + { + "type": { + "id": "HP:0000309", + "label": "Abnormal midface morphology" + } + }, + { + "type": { + "id": 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"2024-06-11T18:42:07.997253Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Scholte_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Scholte_syndrome_patient_1.json new file mode 100644 index 000000000..a90d2f6da --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Scholte_syndrome_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "scholte_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001272", + "label": "Cerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0000232", + "label": "Everted lower lip vermilion" + } + }, + { + "type": { + "id": "HP:0000054", + "label": "Micropenis" + } + }, + { + "type": { + "id": "HP:0200055", + "label": "Small hand" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0001773", + "label": "Short foot" + } + }, + { + "type": { + "id": "HP:0012243", + "label": "Abnormal reproductive system morphology" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0040063", + "label": "Decreased adipose tissue" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + }, + { + "type": { + "id": "HP:0000348", + "label": "High forehead" + } + }, + { + "type": { + "id": "HP:0030799", + "label": "Scaphocephaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300977", + "label": "Scholte syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:14:17.696273Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Schopf_Schulz_Passarge_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schopf_Schulz_Passarge_syndrome_patient_1.json new file mode 100644 index 000000000..1463ade39 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schopf_Schulz_Passarge_syndrome_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "schopf-schulz-passarge_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000982", + "label": "Palmoplantar keratoderma" + } + }, + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + }, + { + "type": { + "id": "HP:0034946", + "label": "Multiple eyelid margin cysts" + } + }, + { + "type": { + "id": "HP:0004768", + "label": "Sparse anterior scalp hair" + } + }, + { + "type": { + "id": "HP:0000668", + "label": "Hypodontia" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0011368", + "label": "Epidermal thickening" + } + }, + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + }, + { + "type": { + "id": "HP:0008404", + "label": "Nail dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:224750", + "label": "Schopf-Schulz-Passarge syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:27:38.313911Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Schuurs_Hoeijmakers_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schuurs_Hoeijmakers_syndrome_patient_1.json new file mode 100644 index 000000000..0ff2ed5c5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schuurs_Hoeijmakers_syndrome_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "schuurs-hoeijmakers_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0001195", + "label": "Single umbilical artery" + } + }, + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0001763", + "label": "Pes planus" + } + }, + { + "type": { + "id": "HP:0011098", + "label": "Speech apraxia" + } + }, + { + "type": { + "id": "HP:0001566", + "label": "Widely-spaced maxillary central incisors" + } + }, + { + "type": { + "id": "HP:0001833", + "label": "Long foot" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0000154", + "label": "Wide mouth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615009", + "label": "Schuurs-Hoeijmakers syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:11:16.317937Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Schwannomatosis_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schwannomatosis_2_patient_1.json new file mode 100644 index 000000000..4a0203a11 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schwannomatosis_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "schwannomatosis_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100008", + "label": "Schwannoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615670", + "label": "Schwannomatosis 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:41:49.551893Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Schwannomatosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schwannomatosis_patient_1.json new file mode 100644 index 000000000..00129fec0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schwannomatosis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "schwannomatosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010302", + "label": "Spinal cord tumor" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:162091", + "label": "Schwannomatosis" + } + } + ], + "metaData": { + "created": "2024-06-11T19:50:01.761406Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Schwartz_jampel_syndrome_type_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schwartz_jampel_syndrome_type_1_patient_1.json new file mode 100644 index 000000000..61b4fa9e8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Schwartz_jampel_syndrome_type_1_patient_1.json @@ -0,0 +1,255 @@ +{ + "id": "schwartz-jampel_syndrome,_type_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001763", + "label": "Pes planus" + } + }, + { + "type": { + "id": "HP:0006499", + "label": "Abnormal femoral epiphysis morphology" + } + }, + { + "type": { + "id": "HP:0003552", + "label": "Muscle stiffness" + } + }, + { + "type": { + "id": "HP:0003273", + "label": "Hip contracture" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0003016", + "label": "Metaphyseal widening" + } + }, + { + "type": { + "id": "HP:0003712", + "label": "Skeletal muscle hypertrophy" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0011120", + "label": "Concave nasal ridge" + } + }, + { + "type": { + "id": "HP:0001239", + "label": "Wrist flexion contracture" + } + }, 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+ "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Scleroderma_familial_progressive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Scleroderma_familial_progressive_patient_1.json new file mode 100644 index 000000000..ac9d6fda8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Scleroderma_familial_progressive_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "scleroderma,_familial_progressive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001009", + "label": "Telangiectasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:181750", + "label": "Scleroderma, familial progressive" + } + } + ], + "metaData": { + "created": "2024-06-11T18:21:58.169134Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Scott_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "scott_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:262890", + "label": "Scott syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:49:49.453841Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Sea_Blue_histiocyte_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sea_Blue_histiocyte_disease_patient_1.json new file mode 100644 index 000000000..f9cbd76a0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sea_Blue_histiocyte_disease_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "sea-blue_histiocyte_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011873", + "label": "Abnormal platelet count" + } + }, + { + "type": { + "id": "HP:0025408", + "label": "Abnormal spleen morphology" + } + }, + { + "type": { + "id": "HP:0001982", + "label": "Sea-blue histiocytosis" + } + }, + { + "type": { + "id": "HP:0012379", + "label": "Abnormal circulating enzyme concentration or activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:269600", + "label": "Sea-Blue histiocyte disease" + } + } + ], + "metaData": { + "created": "2024-06-11T22:35:30.638016Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Sebaceous_gland_hyperplasia_familial_presenile_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sebaceous_gland_hyperplasia_familial_presenile_patient_1.json new file mode 100644 index 000000000..0a5dae6c9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sebaceous_gland_hyperplasia_familial_presenile_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "sebaceous_gland_hyperplasia,_familial_presenile", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025507", + "label": "Yellow papule" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601700", + "label": "Sebaceous gland hyperplasia, familial presenile" + } + } + ], + "metaData": { + "created": "2024-06-12T02:19:58.826389Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Seborrhea_Like_dermatitis_with_psoriasiform_elements_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seborrhea_Like_dermatitis_with_psoriasiform_elements_patient_1.json new file mode 100644 index 000000000..f4af21551 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seborrhea_Like_dermatitis_with_psoriasiform_elements_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "seborrhea-like_dermatitis_with_psoriasiform_elements", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0008392", + "label": "Subungual hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610227", + "label": "Seborrhea-Like dermatitis with psoriasiform elements" + } + } + ], + "metaData": { + "created": "2024-06-11T23:21:07.861808Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_10_patient_1.json new file mode 100644 index 000000000..0e900347e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_10_patient_1.json @@ -0,0 +1,146 @@ +{ + "id": "seckel_syndrome_10", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P3Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001714", + "label": "Ventricular hypertrophy" + } + }, + { + "type": { + "id": "HP:0000956", + "label": "Acanthosis nigricans" + } + }, + { + "type": { + "id": "HP:0003100", + "label": "Slender long bone" + } + }, + { + "type": { + "id": "HP:0000855", + "label": "Insulin resistance" + } + }, + { + "type": { + "id": "HP:0031956", + "label": "Elevated circulating aspartate aminotransferase concentration" + } + }, + { + "type": { + "id": "HP:0003076", + "label": "Glycosuria" + } + }, + { + "type": { + "id": "HP:0000819", + "label": "Diabetes mellitus" + } + }, + { + "type": { + "id": "HP:0012371", + "label": "Hyperplasia of midface" + } + }, + { + "type": { + "id": "HP:0001952", + "label": "Glucose intolerance" + } + }, + { + "type": { + "id": "HP:0011969", + "label": "Elevated circulating luteinizing hormone level" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + } + }, + { + "type": { + "id": "HP:0040217", + "label": "Elevated hemoglobin A1c" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + }, + { + "type": { + "id": "HP:0003510", + "label": "Severe short stature" + } + }, + { + "type": { + "id": "HP:0011355", + "label": "Localized skin lesion" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617253", + "label": "Seckel syndrome 10" + } + } + ], + "metaData": { + "created": "2024-06-11T19:36:17.245948Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_1_patient_1.json new file mode 100644 index 000000000..e5ed29c18 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_1_patient_1.json @@ -0,0 +1,171 @@ +{ + "id": "seckel_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003083", + "label": "Dislocated radial head" + } + }, + { + "type": { + "id": "HP:0000324", + "label": "Facial asymmetry" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0000752", + "label": "Hyperactivity" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0003508", + "label": "Proportionate short stature" + } + }, + { + "type": { + "id": "HP:0001090", + "label": "Abnormally large globe" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0004209", + "label": "Clinodactyly of the 5th finger" + } + }, + { + "type": { + "id": "HP:0010583", + "label": "Ivory epiphyses" + } + }, + { + "type": { + "id": "HP:0002827", + "label": "Hip dislocation" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0000689", + "label": "Dental malocclusion" + } + }, + { + "type": { + "id": "HP:0001320", + "label": "Cerebellar vermis hypoplasia" + } + }, + { + "type": { + "id": "HP:0000237", + "label": "Small anterior fontanelle" + } + }, + { + "type": { + "id": "HP:0008883", + "label": "Mild intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0006442", + "label": "Hypoplasia of proximal fibula" + } + }, + { + "type": { + "id": "HP:0000340", + "label": "Sloping forehead" + } + }, + { + "type": { + "id": "HP:0009666", + "label": "Cone-shaped epiphysis of the proximal phalanx of the thumb" + } + }, + { + "type": { + "id": "HP:0410005", + "label": "Cleft hard palate" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:210600", + "label": "Seckel syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:48.266527Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_2_patient_1.json new file mode 100644 index 000000000..2157f1258 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_2_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "seckel_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001620", + "label": "High pitched voice" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0007633", + "label": "Bilateral microphthalmos" + } + }, + { + "type": { + "id": "HP:0006482", + "label": "Abnormal dental morphology" + } + }, + { + "type": { + "id": "HP:0001507", + "label": "Growth abnormality" + } + }, + { + "type": { + "id": "HP:0410219", + "label": "Hypoplasia of mandible relative to maxilla" + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + }, + { + "type": { + "id": "HP:0002514", + "label": "Cerebral calcification" + } + }, + { + "type": { + "id": "HP:0001317", + "label": "Abnormal cerebellum morphology" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0030809", + "label": "Abnormal tongue morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606744", + "label": "Seckel syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:47:09.197032Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_4_patient_1.json new file mode 100644 index 000000000..eab7cf7f0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_4_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "seckel_syndrome_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010455", + "label": "Steep acetabular roof" + } + }, + { + "type": { + "id": "HP:0001507", + "label": "Growth abnormality" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613676", + "label": "Seckel syndrome 4" + } + } + ], + "metaData": { + "created": "2024-06-11T23:30:48.414975Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_5_patient_1.json new file mode 100644 index 000000000..e9bd5ea35 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_5_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "seckel_syndrome_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004209", + "label": "Clinodactyly of the 5th finger" + } + }, + { + "type": { + "id": "HP:0000426", + "label": "Prominent nasal bridge" + } + }, + { + "type": { + "id": "HP:0000444", + "label": "Convex nasal ridge" + } + }, + { + "type": { + "id": "HP:0000324", + "label": "Facial asymmetry" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0001763", + "label": "Pes planus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613823", + "label": "Seckel syndrome 5" + } + } + ], + "metaData": { + "created": "2024-06-11T21:28:58.999539Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_6_patient_1.json new file mode 100644 index 000000000..521effdea --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_6_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "seckel_syndrome_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614728", + "label": "Seckel syndrome 6" + } + } + ], + "metaData": { + "created": "2024-06-11T19:15:04.037715Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_7_patient_1.json new file mode 100644 index 000000000..15e19e78d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_7_patient_1.json @@ -0,0 +1,128 @@ +{ + "id": "seckel_syndrome_7", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P4Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004626", + "label": "Lumbar scoliosis" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000448", + "label": "Prominent nose" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0000601", + "label": "Hypotelorism" + } + }, + { + "type": { + "id": "HP:0002750", + "label": "Delayed skeletal maturation" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0001385", + "label": "Hip dysplasia" + } + }, + { + "type": { + "id": "HP:0011344", + "label": "Severe global developmental delay" + } + }, + { + "type": { + "id": "HP:0003067", + "label": "Madelung deformity" + } + }, + { + "type": { + "id": "HP:0008684", + "label": "Aplasia/hypoplasia of the uterus" + } + }, + { + "type": { + "id": "HP:0005769", + "label": "Fifth finger distal phalanx clinodactyly" + } + }, + { + "type": { + "id": "HP:0001191", + "label": "Abnormal carpal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614851", + "label": "Seckel syndrome 7" + } + } + ], + "metaData": { + "created": "2024-06-11T18:34:28.891864Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_8_patient_1.json new file mode 100644 index 000000000..60c5f2b95 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_8_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "seckel_syndrome_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0004485", + "label": "Cessation of head growth" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0034234", + "label": "L-shaped kidney" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615807", + "label": "Seckel syndrome 8" + } + } + ], + "metaData": { + "created": "2024-06-11T19:15:27.500433Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_9_patient_1.json new file mode 100644 index 000000000..98f70ce6b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seckel_syndrome_9_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "seckel_syndrome_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0000276", + "label": "Long face" + } + }, + { + "type": { + "id": "HP:0000444", + "label": "Convex nasal ridge" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0001595", + "label": "Abnormal hair morphology" + } + }, + { + "type": { + "id": "HP:0034057", + "label": "Fetal anomaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616777", + "label": "Seckel syndrome 9" + } + } + ], + "metaData": { + "created": "2024-06-11T19:45:38.480829Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Second_metatarsal_metacarpal_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Second_metatarsal_metacarpal_syndrome_patient_1.json new file mode 100644 index 000000000..faa5f1f00 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Second_metatarsal_metacarpal_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "second_metatarsal-metacarpal_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005916", + "label": "Abnormal metacarpal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:269630", + "label": "Second metatarsal-metacarpal syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:42:16.161267Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0002254", + "label": "Intermittent diarrhea" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:269650", + "label": "Secretory component deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T18:27:40.050656Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Sedoheptulokinase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sedoheptulokinase_deficiency_patient_1.json new file mode 100644 index 000000000..74184488d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sedoheptulokinase_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "sedoheptulokinase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025157", + "label": "Increased urinary sedoheptulose" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617213", + "label": "Sedoheptulokinase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T23:15:45.461988Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance 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"HP:0002451", + "label": "Limb dystonia" + } + }, + { + "type": { + "id": "HP:0002071", + "label": "Abnormality of extrapyramidal motor function" + } + }, + { + "type": { + "id": "HP:0002063", + "label": "Rigidity" + } + }, + { + "type": { + "id": "HP:0003785", + "label": "Decreased CSF homovanillic acid concentration" + } + }, + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0002375", + "label": "Hypokinesia" + } + }, + { + "type": { + "id": "HP:0005346", + "label": "Abnormal facial expression" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605407", + "label": "Segawa syndrome, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-12T00:31:47.912270Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seizures_benign_familial_infantile_2_patient_1.json new file mode 100644 index 000000000..cda7f9a71 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seizures_benign_familial_infantile_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "seizures,_benign_familial_infantile,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032661", + "label": "Generalized convulsive status epilepticus" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605751", + "label": "Seizures, benign familial infantile, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:22:07.897040Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Seizures_benign_familial_infantile_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seizures_benign_familial_infantile_3_patient_1.json new file mode 100644 index 000000000..412745e92 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seizures_benign_familial_infantile_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "seizures,_benign_familial_infantile,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032662", + "label": "Focal-onset seizure evolving into bilateral convulsive status epilepticus" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607745", + "label": "Seizures, benign familial infantile, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T17:58:00.469660Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Seizures_benign_familial_infantile_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seizures_benign_familial_infantile_5_patient_1.json new file mode 100644 index 000000000..117d480e0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seizures_benign_familial_infantile_5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "seizures,_benign_familial_infantile,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002069", + "label": "Bilateral tonic-clonic seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617080", + "label": "Seizures, benign familial infantile, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T20:32:19.983066Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Seizures_benign_familial_neonatal_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seizures_benign_familial_neonatal_1_patient_1.json new file mode 100644 index 000000000..232d6c752 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seizures_benign_familial_neonatal_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "seizures,_benign_familial_neonatal,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:121200", + "label": "Seizures, benign familial neonatal, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:38:13.081068Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Seizures_cortical_blindness_and_microcephaly_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seizures_cortical_blindness_and_microcephaly_syndrome_patient_1.json new file mode 100644 index 000000000..637770426 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Seizures_cortical_blindness_and_microcephaly_syndrome_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "seizures,_cortical_blindness,_and_microcephaly_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + }, + { + "type": { + "id": "HP:0002079", + "label": "Hypoplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0100704", + "label": "Cerebral visual impairment" + } + }, + { + "type": { + "id": "HP:0003561", + "label": "Birth length less than 3rd percentile" + } + }, + { + "type": { + "id": "HP:0011344", + "label": "Severe global developmental delay" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616632", + "label": "Seizures, cortical blindness, and microcephaly syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:26:20.793548Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Seizures_early_onset_with_neurodegeneration_and_brain_calcification_patient_1.json 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Senior_Loken_syndrome_5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "senior-loken_syndrome_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000090", + "label": "Nephronophthisis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609254", + "label": "Senior-Loken syndrome 5" + } + } + ], + "metaData": { + "created": "2024-06-11T20:22:30.285732Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Senior_Loken_syndrome_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Senior_Loken_syndrome_6_patient_1.json new file mode 100644 index 000000000..bf5588a92 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Senior_Loken_syndrome_6_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "senior-loken_syndrome_6", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P8Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610189", + "label": "Senior-Loken syndrome 6" + } + } + ], + "metaData": { + "created": "2024-06-11T19:17:25.095069Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Senior_Loken_syndrome_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Senior_Loken_syndrome_7_patient_1.json new file mode 100644 index 000000000..259f11e28 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Senior_Loken_syndrome_7_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "senior-loken_syndrome_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000090", + "label": "Nephronophthisis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613615", + "label": "Senior-Loken syndrome 7" + } + } + ], + "metaData": { + "created": "2024-06-11T21:51:27.597264Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Senior_Loken_syndrome_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Senior_Loken_syndrome_8_patient_1.json new file mode 100644 index 000000000..dc7a1c45c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Senior_Loken_syndrome_8_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "senior-loken_syndrome_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0003774", + "label": "Stage 5 chronic kidney disease" + } + }, + { + "type": { + "id": "HP:0010442", + "label": "Polydactyly" + } + }, + { + "type": { + "id": "HP:0012440", + "label": "Abnormal biliary tract morphology" + } + }, + { + "type": { + "id": "HP:0001017", + "label": "Anemic pallor" + } + }, + { + "type": { + "id": "HP:0000090", + "label": "Nephronophthisis" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0025015", + "label": "Abnormal vascular morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616307", + "label": "Senior-Loken syndrome 8" + } + } + ], + "metaData": { + "created": "2024-06-11T18:25:06.627015Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Senior_Loken_syndrome_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Senior_Loken_syndrome_9_patient_1.json new file mode 100644 index 000000000..37c5a8240 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Senior_Loken_syndrome_9_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "senior-loken_syndrome_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001395", + "label": "Hepatic fibrosis" + } + }, + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + }, + { + "type": { + "id": "HP:0004743", + "label": "Chronic tubulointerstitial nephritis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616629", + "label": "Senior-Loken syndrome 9" + } + } + ], + "metaData": { + "created": "2024-06-11T19:57:05.228670Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + 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+ }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0031162", + "label": "Impaired oropharyngeal swallow response" + } + }, + { + "type": { + "id": "HP:0033685", + "label": "Fiber type grouping" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0002578", + "label": "Gastroparesis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607459", + "label": "Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis" + } + } + ], + "metaData": { + "created": "2024-06-11T21:23:16.636245Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Sertoli_cell_only_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sertoli_cell_only_syndrome_patient_1.json new file mode 100644 index 000000000..071acf565 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sertoli_cell_only_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "sertoli_cell-only_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000771", + "label": "Gynecomastia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:305700", + "label": "Sertoli cell-only syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:28:02.590810Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Sessile_serrated_polyposis_cancer_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sessile_serrated_polyposis_cancer_syndrome_patient_1.json new file mode 100644 index 000000000..9d8098a2f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sessile_serrated_polyposis_cancer_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "sessile_serrated_polyposis_cancer_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032222", + "label": "Serrated intestinal polyps" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617108", + "label": "Sessile serrated polyposis cancer syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:59:08.970753Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Severe_combined_immunodeficiency_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Severe_combined_immunodeficiency_X_linked_patient_1.json new file mode 100644 index 000000000..59f9fa88a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Severe_combined_immunodeficiency_X_linked_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "severe_combined_immunodeficiency,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000778", + "label": "Hypoplasia of the thymus" + } + }, + { + "type": { + "id": "HP:0005479", + "label": "Decreased circulating IgE" + } + }, + { + "type": { + "id": "HP:0002090", + "label": "Pneumonia" + } + }, + { + "type": { + "id": "HP:0012178", + "label": "Reduced natural killer cell activity" + } + }, + { + "type": { + "id": "HP:0004430", + "label": "Severe combined immunodeficiency" + } + }, + { + "type": { + "id": "HP:0002028", + "label": "Chronic diarrhea" + } + }, + { + "type": { + "id": "HP:0004432", + "label": "Agammaglobulinemia" + } + }, + { + "type": { + "id": "HP:0005403", + "label": "T lymphocytopenia" + } + }, + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300400", + "label": "Severe combined immunodeficiency, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-12T02:21:58.220818Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Severe_combined_immunodeficiency_autosomal_recessive_T_cell_negative_B_cell_negative_NK_cell_negative_due_to_adenosine_deaminase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Severe_combined_immunodeficiency_autosomal_recessive_T_cell_negative_B_cell_negative_NK_cell_negative_due_to_adenosine_deaminase_deficiency_patient_1.json new file mode 100644 index 000000000..b132e243f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Severe_combined_immunodeficiency_autosomal_recessive_T_cell_negative_B_cell_negative_NK_cell_negative_due_to_adenosine_deaminase_deficiency_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "severe_combined_immunodeficiency,_autosomal_recessive,_t_cell-negative,_b_cell-negative,_nk_cell-negative,_due_to_adenosine_deaminase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004430", + "label": "Severe 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of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Severe_combined_immunodeficiency_autosomal_recessive_T_cell_negative_B_cell_negative_NK_cell_positive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Severe_combined_immunodeficiency_autosomal_recessive_T_cell_negative_B_cell_negative_NK_cell_positive_patient_1.json new file mode 100644 index 000000000..a347b6fd0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Severe_combined_immunodeficiency_autosomal_recessive_T_cell_negative_B_cell_negative_NK_cell_positive_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "severe_combined_immunodeficiency,_autosomal_recessive,_t_cell-negative,_b_cell-negative,_nk_cell-positive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0001369", + "label": "Arthritis" + } + }, + { + "type": { + "id": "HP:0001287", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Short_stature_with_nonspecific_skeletal_abnormalities_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "short_stature_with_nonspecific_skeletal_abnormalities", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003508", + "label": "Proportionate short stature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616255", + "label": "Short stature with nonspecific skeletal abnormalities" + } + } + ], + "metaData": { + "created": "2024-06-12T00:30:07.979379Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + 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at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Silver_Russell_syndrome_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Silver_Russell_syndrome_4_patient_1.json new file mode 100644 index 000000000..4500974f9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Silver_Russell_syndrome_4_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "silver-russell_syndrome_4", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003561", + "label": "Birth length less than 3rd percentile" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000325", + "label": "Triangular face" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618907", + "label": "Silver-Russell syndrome 4" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sjogren_Larsson_syndrome_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "sjogren-larsson_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030501", + "label": "Macular crystals" + } + }, + { + "type": { + "id": "HP:0030329", + "label": "Retinal thinning" + } + }, + { + "type": { + "id": "HP:0007727", + "label": "Opacification of the corneal epithelium" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0008064", + "label": "Ichthyosis" + } + }, + { + "type": { + "id": "HP:0002313", + "label": "Spastic paraparesis" + } + }, + { + "type": { + "id": "HP:0008064", + "label": "Ichthyosis" + } + }, + { + "type": { + "id": "HP:0007305", + "label": "CNS demyelination" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Skin_creases_congenital_symmetric_circumferential_1_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "skin_creases,_congenital_symmetric_circumferential,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034400", + "label": "Circumferential skin creases on extremities" + } + }, + { + "type": { + "id": "HP:0001305", + "label": "Dandy-Walker malformation" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0000160", + "label": "Narrow mouth" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + 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"HP:0003307", + "label": "Hyperlordosis" + } + }, + { + "type": { + "id": "HP:0003025", + "label": "Metaphyseal irregularity" + } + }, + { + "type": { + "id": "HP:0006009", + "label": "Broad phalanx" + } + }, + { + "type": { + "id": "HP:0003071", + "label": "Flattened epiphysis" + } + }, + { + "type": { + "id": "HP:0002857", + "label": "Genu valgum" + } + }, + { + "type": { + "id": "HP:0001783", + "label": "Broad metatarsal" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0001377", + "label": "Limited elbow extension" + } + }, + { + "type": { + "id": "HP:0000768", + "label": "Pectus carinatum" + } + }, + { + "type": { + "id": "HP:0001384", + "label": "Abnormal hip joint morphology" + } + }, + { + "type": { + "id": "HP:0001367", + "label": "Abnormal joint morphology" + } + }, + { + "type": { + "id": "HP:0006429", + "label": "Broad femoral neck" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0008812", + "label": "Flattened femoral head" + } + }, + { + "type": { + "id": "HP:0003310", + "label": "Abnormal odontoid process morphology" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0040069", + "label": "Abnormal lower limb bone morphology" + } + }, + { + "type": { + "id": "HP:0005914", + "label": "Aplasia/Hypoplasia involving the metacarpal bones" + } + }, + { + "type": { + "id": "HP:0008929", + "label": "Asymmetric short stature" + } + }, + { + "type": { + "id": "HP:0012428", + "label": "Prominent calcaneus" + } + }, + { + "type": { + "id": "HP:0011910", + "label": "Shortening of all phalanges of fingers" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615222", + "label": "Smith-Mccort dysplasia 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:30:49.992372Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Sneddon_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sneddon_syndrome_patient_1.json new file mode 100644 index 000000000..620b936db --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sneddon_syndrome_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "sneddon_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001888", + "label": "Lymphopenia" + } + }, + { + "type": { + "id": "HP:0001075", + "label": "Atrophic scars" + } + }, + { + "type": { + "id": "HP:0033505", + "label": "Livedo reticularis" + } + }, + { + "type": { + "id": "HP:0011276", + "label": "Vascular skin abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:182410", + "label": "Sneddon syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:13:49.857569Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Snijders_Blok_Campeau_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Snijders_Blok_Campeau_syndrome_patient_1.json new file mode 100644 index 000000000..28ad0aa9c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Snijders_Blok_Campeau_syndrome_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "snijders_blok-campeau_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000256", + "label": "Macrocephaly" + } + }, + { + "type": { + "id": "HP:0002317", + "label": "Unsteady gait" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0012758", + "label": "Neurodevelopmental delay" + } + }, + { + "type": { + "id": "HP:0011567", + "label": "Sinus venosus atrial septal defect" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618205", + "label": "Snijders Blok-Campeau syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:18:18.966057Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Snijders_Blok_Fisher_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Snijders_Blok_Fisher_syndrome_patient_1.json new file mode 100644 index 000000000..b4ff3d85d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Snijders_Blok_Fisher_syndrome_patient_1.json @@ -0,0 +1,122 @@ +{ + "id": "snijders_blok-fisher_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0000378", + "label": "Cupped ear" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0002179", + "label": "Opisthotonus" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000411", + "label": "Protruding ear" + } + }, + { + "type": { + "id": "HP:0002307", + "label": "Drooling" + } + }, + { + "type": { + "id": "HP:0006849", + "label": "Hypodysplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618604", + "label": "Snijders Blok-Fisher syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:57:11.716861Z", + "createdBy": 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"snowflake_vitreoretinal_degeneration", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:193230", + "label": "Snowflake vitreoretinal degeneration" + } + } + ], + "metaData": { + "created": "2024-06-11T18:32:52.210200Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Sodium_Potassium_Atpase_activity_of_red_cell_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sodium_Potassium_Atpase_activity_of_red_cell_patient_1.json new file mode 100644 index 000000000..00d402055 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sodium_Potassium_Atpase_activity_of_red_cell_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "sodium-potassium-atpase_activity_of_red_cell", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001939", + "label": "Abnormality of metabolism/homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:270425", + "label": "Sodium-Potassium-Atpase activity of red cell" + } + } + ], + "metaData": { + "created": "2024-06-11T21:46:44.793049Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Solitary_median_maxillary_central_incisor_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Solitary_median_maxillary_central_incisor_patient_1.json new file mode 100644 index 000000000..eeef42148 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Solitary_median_maxillary_central_incisor_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "solitary_median_maxillary_central_incisor", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009914", + "label": "Cyclopia" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0011064", + "label": "Abnormal number of incisors" + } + }, + { + "type": { + "id": "HP:0100789", + "label": "Torus palatinus" + } + }, + { + "type": { + "id": "HP:0033579", + "label": "Decreased growth hormone responses to growth hormone-releasing hormone challenge" + } + }, + { + "type": { + "id": "HP:0010643", + "label": "Midnasal atresia" + } + }, + { + "type": { + "id": "HP:0002708", + "label": "Prominent median palatal raphe" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0005484", + "label": "Secondary microcephaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:147250", + "label": "Solitary median maxillary central incisor" + } + } + ], + "metaData": { + "created": "2024-06-11T22:44:07.300535Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Sonoda_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sonoda_syndrome_patient_1.json new file mode 100644 index 000000000..ad1763339 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sonoda_syndrome_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "sonoda_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000160", + "label": "Narrow mouth" + } + }, + { + "type": { + "id": "HP:0001042", + "label": "High axial triradius" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:270460", + "label": "Sonoda syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:00:50.253984Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Sorbitol_dehydrogenase_deficiency_with_peripheral_neuropathy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sorbitol_dehydrogenase_deficiency_with_peripheral_neuropathy_patient_1.json new file mode 100644 index 000000000..c71e98175 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sorbitol_dehydrogenase_deficiency_with_peripheral_neuropathy_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "sorbitol_dehydrogenase_deficiency_with_peripheral_neuropathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618912", + "label": "Sorbitol dehydrogenase deficiency with peripheral neuropathy" + } + } + ], + "metaData": { + "created": "2024-06-12T02:22:00.149807Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Sorsby_fundus_dystrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sorsby_fundus_dystrophy_patient_1.json new file mode 100644 index 000000000..c32d0b9bf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sorsby_fundus_dystrophy_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_ataxia_7_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_ataxia_7_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..83f0cd062 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_ataxia_7_autosomal_dominant_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "spastic_ataxia_7,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0002075", + "label": "Dysdiadochokinesis" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0007686", + "label": "Abnormal pupillary function" + } + } + ], + "diseases": [ + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_ataxia_8_autosomal_recessive_with_hypomyelinating_leukodystrophy_patient_1.json new file mode 100644 index 000000000..2597b2f3a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_ataxia_8_autosomal_recessive_with_hypomyelinating_leukodystrophy_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "spastic_ataxia_8,_autosomal_recessive,_with_hypomyelinating_leukodystrophy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0000570", + "label": "Abnormal saccadic eye movements" + } + }, + { + "type": { + "id": "HP:0000297", + "label": "Facial hypotonia" + } + }, + { + "type": { + "id": "HP:0007034", + "label": "Generalized hyperreflexia" + } + }, + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + } + }, + { + "type": { + "id": "HP:0012080", + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_ataxia_9_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_ataxia_9_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..3340f43c7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_ataxia_9_autosomal_recessive_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "spastic_ataxia_9,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031993", + "label": "Hoffmann sign" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001310", + "label": "Dysmetria" + } + }, + { + "type": { + "id": "HP:0002359", + "label": "Frequent falls" + } + }, + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0007941", + "label": "Limited extraocular movements" + } + }, + { + "type": { 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_ataxia_Charlevoix_Saguenay_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_ataxia_Charlevoix_Saguenay_type_patient_1.json new file mode 100644 index 000000000..8585dee7c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_ataxia_Charlevoix_Saguenay_type_patient_1.json @@ -0,0 +1,176 @@ +{ + "id": "spastic_ataxia,_charlevoix-saguenay_type", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P56Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002493", + "label": "Upper motor neuron dysfunction" + } + }, + { + "type": { + "id": "HP:0002497", + "label": "Spastic ataxia" + } + }, + { + "type": { + "id": "HP:0006855", + "label": "Cerebellar vermis atrophy" + } + }, + { + "type": { + "id": "HP:0003448", + "label": "Decreased sensory nerve conduction velocity" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paralysis_infantile_onset_ascending_patient_1.json @@ -0,0 +1,86 @@ +{ + "id": "spastic_paralysis,_infantile-onset_ascending", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P11Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002492", + "label": "Abnormal corticospinal tract morphology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0002493", + "label": "Upper motor neuron dysfunction" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraparesis_and_deafness_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "spastic_paraparesis_and_deafness", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0012717", + "label": "Severe conductive hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:312910", + "label": "Spastic paraparesis and deafness" + } + } + ], + "metaData": { + "created": "2024-06-11T20:38:54.784136Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_12_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_12_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..faddd98f0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_12_autosomal_dominant_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "spastic_paraplegia_12,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011448", + "label": "Ankle clonus" + } + }, + { + "type": { + "id": "HP:0000012", + "label": "Urinary urgency" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0010551", + "label": "Paraplegia/paraparesis" + } + }, + { + "type": { + "id": "HP:0033203", + "label": "Brachioradialis hyperreflexia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604805", + 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+++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_13_autosomal_dominant_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "spastic_paraplegia_13,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000020", + "label": "Urinary incontinence" + } + }, + { + "type": { + "id": "HP:0002061", + "label": "Lower limb spasticity" + } + }, + { + "type": { + "id": "HP:0001258", + "label": "Spastic paraplegia" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0002839", + "label": "Urinary bladder sphincter dysfunction" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605280", + "label": "Spastic paraplegia 13, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T20:44:57.529035Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0007340", + "label": "Lower limb muscle weakness" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0002061", + "label": "Lower limb spasticity" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605229", + "label": "Spastic paraplegia 14, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-12T00:30:17.081984Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_15_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_15_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..6394b8145 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_15_autosomal_recessive_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "spastic_paraplegia_15,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002607", + "label": "Bowel incontinence" + } + }, + { + "type": { + "id": "HP:0007875", + "label": "Congenital blindness" + } + }, + { + "type": { + "id": "HP:0008963", + "label": "Tibialis muscle weakness" + } + }, + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:270700", + "label": "Spastic paraplegia 15, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T18:46:17.608644Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_16_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_16_X_linked_patient_1.json new file mode 100644 index 000000000..3d053df44 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_16_X_linked_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "spastic_paraplegia_16,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0002445", + "label": "Tetraplegia" + } + }, + { + "type": { + "id": "HP:0002839", + "label": "Urinary bladder sphincter dysfunction" + } + }, + { + "type": { + "id": "HP:0009882", + "label": "Short distal phalanx of finger" + } + }, + { + "type": { + "id": "HP:0000297", + "label": "Facial hypotonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300266", + "label": "Spastic paraplegia 16, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T22:01:47.115189Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_17_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_17_patient_1.json new file mode 100644 index 000000000..b89a8db1c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_17_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "spastic_paraplegia_17", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0002166", + "label": "Impaired vibration sensation in the lower limbs" + } + }, + { + "type": { + "id": "HP:0002460", + "label": "Distal muscle weakness" + } + }, + { + "type": { + "id": "HP:0003431", + "label": "Decreased motor nerve conduction velocity" + } + }, + { + "type": { + "id": "HP:0001258", + "label": "Spastic paraplegia" + } + }, + { + "type": { + "id": "HP:0002174", + "label": "Postural tremor" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:270685", + "label": "Spastic paraplegia 17" + } + } + ], + "metaData": { + "created": "2024-06-11T22:42:31.092713Z", + "createdBy": 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"id": "spastic_paraplegia_18a,_autosomal_dominant", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P76Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0007340", + "label": "Lower limb muscle weakness" + } + }, + { + "type": { + "id": "HP:0004305", + "label": "Involuntary movements" + } + }, + { + "type": { + "id": "HP:0011442", + "label": "Abnormal central motor function" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620512", + "label": "Spastic paraplegia 18A, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T19:19:45.316479Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_18_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_18_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..f0426159d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_18_autosomal_recessive_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "spastic_paraplegia_18,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0033205", + "label": "Biceps hyperreflexia" + } + }, + { + "type": { + "id": "HP:0001371", + "label": "Flexion contracture" + } + }, + { + "type": { + "id": "HP:0007020", + "label": "Progressive spastic paraplegia" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611225", + "label": "Spastic paraplegia 18, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T20:08:16.403718Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_19_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_19_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..577cd8fd1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_19_autosomal_dominant_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spastic_paraplegia_19,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011448", + "label": "Ankle clonus" + } + }, + { + "type": { + "id": "HP:0011449", + "label": "Knee clonus" + } + }, + { + "type": { + "id": "HP:0000012", + "label": "Urinary urgency" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607152", + "label": "Spastic paraplegia 19, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T19:21:44.485398Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_20_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_20_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..58b7c5fb9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_20_autosomal_recessive_patient_1.json @@ -0,0 +1,171 @@ +{ + "id": "spastic_paraplegia_20,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0011342", + "label": "Mild global developmental delay" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0010551", + "label": "Paraplegia/paraparesis" + } + }, + { + "type": { + "id": "HP:0003690", + "label": "Limb muscle weakness" + } + }, + { + "type": { + "id": "HP:0002011", + "label": "Morphological central nervous system abnormality" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0006938", + "label": "Impaired vibration sensation at ankles" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0007199", + "label": "Progressive spastic paraparesis" + } + }, + { + "type": { + "id": "HP:0002828", + "label": "Multiple joint contractures" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0032988", + "label": "Persistent head lag" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + }, + { + "type": { + "id": "HP:0005922", + "label": "Abnormal hand morphology" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0040069", + "label": "Abnormal lower limb bone morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:275900", + "label": "Spastic paraplegia 20, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T19:20:08.874400Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_23_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_23_patient_1.json new file mode 100644 index 000000000..2e7d24912 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_23_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "spastic_paraplegia_23", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002505", + "label": "Loss of ambulation" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0009121", + "label": "Abnormal axial skeleton morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:270750", + "label": "Spastic paraplegia 23" + } + } + ], + "metaData": { + "created": "2024-06-11T21:17:06.641593Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_24_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_24_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..1cc5dff82 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_24_autosomal_recessive_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spastic_paraplegia_24,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003698", + "label": "Difficulty standing" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607584", + "label": "Spastic paraplegia 24, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T17:59:00.035664Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_25_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_25_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..2ef9ed2fe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_25_autosomal_recessive_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spastic_paraplegia_25,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001258", + "label": "Spastic paraplegia" + } + }, + { + "type": { + "id": "HP:0003418", + "label": "Back pain" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608220", + "label": "Spastic paraplegia 25, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T22:14:47.174903Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0002061", + "label": "Lower limb spasticity" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0007340", + "label": "Lower limb muscle weakness" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0000012", + "label": "Urinary urgency" + } + }, + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0006986", + "label": "Upper limb spasticity" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0008944", + "label": "Distal lower limb amyotrophy" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609195", + "label": "Spastic paraplegia 26, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T18:58:59.036829Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_27_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_27_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..e648f9e0c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_27_autosomal_recessive_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spastic_paraplegia_27,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002313", + "label": "Spastic paraparesis" + } + }, + { + "type": { + "id": "HP:0006938", + "label": "Impaired vibration sensation at ankles" + } + }, + { + "type": { + "id": "HP:0005340", + "label": "Spastic/hyperactive bladder" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609041", + "label": "Spastic paraplegia 27, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T20:49:28.572308Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_28_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_28_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..68c02360e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_28_autosomal_recessive_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "spastic_paraplegia_28,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0007340", + "label": "Lower limb muscle weakness" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0007020", + "label": "Progressive spastic paraplegia" + } + }, + { + "type": { + "id": "HP:0007002", + "label": "Motor axonal neuropathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609340", + "label": "Spastic paraplegia 28, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T19:01:11.620844Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_29_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_29_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..fd744a032 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_29_autosomal_dominant_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "spastic_paraplegia_29,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0000009", + "label": "Functional abnormality of the bladder" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0000009", + "label": "Functional abnormality of the bladder" + } + }, + { + "type": { + "id": "HP:0033479", + "label": "Abnormal circulating bilirubin concentration" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0006986", + "label": "Upper limb spasticity" + } + }, + { + "type": { + "id": "HP:0010831", + "label": "Impaired proprioception" + } + }, + { + "type": { + "id": "HP:0000009", + "label": "Functional abnormality of the bladder" + } + }, + { + "type": { + "id": "HP:0002493", + "label": "Upper motor neuron dysfunction" + } + }, + { + "type": { + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" + } + }, + { + "type": { + "id": "HP:0100790", + "label": "Hernia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609727", + "label": "Spastic paraplegia 29, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T20:49:45.145617Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0002503", + "label": "Spinocerebellar tract degeneration" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0001258", + "label": "Spastic paraplegia" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0002314", + "label": "Degeneration of the lateral corticospinal tracts" + } + }, + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0012443", + "label": "Abnormal brain morphology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0008948", + "label": "Proximal upper limb amyotrophy" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0007979", + "label": "Gaze-evoked horizontal nystagmus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:312920", + "label": "Spastic paraplegia 2, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T21:49:22.899679Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_30_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_30_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..8eb1081ae --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_30_autosomal_recessive_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "spastic_paraplegia_30,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002839", + "label": "Urinary bladder sphincter dysfunction" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0002061", + "label": "Lower limb spasticity" + } + }, + { + "type": { + "id": "HP:0001272", + "label": "Cerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0010551", + "label": "Paraplegia/paraparesis" + } + }, + { + "type": { + "id": "HP:0002169", + "label": "Clonus" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0007083", + "label": "Hyperactive patellar reflex" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610357", + "label": "Spastic paraplegia 30, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T23:31:02.652771Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_31_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_31_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..dfaf69918 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_31_autosomal_dominant_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "spastic_paraplegia_31,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001258", + "label": "Spastic paraplegia" + } + }, + { + "type": { + "id": "HP:0002064", + "label": "Spastic gait" + } + }, + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0011448", + "label": "Ankle clonus" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0007034", + "label": "Generalized hyperreflexia" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610250", + "label": "Spastic paraplegia 31, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:24.948208Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_32_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_32_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..4b25d4bf6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_32_autosomal_recessive_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "spastic_paraplegia_32,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002059", + "label": "Cerebral atrophy" + } + }, + { + "type": { + "id": "HP:0002064", + "label": "Spastic gait" + } + }, + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0002079", + "label": "Hypoplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0011448", + "label": "Ankle clonus" + } + }, + { + "type": { + "id": "HP:0007199", + "label": "Progressive spastic paraparesis" + } + }, + { + "type": { + "id": "HP:0006855", + "label": "Cerebellar vermis atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611252", + "label": "Spastic paraplegia 32, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T18:27:29.125705Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_33_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_33_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..365d8d4df --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_33_autosomal_dominant_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "spastic_paraplegia_33,_autosomal_dominant", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P56Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011448", + "label": "Ankle clonus" + } + }, + { + "type": { + "id": "HP:0003690", + "label": "Limb muscle weakness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610244", + "label": "Spastic paraplegia 33, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:37.416592Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_34_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_34_X_linked_patient_1.json new file mode 100644 index 000000000..da8d1133e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_34_X_linked_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spastic_paraplegia_34,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0007020", + "label": "Progressive spastic paraplegia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300750", + "label": "Spastic paraplegia 34, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T18:15:03.863318Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_35_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_35_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..e5038fcff --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_35_autosomal_recessive_patient_1.json @@ -0,0 +1,170 @@ +{ + "id": "spastic_paraplegia_35,_autosomal_recessive", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P6Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011442", + "label": "Abnormal central motor function" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0007859", + "label": "Congenital horizontal nystagmus" + } + }, + { + "type": { + "id": "HP:0002528", + "label": "Granulovacuolar degeneration" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0012443", + "label": "Abnormal brain morphology" + } + }, + { + "type": { + "id": "HP:0004302", + "label": "Functional motor deficit" + } + }, + { + "type": { + "id": "HP:0002493", + "label": "Upper motor neuron dysfunction" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0001304", + "label": "Torsion dystonia" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0000549", + "label": "Abnormal conjugate eye movement" + } + }, + { + "type": { + "id": "HP:0020036", + "label": "Upper limb dysmetria" + } + }, + { + "type": { + "id": "HP:0002075", + "label": "Dysdiadochokinesis" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0006849", + "label": "Hypodysplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0008278", + "label": "Cerebellar cortical atrophy" + } + }, + { + "type": { + "id": "HP:0000012", + "label": "Urinary urgency" + } + }, + { + "type": { + "id": "HP:0007366", + "label": "Atrophy/Degeneration affecting the brainstem" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612319", + "label": "Spastic paraplegia 35, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T22:00:10.491631Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_36_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_36_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..788ed9ec7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_36_autosomal_dominant_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "spastic_paraplegia_36,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000012", + "label": "Urinary urgency" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613096", + "label": "Spastic paraplegia 36, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T18:19:18.356835Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_37_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_37_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..aa2951cd7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_37_autosomal_dominant_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spastic_paraplegia_37,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0002395", + "label": "Lower limb hyperreflexia" + } + }, + { + "type": { + "id": "HP:0003808", + "label": "Abnormal muscle tone" + } + }, + { + "type": { + "id": "HP:0000012", + "label": "Urinary urgency" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611945", + "label": "Spastic paraplegia 37, autosomal dominant" + } + } + ], + "metaData": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_38_autosomal_dominant_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "spastic_paraplegia_38,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010549", + "label": "Weakness due to upper motor neuron dysfunction" + } + }, + { + "type": { + "id": "HP:0011727", + "label": "Peroneal muscle weakness" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612335", + "label": "Spastic paraplegia 38, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:59.699474Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_39_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_39_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..384ecd012 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_39_autosomal_recessive_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spastic_paraplegia_39,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001272", + "label": "Cerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0008955", + "label": "Progressive distal muscular atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612020", + "label": "Spastic paraplegia 39, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T23:27:20.737136Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_3_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_3_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..ff2d3e518 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_3_autosomal_dominant_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spastic_paraplegia_3,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031058", + "label": "Impairment of activities of daily living" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0006938", + "label": "Impaired vibration sensation at ankles" + } + }, + { + "type": { + "id": "HP:0012407", + "label": "Scissor gait" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:182600", + "label": "Spastic paraplegia 3, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T19:26:55.237217Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_41_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_41_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..1a42861e9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_41_autosomal_dominant_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spastic_paraplegia_41,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001258", + "label": "Spastic paraplegia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613364", + "label": "Spastic paraplegia 41, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T22:12:12.651892Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_42_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_42_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..f29ffc6ea --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_42_autosomal_dominant_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "spastic_paraplegia_42,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031957", + "label": "Spastic hemiparetic gait" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0012036", + "label": "Sternocleidomastoid amyotrophy" + } + }, + { + "type": { + "id": "HP:0007083", + "label": "Hyperactive patellar reflex" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612539", + "label": "Spastic paraplegia 42, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T19:44:13.647041Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_43_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_43_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..9e5303912 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_43_autosomal_recessive_patient_1.json @@ -0,0 +1,116 @@ +{ + "id": "spastic_paraplegia_43,_autosomal_recessive", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P34Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + }, + { + "type": { + "id": "HP:0002505", + "label": "Loss of ambulation" + }, + "onset": { + "ontologyClass": { + "id": "HP:0025710", + "label": "Late young adult onset" + } + } + }, + { + "type": { + "id": "HP:0009830", + "label": "Peripheral neuropathy" + } + }, + { + "type": { + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_63_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_63_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..0db3a5226 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_63_autosomal_recessive_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "spastic_paraplegia_63,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002518", + "label": "Abnormal periventricular white matter morphology" + } + }, + { + "type": { + "id": "HP:0012407", + "label": "Scissor gait" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0030051", + "label": "Tip-toe gait" + } + }, + { + "type": { + "id": "HP:0006849", + "label": "Hypodysplasia of the corpus callosum" + } + }, + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_64_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..24213531f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_64_autosomal_recessive_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spastic_paraplegia_64,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001258", + "label": "Spastic paraplegia" + } + }, + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615683", + "label": "Spastic paraplegia 64, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T20:32:38.856342Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_72B_autosomal_recessive_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "spastic_paraplegia_72b,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007256", + "label": "Abnormal pyramidal sign" + } + }, + { + "type": { + "id": "HP:0007083", + "label": "Hyperactive patellar reflex" + } + }, + { + "type": { + "id": "HP:0031957", + "label": "Spastic hemiparetic gait" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620606", + "label": "Spastic paraplegia 72B, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T20:48:24.931309Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": 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newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_75_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_75_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..51f1ac0b9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_75_autosomal_recessive_patient_1.json @@ -0,0 +1,176 @@ +{ + "id": "spastic_paraplegia_75,_autosomal_recessive", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P40Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0002522", + "label": "Areflexia of lower limbs" + } + }, + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0006886", + "label": "Impaired distal vibration sensation" + } + }, + { + "type": { 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"hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_83_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_83_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..9b1d163a4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_83_autosomal_recessive_patient_1.json @@ -0,0 +1,74 @@ +{ + "id": "spastic_paraplegia_83,_autosomal_recessive", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P13Y" + } + } + 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+ }, + { + "type": { + "id": "HP:0002355", + "label": "Difficulty walking" + } + }, + { + "type": { + "id": "HP:0031993", + "label": "Hoffmann sign" + } + }, + { + "type": { + "id": "HP:0001258", + "label": "Spastic paraplegia" + } + }, + { + "type": { + "id": "HP:0030051", + "label": "Tip-toe gait" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0100280", + "label": "Crohn's disease" + } + }, + { + "type": { + "id": "HP:0010873", + "label": "Cervical spinal cord atrophy" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0003273", + "label": "Hip contracture" + } + }, + { + "type": { + "id": "HP:0011448", + "label": "Ankle clonus" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619621", + "label": "Spastic paraplegia 84, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T19:00:39.252259Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_85_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_85_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..ddbbb9417 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_85_autosomal_recessive_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "spastic_paraplegia_85,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001152", + "label": "Saccadic smooth pursuit" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0002495", + "label": "Impaired vibratory sensation" + } + }, + { + "type": { + "id": "HP:0008376", + "label": "Nasal dysarthria" + } + }, + { + "type": { + "id": "HP:0007958", + "label": "Optic atrophy from cranial nerve compression" + } + }, + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0006986", + "label": "Upper limb spasticity" + } + }, + { + "type": { + "id": "HP:0003690", + "label": "Limb muscle weakness" + } + }, + { + "type": { + "id": "HP:0002493", + "label": "Upper motor neuron dysfunction" + } + }, + { + "type": { + "id": "HP:0007002", + "label": "Motor axonal neuropathy" + } + }, + { + "type": { + "id": "HP:0002544", + "label": "Retrocollis" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0007020", + "label": "Progressive spastic paraplegia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619686", + "label": "Spastic paraplegia 85, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T20:07:49.069752Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_86_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_86_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..6a092717f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_86_autosomal_recessive_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spastic_paraplegia_86,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0007098", + "label": "Paroxysmal choreoathetosis" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619735", + "label": "Spastic paraplegia 86, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T20:22:51.665051Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_87_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_87_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..27719d485 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_87_autosomal_recessive_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "spastic_paraplegia_87,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0031957", + "label": "Spastic hemiparetic gait" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619966", + "label": "Spastic paraplegia 87, 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_88_autosomal_dominant_patient_1.json @@ -0,0 +1,116 @@ +{ + "id": "spastic_paraplegia_88,_autosomal_dominant", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P4Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002936", + "label": "Distal sensory impairment" + } + }, + { + "type": { + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" + } + }, + { + "type": { + "id": "HP:0003552", + "label": "Muscle stiffness" + } + }, + { + "type": { + "id": "HP:0011448", + "label": "Ankle clonus" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0007199", + "label": "Progressive spastic 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"OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_89_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_89_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..ee442626f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_89_autosomal_recessive_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "spastic_paraplegia_89,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0002395", + "label": "Lower limb hyperreflexia" + } + }, + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0007020", + "label": "Progressive spastic paraplegia" + } + }, + { + "type": { + "id": "HP:0007371", + "label": "Corpus callosum atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620379", + "label": "Spastic paraplegia 89, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T21:38:54.586086Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_8_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_8_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..4e46a7d50 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_8_autosomal_dominant_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "spastic_paraplegia_8,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002395", + "label": "Lower limb hyperreflexia" + } + }, + { + "type": { + "id": "HP:0007340", + "label": "Lower limb muscle weakness" + } + }, + { + "type": { + "id": "HP:0002061", + "label": "Lower limb spasticity" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0001276", + "label": "Hypertonia" + } + }, + { + "type": { + "id": "HP:0002495", + "label": "Impaired vibratory sensation" + } + }, + { + "type": { + "id": "HP:0000012", + "label": "Urinary urgency" + } + }, + { + "type": { + "id": "HP:0000009", + "label": "Functional abnormality of the bladder" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603563", + "label": "Spastic paraplegia 8, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T21:37:05.759730Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_90A_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_90A_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..2e8f63f06 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_90A_autosomal_dominant_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spastic_paraplegia_90a,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031936", + "label": "Delayed ability to walk" + } + }, + { + "type": { + "id": "HP:0032005", + "label": "Hemidystonia" + } + }, + { + "type": { + "id": "HP:0007616", + "label": "Nevus flammeus nuchae" + } + }, + { + "type": { + "id": "HP:0002510", + "label": "Spastic tetraplegia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620416", + "label": "Spastic paraplegia 90A, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T19:58:51.791664Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_90B_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_90B_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..fe94336c7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_90B_autosomal_recessive_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "spastic_paraplegia_90b,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0034392", + "label": "Joint contracture" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0034353", + "label": "Appendicular spasticity" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0012719", + "label": "Functional abnormality of the gastrointestinal tract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620417", + "label": "Spastic paraplegia 90B, autosomal recessive" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_91_autosomal_dominant_with_or_without_cerebellar_ataxia_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "spastic_paraplegia_91,_autosomal_dominant,_with_or_without_cerebellar_ataxia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0001336", + "label": "Myoclonus" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0003484", + "label": "Upper limb muscle weakness" + } + }, + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" + } + }, + { + "type": { + "id": "HP:0007166", + "label": "Paroxysmal dyskinesia" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0010521", + "label": "Gait apraxia" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620538", + "label": "Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:34:44.923713Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_9A_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_9A_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..749216546 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_9A_autosomal_dominant_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "spastic_paraplegia_9a,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002395", + "label": "Lower limb hyperreflexia" + } + }, + { + "type": { + "id": "HP:0031993", + "label": "Hoffmann sign" + } + }, + { + "type": { + "id": "HP:0002066", + "label": "Gait ataxia" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0000020", + "label": "Urinary incontinence" + } + }, + { + "type": { + "id": "HP:0002495", + "label": "Impaired vibratory sensation" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0000009", + "label": "Functional abnormality of the bladder" + } + }, + { + "type": { + "id": "HP:0004258", + "label": "Small trapezoid bone" + } + }, + { + "type": { + "id": "HP:0002601", + "label": "Paresis of extensor muscles of the big toe" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0007220", + "label": "Demyelinating motor neuropathy" + } + }, + { + "type": { + "id": "HP:0025711", + "label": "Convergence-retraction nystagmus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601162", + "label": "Spastic paraplegia 9A, autosomal dominant" + } + } + ], + "metaData": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_9B_autosomal_recessive_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "spastic_paraplegia_9b,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0000016", + "label": "Urinary retention" + } + }, + { + "type": { + "id": "HP:0006886", + "label": "Impaired distal vibration sensation" + } + }, + { + "type": { + "id": "HP:0002445", + "label": "Tetraplegia" + } + }, + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0009027", + "label": "Foot dorsiflexor weakness" + } + }, + { + "type": { + "id": "HP:0001258", + "label": "Spastic paraplegia" + } + }, + { + "type": { + "id": "HP:0002464", + "label": "Spastic dysarthria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616586", + "label": "Spastic paraplegia 9B, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T22:34:32.059293Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_and_Evans_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_and_Evans_syndrome_patient_1.json new file mode 100644 index 000000000..f5cb333cf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_and_Evans_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spastic_paraplegia_and_evans_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001973", + "label": "Autoimmune thrombocytopenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601608", + "label": "Spastic paraplegia and Evans syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:22:30.304099Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_and_psychomotor_retardation_with_or_without_seizures_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_and_psychomotor_retardation_with_or_without_seizures_patient_1.json new file mode 100644 index 000000000..ac08153fc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_and_psychomotor_retardation_with_or_without_seizures_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "spastic_paraplegia_and_psychomotor_retardation_with_or_without_seizures", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002061", + "label": "Lower limb spasticity" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0033044", + "label": "Motor regression" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0032893", + "label": "Gastroenteritis-related afebrile seizure" + } + }, + { + "type": { + "id": "HP:0025501", + "label": "Class III obesity" + } + }, + { + "type": { + "id": "HP:0025068", + "label": "Incomitant strabismus" + } + }, + { + "type": { + "id": "HP:0002515", + "label": "Waddling gait" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616756", + "label": "Spastic paraplegia and psychomotor retardation with or without seizures" + } + } + ], + "metaData": { + "created": "2024-06-11T21:26:18.643323Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_ataxia_and_mental_retardation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_ataxia_and_mental_retardation_patient_1.json new file mode 100644 index 000000000..053247234 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_ataxia_and_mental_retardation_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "spastic_paraplegia,_ataxia,_and_mental_retardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002166", + "label": "Impaired vibration sensation in the lower limbs" + } + }, + { + "type": { + "id": "HP:0000496", + "label": "Abnormality of eye movement" + } + }, + { + "type": { + "id": "HP:0002839", + "label": "Urinary bladder sphincter dysfunction" + } + }, + { + "type": { + "id": "HP:0034674", + "label": "Abnormal ankle physiology" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0002464", + "label": "Spastic dysarthria" + } + }, + { + "type": { + "id": "HP:0011449", + "label": "Knee clonus" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0000009", + "label": "Functional abnormality of the bladder" + } + }, + { + "type": { + "id": "HP:0010992", + "label": "Stress urinary incontinence" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0002493", + "label": "Upper motor neuron dysfunction" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607565", + "label": "Spastic paraplegia, ataxia, and mental retardation" + } + } + ], + "metaData": { + "created": "2024-06-11T23:23:17.465739Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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"Nystagmus" + } + }, + { + "type": { + "id": "HP:0002188", + "label": "Delayed CNS myelination" + } + }, + { + "type": { + "id": "HP:0001513", + "label": "Obesity" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0000540", + "label": "Hypermetropia" + } + }, + { + "type": { + "id": "HP:0025335", + "label": "Delayed ability to stand" + } + }, + { + "type": { + "id": "HP:0000248", + "label": "Brachycephaly" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0008936", + "label": "Axial hypotonia" + } + }, + { + "type": { + "id": "HP:0000483", + "label": "Astigmatism" + } + }, + { + "type": { + "id": "HP:0000322", + "label": "Short philtrum" + } + }, + { + "type": { + "id": "HP:0001093", + "label": "Optic nerve dysplasia" + } + }, + { + "type": { + "id": "HP:0006956", + "label": "Lateral ventricle dilatation" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + }, + { + "type": { + "id": "HP:0001258", + "label": "Spastic paraplegia" + } + }, + { + "type": { + "id": "HP:0007082", + "label": "Dilated third ventricle" + } + }, + { + "type": { + "id": "HP:0012105", + "label": "Occipital cortical atrophy" + } + }, + { + "type": { + "id": "HP:0006889", + "label": "Intellectual disability, borderline" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617296", + "label": "Spastic paraplegia, intellectual disability, nystagmus, and obesity" + } + } + ], + "metaData": { + "created": "2024-06-11T20:28:22.350512Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_optic_atrophy_and_dementia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_optic_atrophy_and_dementia_patient_1.json new file mode 100644 index 000000000..fde3d6988 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_optic_atrophy_and_dementia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spastic_paraplegia,_optic_atrophy,_and_dementia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000543", + "label": "Optic disc pallor" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:182830", + "label": "Spastic paraplegia, optic atrophy, and dementia" + } + } + ], 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_optic_atrophy_and_neuropathy_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "spastic_paraplegia,_optic_atrophy,_and_neuropathy", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P27Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0003438", + "label": "Absent Achilles reflex" + } + }, + { + "type": { + "id": "HP:0002808", + "label": "Kyphosis" + } + }, + { + "type": { + "id": "HP:0011442", + "label": "Abnormal central motor function" + } + }, + { + "type": { + "id": "HP:0002267", + "label": "Exaggerated startle response" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609541", + "label": "Spastic paraplegia, optic atrophy, and neuropathy" + } + } + ], + "metaData": { + "created": "2024-06-11T18:25:21.573587Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_sensorineural_deafness_mental_retardation_and_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_sensorineural_deafness_mental_retardation_and_patient_1.json new file mode 100644 index 000000000..76969ba3f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_sensorineural_deafness_mental_retardation_and_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spastic_paraplegia,_sensorineural_deafness,_mental_retardation,_and", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0008619", + "label": "Bilateral sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:182690", + "label": "Spastic paraplegia, sensorineural deafness, mental retardation, and" + } + } + ], + "metaData": { + "created": "2024-06-12T00:30:31.245819Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_with_associated_extrapyramidal_signs_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_with_associated_extrapyramidal_signs_patient_1.json new file mode 100644 index 000000000..5636e3af3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_with_associated_extrapyramidal_signs_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spastic_paraplegia_with_associated_extrapyramidal_signs", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001258", + "label": "Spastic paraplegia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:182800", + "label": "Spastic paraplegia with associated extrapyramidal signs" + } + } + ], + "metaData": { + "created": "2024-06-11T21:56:21.343057Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_with_neuropathy_and_poikiloderma_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_with_neuropathy_and_poikiloderma_patient_1.json new file mode 100644 index 000000000..1abe66176 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paraplegia_with_neuropathy_and_poikiloderma_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spastic_paraplegia_with_neuropathy_and_poikiloderma", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001258", + "label": "Spastic paraplegia" + } + }, + { + "type": { + "id": "HP:0009830", + "label": "Peripheral neuropathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:182815", + "label": "Spastic paraplegia with neuropathy and poikiloderma" + } + } + ], + "metaData": { + "created": "2024-06-11T22:09:23.233717Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paresis_glaucoma_and_mental_retardation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paresis_glaucoma_and_mental_retardation_patient_1.json new file mode 100644 index 000000000..e575dca56 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_paresis_glaucoma_and_mental_retardation_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spastic_paresis,_glaucoma,_and_mental_retardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000501", + "label": "Glaucoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:270850", + "label": "Spastic paresis, glaucoma, and mental retardation" + } + } + ], + "metaData": { + "created": "2024-06-11T19:20:33.979400Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_quadriplegia_retinitis_pigmentosa_and_mental_retardation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_quadriplegia_retinitis_pigmentosa_and_mental_retardation_patient_1.json new file mode 100644 index 000000000..8de0c604c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_quadriplegia_retinitis_pigmentosa_and_mental_retardation_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spastic_quadriplegia,_retinitis_pigmentosa,_and_mental_retardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002510", + "label": "Spastic tetraplegia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:270950", + "label": "Spastic quadriplegia, retinitis pigmentosa, and mental retardation" + } + } + ], + "metaData": { + "created": "2024-06-11T20:27:52.482511Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_tetraplegia_and_axial_hypotonia_progressive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_tetraplegia_and_axial_hypotonia_progressive_patient_1.json new file mode 100644 index 000000000..911f7f2ff --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_tetraplegia_and_axial_hypotonia_progressive_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "spastic_tetraplegia_and_axial_hypotonia,_progressive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008936", + "label": "Axial hypotonia" + } + }, + { + "type": { + "id": "HP:0001285", + "label": "Spastic tetraparesis" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0002151", + "label": "Increased circulating lactate concentration" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0011448", + "label": "Ankle clonus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618598", + "label": "Spastic tetraplegia and axial hypotonia, progressive" + } + } + ], + "metaData": { + "created": "2024-06-11T20:07:49.103378Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_tetraplegia_thin_corpus_callosum_and_progressive_microcephaly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_tetraplegia_thin_corpus_callosum_and_progressive_microcephaly_patient_1.json new file mode 100644 index 000000000..fdec45e53 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spastic_tetraplegia_thin_corpus_callosum_and_progressive_microcephaly_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "spastic_tetraplegia,_thin_corpus_callosum,_and_progressive_microcephaly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + }, + { + "type": { + "id": "HP:0006466", + "label": "Ankle flexion contracture" + } + }, + { + "type": { + "id": "HP:0034434", + "label": "Abnormal communication" + } + }, + { + "type": { + "id": "HP:0002464", + "label": "Spastic dysarthria" + } + }, + { + "type": { + "id": "HP:0007369", + "label": "Atrophy/Degeneration affecting the cerebrum" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0002188", + "label": "Delayed CNS myelination" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0002510", + "label": "Spastic tetraplegia" + } + }, + { + "type": { + "id": "HP:0006849", + "label": "Hypodysplasia of the corpus callosum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616657", + "label": "Spastic tetraplegia, thin corpus callosum, and progressive microcephaly" + } + } + ], + "metaData": { + "created": "2024-06-11T23:15:11.564472Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spasticity_childhood_onset_with_hyperglycinemia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spasticity_childhood_onset_with_hyperglycinemia_patient_1.json new file mode 100644 index 000000000..8ebeb53a2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spasticity_childhood_onset_with_hyperglycinemia_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "spasticity,_childhood-onset,_with_hyperglycinemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0500230", + "label": "Increased CSF glycine concentration" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0002154", + "label": "Hyperglycinemia" + } + }, + { + "type": { + "id": "HP:0007364", + "label": "Aplasia/Hypoplasia of the cerebrum" + } + }, + { + "type": { + "id": "HP:0006978", + "label": "Dysmyelinating leukodystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616859", + "label": "Spasticity, childhood-onset, with hyperglycinemia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:18:48.512865Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spatial_visualization_aptitude_for_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spatial_visualization_aptitude_for_patient_1.json new file mode 100644 index 000000000..35364e8aa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spatial_visualization_aptitude_for_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spatial_visualization,_aptitude_for", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000707", + "label": "Abnormality of the nervous system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:313000", + "label": "Spatial visualization, aptitude for" + } + } + ], + "metaData": { + "created": "2024-06-11T20:03:39.087776Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Specific_granule_deficiency_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Specific_granule_deficiency_2_patient_1.json new file mode 100644 index 000000000..ee55ce2d1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Specific_granule_deficiency_2_patient_1.json @@ -0,0 +1,159 @@ +{ + "id": "specific_granule_deficiency_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001007", + "label": "Hirsutism" + } + }, + { + "type": { + "id": "HP:0033606", + "label": "Bone marrow maturation arrest" + } + }, + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + } + }, + { + "type": { + "id": "HP:0000403", + "label": "Recurrent otitis media" + } + }, + { + "type": { + "id": "HP:0032434", + "label": "Delayed umbilical cord separation" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0032435", + "label": "Neonatal omphalitis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0001875", + "label": "Neutropenia" + } + }, + { + "type": { + "id": "HP:0002718", + "label": "Recurrent bacterial infections" + } + }, + { + "type": { + "id": "HP:0006532", + "label": "Recurrent pneumonia" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000974", + "label": "Hyperextensible skin" + } + }, + { + "type": { + "id": "HP:0000698", + "label": "Conical tooth" + } + }, + { + "type": { + "id": "HP:0001852", + "label": "Sandal gap" + } + }, + { + "type": { + "id": "HP:0002041", + "label": "Intractable diarrhea" + } + }, + { + "type": { + "id": "HP:0011992", + "label": "Abnormal neutrophil morphology" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0000682", + "label": "Abnormal dental enamel morphology" + } + }, + { + "type": { + "id": "HP:0001531", + "label": "Failure to thrive in infancy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617475", + "label": "Specific granule deficiency 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:03:03.998917Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Specific_granule_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Specific_granule_deficiency_patient_1.json new file mode 100644 index 000000000..b2dc7702c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Specific_granule_deficiency_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "specific_granule_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011447", + "label": "Hyposegmentation of neutrophil nuclei" + } + }, + { + "type": { + "id": "HP:0000403", + "label": "Recurrent otitis media" + } + }, + { + "type": { + "id": "HP:0040238", + "label": "Impaired neutrophil chemotaxis" + } + }, + { + "type": { + "id": "HP:0041046", + "label": "Increased neutrophil ribosomes" + } + }, + { + "type": { + "id": "HP:0006532", + "label": "Recurrent pneumonia" + } + }, + { + "type": { + "id": "HP:0012551", + "label": "Absent neutrophil specific granules" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:245480", + "label": "Specific granule deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T19:41:41.385009Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Specific_language_impairment_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Specific_language_impairment_1_patient_1.json new file mode 100644 index 000000000..ce93e18bc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Specific_language_impairment_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "specific_language_impairment_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606711", + "label": "Specific language impairment 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:05:32.505061Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Specific_language_impairment_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Specific_language_impairment_2_patient_1.json new file mode 100644 index 000000000..54343c7f6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Specific_language_impairment_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "specific_language_impairment_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002474", + "label": "Expressive language delay" + } + }, + { + "type": { + "id": "HP:0002549", + "label": "Deficit in phonologic short-term memory" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606712", + "label": "Specific language impairment 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:28:05.496682Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Specific_language_impairment_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Specific_language_impairment_5_patient_1.json new file mode 100644 index 000000000..23029251e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Specific_language_impairment_5_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "specific_language_impairment_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615432", + "label": "Specific language impairment 5" + } + } + ], + "metaData": { + "created": "2024-06-11T17:53:33.052276Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Speech_development_delayed_with_facial_asymmetry_strabismus_andtransverse_earlobe_crease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Speech_development_delayed_with_facial_asymmetry_strabismus_andtransverse_earlobe_crease_patient_1.json new file mode 100644 index 000000000..11a9dd119 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Speech_development_delayed_with_facial_asymmetry_strabismus_andtransverse_earlobe_crease_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "speech_development,_delayed,_with_facial_asymmetry,_strabismus,_andtransverse_earlobe_crease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:182875", + "label": "Speech development, delayed, with facial asymmetry, strabismus, andtransverse earlobe crease" + } + } + ], + "metaData": { + "created": "2024-06-12T02:17:46.150342Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Speech_language_disorder_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Speech_language_disorder_1_patient_1.json new file mode 100644 index 000000000..98277f9ef --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Speech_language_disorder_1_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "speech-language_disorder-1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007301", + "label": "Oromotor apraxia" + } + }, + { + "type": { + "id": "HP:0006977", + "label": "Deficit in grammar" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602081", + "label": "Speech-language disorder-1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:52:57.255448Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_10_patient_1.json new file mode 100644 index 000000000..d4682b63b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_10_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0012864", + "label": "Abnormal sperm morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614822", + "label": "Spermatogenic failure 10" + } + } + ], + "metaData": { + "created": "2024-06-11T20:09:52.705205Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_11_patient_1.json new file mode 100644 index 000000000..01207795c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_11_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012041", + "label": "Decreased fertility in males" + } + }, + { + "type": { + "id": "HP:0008669", + "label": "Abnormal spermatogenesis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615081", + "label": "Spermatogenic failure 11" + } + } + ], + "metaData": { + "created": "2024-06-11T19:52:31.248979Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_12_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_12_patient_1.json new file mode 100644 index 000000000..afffeba30 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_12_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_12", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000789", + "label": "Infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615413", + "label": "Spermatogenic failure 12" + } + } + ], + "metaData": { + "created": "2024-06-11T22:51:37.324779Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_13_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_13_patient_1.json new file mode 100644 index 000000000..3d6884278 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_13_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_13", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0008232", + "label": "Elevated circulating follicle stimulating hormone level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615841", + "label": "Spermatogenic failure 13" + } + } + ], + "metaData": { + "created": "2024-06-11T21:10:41.596085Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_14_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_14_patient_1.json new file mode 100644 index 000000000..6bcc24885 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_14_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_14", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0012874", + "label": "Abnormal male reproductive system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615842", + "label": "Spermatogenic failure 14" + } + } + ], + "metaData": { + "created": "2024-06-11T21:34:58.104713Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_15_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_15_patient_1.json new file mode 100644 index 000000000..f96119164 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_15_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_15", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008669", + "label": "Abnormal spermatogenesis" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616950", + "label": "Spermatogenic failure 15" + } + } + ], + "metaData": { + "created": "2024-06-11T19:43:01.702204Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_16_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_16_patient_1.json new file mode 100644 index 000000000..8c5dd229f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_16_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_16", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012207", + "label": "Reduced sperm motility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617187", + "label": "Spermatogenic failure 16" + } + } + ], + "metaData": { + "created": "2024-06-11T18:13:01.172549Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_17_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_17_patient_1.json new file mode 100644 index 000000000..d5f19b886 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_17_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_17", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617214", + "label": "Spermatogenic failure 17" + } + } + ], + "metaData": { + "created": "2024-06-12T01:59:11.331769Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_18_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_18_patient_1.json new file mode 100644 index 000000000..c7c1c760f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_18_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_18", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0012874", + "label": "Abnormal male reproductive system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617576", + "label": "Spermatogenic failure 18" + } + } + ], + "metaData": { + "created": "2024-06-11T22:52:01.574602Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_19_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_19_patient_1.json new file mode 100644 index 000000000..b606fc8cd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_19_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "spermatogenic_failure_19", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032559", + "label": "Short sperm flagella" + } + }, + { + "type": { + "id": "HP:0032560", + "label": "Coiled sperm flagella" + } + }, + { + "type": { + "id": "HP:0032558", + "label": "Absent sperm flagella" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617592", + "label": "Spermatogenic failure 19" + } + } + ], + "metaData": { + "created": "2024-06-11T18:42:50.022326Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_1_patient_1.json new file mode 100644 index 000000000..e9e4e3d05 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_1_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "spermatogenic_failure_1", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P35Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000798", + "label": "Oligozoospermia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:258150", + "label": "Spermatogenic failure 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:52:33.487182Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_20_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_20_patient_1.json new file mode 100644 index 000000000..8450e22a3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_20_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_20", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032558", + "label": "Absent sperm flagella" + } + }, + { + "type": { + "id": "HP:0012863", + "label": "Abnormal male germ cell morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617593", + "label": "Spermatogenic failure 20" + } + } + ], + "metaData": { + "created": "2024-06-11T18:45:38.879961Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_21_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_21_patient_1.json new file mode 100644 index 000000000..a378451d2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_21_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_21", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012869", + "label": "Acephalic spermatozoa" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617644", + "label": "Spermatogenic failure 21" + } + } + ], + "metaData": { + "created": "2024-06-11T20:17:45.645159Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_22_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_22_patient_1.json new file mode 100644 index 000000000..ec2ac5200 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_22_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_22", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030974", + "label": "Cryptozoospermia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617706", + "label": "Spermatogenic failure 22" + } + } + ], + "metaData": { + "created": "2024-06-11T22:22:18.984769Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_23_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_23_patient_1.json new file mode 100644 index 000000000..629522d41 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_23_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_23", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000027", + "label": "Azoospermia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617707", + "label": "Spermatogenic failure 23" + } + } + ], + "metaData": { + "created": "2024-06-11T22:34:02.798900Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_24_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_24_patient_1.json new file mode 100644 index 000000000..677f5ef68 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_24_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "spermatogenic_failure_24", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000025", + "label": "Functional abnormality of male internal genitalia" + } + }, + { + "type": { + "id": "HP:0032560", + "label": "Coiled sperm flagella" + } + }, + { + "type": { + "id": "HP:0012864", + "label": "Abnormal sperm morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617959", + "label": "Spermatogenic failure 24" + } + } + ], + "metaData": { + "created": "2024-06-11T18:15:57.637751Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_25_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_25_patient_1.json new file mode 100644 index 000000000..f6f924981 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_25_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_25", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008734", + "label": "Decreased testicular size" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617960", + "label": "Spermatogenic failure 25" + } + } + ], + "metaData": { + "created": "2024-06-11T18:40:37.761975Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_26_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_26_patient_1.json new file mode 100644 index 000000000..35c270ab0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_26_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_26", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012869", + "label": "Acephalic spermatozoa" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617961", + "label": "Spermatogenic failure 26" + } + } + ], + "metaData": { + "created": "2024-06-11T18:46:52.667233Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_27_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_27_patient_1.json new file mode 100644 index 000000000..42c2b7a25 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_27_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spermatogenic_failure_27", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032560", + "label": "Coiled sperm flagella" + } + }, + { + "type": { + "id": "HP:0012868", + "label": "Abnormal sperm tail morphology" + } + }, + { + "type": { + "id": "HP:0012864", + "label": "Abnormal sperm morphology" + } + }, + { + "type": { + "id": "HP:0000144", + "label": "Decreased fertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617965", + "label": "Spermatogenic failure 27" + } + } + ], + "metaData": { + "created": "2024-06-11T18:15:24.038375Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_28_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_28_patient_1.json new file mode 100644 index 000000000..d2282c60a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_28_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spermatogenic_failure_28", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0008232", + "label": "Elevated circulating follicle stimulating hormone level" + } + }, + { + "type": { + "id": "HP:0040171", + "label": "Decreased serum testosterone concentration" + } + }, + { + "type": { + "id": "HP:0012243", + "label": "Abnormal reproductive system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618086", + "label": "Spermatogenic failure 28" + } + } + ], + "metaData": { + "created": "2024-06-11T23:31:41.382223Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_29_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_29_patient_1.json new file mode 100644 index 000000000..5406cc1e0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_29_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_29", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0011961", + "label": "Non-obstructive azoospermia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618091", + "label": "Spermatogenic failure 29" + } + } + ], + "metaData": { + "created": "2024-06-11T23:57:01.997170Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_2_patient_1.json new file mode 100644 index 000000000..3c72e31ef --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_2_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spermatogenic_failure_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000027", + "label": "Azoospermia" + } + }, + { + "type": { + "id": "HP:0011961", + "label": "Non-obstructive azoospermia" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0000798", + "label": "Oligozoospermia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:108420", + "label": "Spermatogenic failure 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:47:04.698673Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_30_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_30_patient_1.json new file mode 100644 index 000000000..37501b848 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_30_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "spermatogenic_failure_30", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0008669", + "label": "Abnormal spermatogenesis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618110", + "label": "Spermatogenic failure 30" + } + } + ], + "metaData": { + "created": "2024-06-11T18:41:36.950862Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_31_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_31_patient_1.json new file mode 100644 index 000000000..51ba9cd27 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_31_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_31", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012869", + "label": "Acephalic spermatozoa" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618112", + "label": "Spermatogenic failure 31" + } + } + ], + "metaData": { + "created": "2024-06-11T19:15:04.003158Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_32_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_32_patient_1.json new file mode 100644 index 000000000..1758964cf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_32_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_32", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011961", + "label": "Non-obstructive azoospermia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618115", + "label": "Spermatogenic failure 32" + } + } + ], + "metaData": { + "created": "2024-06-11T18:17:28.709517Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_33_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_33_patient_1.json new file mode 100644 index 000000000..ad543b615 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_33_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spermatogenic_failure_33", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012207", + "label": "Reduced sperm motility" + } + }, + { + "type": { + "id": "HP:0012862", + "label": "Abnormal germ cell morphology" + } + }, + { + "type": { + "id": "HP:0012862", + "label": "Abnormal germ cell morphology" + } + }, + { + "type": { + "id": "HP:0012864", + "label": "Abnormal sperm morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618152", + "label": "Spermatogenic failure 33" + } + } + ], + "metaData": { + "created": "2024-06-11T22:00:18.515833Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_34_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_34_patient_1.json new file mode 100644 index 000000000..bd03e5ad7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_34_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spermatogenic_failure_34", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000144", + "label": "Decreased fertility" + } + }, + { + "type": { + "id": "HP:0012862", + "label": "Abnormal germ cell morphology" + } + }, + { + "type": { + "id": "HP:0032558", + "label": "Absent sperm flagella" + } + }, + { + "type": { + "id": "HP:0012863", + "label": "Abnormal male germ cell morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618153", + "label": "Spermatogenic failure 34" + } + } + ], + "metaData": { + "created": "2024-06-11T22:05:27.474421Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_35_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_35_patient_1.json new file mode 100644 index 000000000..49f9c8c18 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_35_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_35", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032559", + "label": "Short sperm flagella" + } + }, + { + "type": { + "id": "HP:0000144", + "label": "Decreased fertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618341", + "label": "Spermatogenic failure 35" + } + } + ], + "metaData": { + "created": "2024-06-11T21:34:28.077215Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_36_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_36_patient_1.json new file mode 100644 index 000000000..8de54d0c7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_36_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_36", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012864", + "label": "Abnormal sperm morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618420", + "label": "Spermatogenic failure 36" + } + } + ], + "metaData": { + "created": "2024-06-11T22:33:51.340842Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_37_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_37_patient_1.json new file mode 100644 index 000000000..07a516c65 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_37_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "spermatogenic_failure_37", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033393", + "label": "Irregularly shaped sperm tail" + } + }, + { + "type": { + "id": "HP:0012863", + "label": "Abnormal male germ cell morphology" + } + }, + { + "type": { + "id": "HP:0012863", + "label": "Abnormal male germ cell morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618429", + "label": "Spermatogenic failure 37" + } + } + ], + "metaData": { + "created": "2024-06-11T20:55:39.234800Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_38_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_38_patient_1.json new file mode 100644 index 000000000..ffdb5abba --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_38_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_38", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012208", + "label": "Immotile sperm" + } + }, + { + "type": { + "id": "HP:0012253", + "label": "Abnormal respiratory epithelium morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618433", + "label": "Spermatogenic failure 38" + } + } + ], + "metaData": { + "created": "2024-06-11T21:34:41.380092Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_39_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_39_patient_1.json new file mode 100644 index 000000000..231f1f7cf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_39_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_39", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0032562", + "label": "Tapered sperm head" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618643", + "label": "Spermatogenic failure 39" + } + } + ], + "metaData": { + "created": "2024-06-11T23:38:59.677356Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_3_patient_1.json new file mode 100644 index 000000000..3f10fde8e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012207", + "label": "Reduced sperm motility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606766", + "label": "Spermatogenic failure 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:42:19.510173Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_40_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_40_patient_1.json new file mode 100644 index 000000000..685f3fe4f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_40_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_40", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000144", + "label": "Decreased fertility" + } + }, + { + "type": { + "id": "HP:0034809", + "label": "Abnormal sperm physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618664", + "label": "Spermatogenic failure 40" + } + } + ], + "metaData": { + "created": "2024-06-11T17:54:17.570348Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_41_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_41_patient_1.json new file mode 100644 index 000000000..b660a8afc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_41_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_41", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032559", + "label": "Short sperm flagella" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618670", + "label": "Spermatogenic failure 41" + } + } + ], + "metaData": { + "created": "2024-06-11T17:53:52.439882Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_42_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_42_patient_1.json new file mode 100644 index 000000000..28edf5d2e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_42_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spermatogenic_failure_42", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012243", + "label": "Abnormal reproductive system morphology" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0012865", + "label": "Abnormal sperm head morphology" + } + }, + { + "type": { + "id": "HP:0034809", + "label": "Abnormal sperm physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618745", + "label": "Spermatogenic failure 42" + } + } + ], + "metaData": { + "created": "2024-06-11T21:28:45.347548Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_43_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_43_patient_1.json new file mode 100644 index 000000000..b11567dd7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_43_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_43", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032558", + "label": "Absent sperm flagella" + } + }, + { + "type": { + "id": "HP:0012208", + "label": "Immotile sperm" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618751", + "label": "Spermatogenic failure 43" + } + } + ], + "metaData": { + "created": "2024-06-11T21:28:19.721975Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_44_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_44_patient_1.json new file mode 100644 index 000000000..8f71a2592 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_44_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_44", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012207", + "label": "Reduced sperm motility" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619044", + "label": "Spermatogenic failure 44" + } + } + ], + "metaData": { + "created": "2024-06-11T20:47:34.327710Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_45_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_45_patient_1.json new file mode 100644 index 000000000..6e0163f4f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_45_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_45", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032560", + "label": "Coiled sperm flagella" + } + }, + { + "type": { + "id": "HP:0032559", + "label": "Short sperm flagella" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619094", + "label": "Spermatogenic failure 45" + } + } + ], + "metaData": { + "created": "2024-06-11T20:03:57.739570Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_46_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_46_patient_1.json new file mode 100644 index 000000000..4cff6b717 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_46_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_46", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033393", + "label": "Irregularly shaped sperm tail" + } + }, + { + "type": { + "id": "HP:0032558", + "label": "Absent sperm flagella" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619095", + "label": "Spermatogenic failure 46" + } + } + ], + "metaData": { + "created": "2024-06-11T19:55:21.611104Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_47_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_47_patient_1.json new file mode 100644 index 000000000..bb7be6a24 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_47_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_47", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012208", + "label": "Immotile sperm" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619102", + "label": "Spermatogenic failure 47" + } + } + ], + "metaData": { + "created": "2024-06-11T21:47:17.095001Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_48_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_48_patient_1.json new file mode 100644 index 000000000..25eeedc4b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_48_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_48", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000798", + "label": "Oligozoospermia" + } + }, + { + "type": { + "id": "HP:0012874", + "label": "Abnormal male reproductive system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619108", + "label": "Spermatogenic failure 48" + } + } + ], + "metaData": { + "created": "2024-06-11T19:41:21.379906Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_49_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_49_patient_1.json new file mode 100644 index 000000000..ec11373e4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_49_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "spermatogenic_failure_49", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032558", + "label": "Absent sperm flagella" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0032560", + "label": "Coiled sperm flagella" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619144", + "label": "Spermatogenic failure 49" + } + } + ], + "metaData": { + "created": "2024-06-11T18:37:13.668777Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_4_patient_1.json new file mode 100644 index 000000000..fa433d02e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:270960", + "label": "Spermatogenic failure 4" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:09.378826Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_50_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_50_patient_1.json new file mode 100644 index 000000000..f1d14ce82 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_50_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "spermatogenic_failure_50", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P79Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008669", + "label": "Abnormal spermatogenesis" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619145", + "label": "Spermatogenic failure 50" + } + } + ], + "metaData": { + "created": "2024-06-11T18:52:31.299277Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_51_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_51_patient_1.json new file mode 100644 index 000000000..d61e868f8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_51_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "spermatogenic_failure_51", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032559", + "label": "Short sperm flagella" + } + }, + { + "type": { + "id": "HP:0025437", + "label": "Macrozoospermia" + } + }, + { + "type": { + "id": "HP:0032561", + "label": "Microcephalic sperm head" + } + }, + { + "type": { + "id": "HP:0032560", + "label": "Coiled sperm flagella" + } + }, + { + "type": { + "id": "HP:0012207", + "label": "Reduced sperm motility" + } + }, + { + "type": { + "id": "HP:0033393", + "label": "Irregularly shaped sperm tail" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619177", + "label": "Spermatogenic failure 51" + } + } + ], + "metaData": { + "created": "2024-06-11T22:44:31.351194Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_52_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_52_patient_1.json new file mode 100644 index 000000000..06febfcf8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_52_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_52", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000027", + "label": "Azoospermia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619202", + "label": "Spermatogenic failure 52" + } + } + ], + "metaData": { + "created": "2024-06-11T23:14:59.385294Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_53_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_53_patient_1.json new file mode 100644 index 000000000..1a1cc0666 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_53_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_53", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619258", + "label": "Spermatogenic failure 53" + } + } + ], + "metaData": { + "created": "2024-06-11T21:59:40.608386Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_54_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_54_patient_1.json new file mode 100644 index 000000000..72f4f8e39 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_54_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "spermatogenic_failure_54", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032562", + "label": "Tapered sperm head" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0033524", + "label": "Abnormal sperm axoneme morphology" + } + }, + { + "type": { + "id": "HP:0000798", + "label": "Oligozoospermia" + } + }, + { + "type": { + "id": "HP:0032560", + "label": "Coiled sperm flagella" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619379", + "label": "Spermatogenic failure 54" + } + } + ], + "metaData": { + "created": "2024-06-11T18:56:36.211341Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_55_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_55_patient_1.json new file mode 100644 index 000000000..af0a06ef9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_55_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_55", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012207", + "label": "Reduced sperm motility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619380", + "label": "Spermatogenic failure 55" + } + } + ], + "metaData": { + "created": "2024-06-11T18:10:37.612640Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_56_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_56_patient_1.json new file mode 100644 index 000000000..ce2fb9d48 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_56_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "spermatogenic_failure_56", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012874", + "label": "Abnormal male reproductive system physiology" + } + }, + { + "type": { + "id": "HP:0033393", + "label": "Irregularly shaped sperm tail" + } + }, + { + "type": { + "id": "HP:0012874", + "label": "Abnormal male reproductive system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619515", + "label": "Spermatogenic failure 56" + } + } + ], + "metaData": { + "created": "2024-06-11T22:26:14.712154Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_57_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_57_patient_1.json new file mode 100644 index 000000000..f800a274b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_57_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_57", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031038", + "label": "Spermatogenesis maturation arrest" + } + }, + { + "type": { + "id": "HP:0008734", + "label": "Decreased testicular size" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619528", + "label": "Spermatogenic failure 57" + } + } + ], + "metaData": { + "created": "2024-06-11T22:31:50.538820Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_58_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_58_patient_1.json new file mode 100644 index 000000000..6300c13da --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_58_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "spermatogenic_failure_58", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000798", + "label": "Oligozoospermia" + } + }, + { + "type": { + "id": "HP:0000144", + "label": "Decreased fertility" + } + }, + { + "type": { + "id": "HP:0033393", + "label": "Irregularly shaped sperm tail" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619585", + "label": "Spermatogenic failure 58" + } + } + ], + "metaData": { + "created": "2024-06-11T17:54:54.906530Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_59_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_59_patient_1.json new file mode 100644 index 000000000..f7170d8c1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_59_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_59", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619645", + "label": "Spermatogenic failure 59" + } + } + ], + "metaData": { + "created": "2024-06-11T20:09:13.379523Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_60_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_60_patient_1.json new file mode 100644 index 000000000..835563f12 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_60_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_60", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011961", + "label": "Non-obstructive azoospermia" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619646", + "label": "Spermatogenic failure 60" + } + } + ], + "metaData": { + "created": "2024-06-11T19:42:19.523503Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_61_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_61_patient_1.json new file mode 100644 index 000000000..dbd6bb633 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_61_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_61", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619672", + "label": "Spermatogenic failure 61" + } + } + ], + "metaData": { + "created": "2024-06-11T21:04:53.095393Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_62_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_62_patient_1.json new file mode 100644 index 000000000..af8010ceb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_62_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_62", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011961", + "label": "Non-obstructive azoospermia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619673", + "label": "Spermatogenic failure 62" + } + } + ], + "metaData": { + "created": "2024-06-11T21:22:18.134140Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_63_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_63_patient_1.json new file mode 100644 index 000000000..2146da762 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_63_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_63", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000144", + "label": "Decreased fertility" + } + }, + { + "type": { + "id": "HP:0034815", + "label": "Extreme oligozoospermia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619689", + "label": "Spermatogenic failure 63" + } + } + ], + "metaData": { + "created": "2024-06-11T22:35:04.204970Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_64_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_64_patient_1.json new file mode 100644 index 000000000..a5d1ff720 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_64_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_64", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012865", + "label": "Abnormal sperm head morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619696", + "label": "Spermatogenic failure 64" + } + } + ], + "metaData": { + "created": "2024-06-11T20:21:03.001505Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_65_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_65_patient_1.json new file mode 100644 index 000000000..3e4afdfa5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_65_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "spermatogenic_failure_65", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012874", + "label": "Abnormal male reproductive system physiology" + } + }, + { + "type": { + "id": "HP:0012041", + "label": "Decreased fertility in males" + } + }, + { + "type": { + "id": "HP:0012874", + "label": "Abnormal male reproductive system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619712", + "label": "Spermatogenic failure 65" + } + } + ], + "metaData": { + "created": "2024-06-11T21:08:09.856909Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_66_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_66_patient_1.json new file mode 100644 index 000000000..720fdfff3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_66_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_66", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619799", + "label": "Spermatogenic failure 66" + } + } + ], + "metaData": { + "created": "2024-06-11T23:14:22.698289Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_67_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_67_patient_1.json new file mode 100644 index 000000000..098e3b8d8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_67_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_67", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619803", + "label": "Spermatogenic failure 67" + } + } + ], + "metaData": { + "created": "2024-06-11T17:48:41.361860Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_68_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_68_patient_1.json new file mode 100644 index 000000000..074689d55 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_68_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_68", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012205", + "label": "Globozoospermia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619805", + "label": "Spermatogenic failure 68" + } + } + ], + "metaData": { + "created": "2024-06-11T18:37:33.724556Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_69_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_69_patient_1.json new file mode 100644 index 000000000..a44442fb7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_69_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_69", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619826", + "label": "Spermatogenic failure 69" + } + } + ], + "metaData": { + "created": "2024-06-12T02:18:07.825573Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_6_patient_1.json new file mode 100644 index 000000000..68b2e4373 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_6_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031136", + "label": "Decreased acrosin in sperm head" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:102530", + "label": "Spermatogenic failure 6" + } + } + ], + "metaData": { + "created": "2024-06-11T23:28:33.208112Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_70_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_70_patient_1.json new file mode 100644 index 000000000..37cb15a0a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_70_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_70", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0011963", + "label": "Pretesticular azoospermia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619828", + "label": "Spermatogenic failure 70" + } + } + ], + "metaData": { + "created": "2024-06-11T18:12:44.401047Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_71_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_71_patient_1.json new file mode 100644 index 000000000..d325fabf9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_71_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_71", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034299", + "label": "Sertoli cell-only phenotype" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619831", + "label": "Spermatogenic failure 71" + } + } + ], + "metaData": { + "created": "2024-06-11T23:51:09.146761Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_72_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_72_patient_1.json new file mode 100644 index 000000000..035da622d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_72_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "spermatogenic_failure_72", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032559", + "label": "Short sperm flagella" + } + }, + { + "type": { + "id": "HP:0032558", + "label": "Absent sperm flagella" + } + }, + { + "type": { + "id": "HP:0033393", + "label": "Irregularly shaped sperm tail" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619867", + "label": "Spermatogenic failure 72" + } + } + ], + "metaData": { + "created": "2024-06-11T20:35:14.067366Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_73_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_73_patient_1.json new file mode 100644 index 000000000..c248259bb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_73_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_73", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011961", + "label": "Non-obstructive azoospermia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619878", + "label": "Spermatogenic failure 73" + } + } + ], + "metaData": { + "created": "2024-06-11T22:22:05.528004Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_74_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_74_patient_1.json new file mode 100644 index 000000000..4b9103a07 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_74_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_74", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031038", + "label": "Spermatogenesis maturation arrest" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619937", + "label": "Spermatogenic failure 74" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:59.724632Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_75_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_75_patient_1.json new file mode 100644 index 000000000..dc550dd7e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_75_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_75", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008232", + "label": "Elevated circulating follicle stimulating hormone level" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619949", + "label": "Spermatogenic failure 75" + } + } + ], + "metaData": { + "created": "2024-06-11T18:23:25.357774Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_76_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_76_patient_1.json new file mode 100644 index 000000000..14774b2e7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_76_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "spermatogenic_failure_76", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033393", + "label": "Irregularly shaped sperm tail" + } + }, + { + "type": { + "id": "HP:0000798", + "label": "Oligozoospermia" + } + }, + { + "type": { + "id": "HP:0012208", + "label": "Immotile sperm" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620084", + "label": "Spermatogenic failure 76" + } + } + ], + "metaData": { + "created": "2024-06-11T22:44:02.185822Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_77_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_77_patient_1.json new file mode 100644 index 000000000..ee964c3a8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_77_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "spermatogenic_failure_77", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008232", + "label": "Elevated circulating follicle stimulating hormone level" + } + }, + { + "type": { + "id": "HP:0034309", + "label": "Multiflagellar spermatozoa" + } + }, + { + "type": { + "id": "HP:0000798", + "label": "Oligozoospermia" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620103", + "label": "Spermatogenic failure 77" + } + } + ], + "metaData": { + "created": "2024-06-11T19:06:26.645395Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_78_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_78_patient_1.json new file mode 100644 index 000000000..ea3c832e3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_78_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_78", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0032561", + "label": "Microcephalic sperm head" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620170", + "label": "Spermatogenic failure 78" + } + } + ], + "metaData": { + "created": "2024-06-11T19:38:20.801236Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_79_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_79_patient_1.json new file mode 100644 index 000000000..6854b2bd4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_79_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_79", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012207", + "label": "Reduced sperm motility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620196", + "label": "Spermatogenic failure 79" + } + } + ], + "metaData": { + "created": "2024-06-11T22:23:05.575238Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_7_patient_1.json new file mode 100644 index 000000000..646a56c0f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_7_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0012874", + "label": "Abnormal male reproductive system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612997", + "label": "Spermatogenic failure 7" + } + } + ], + "metaData": { + "created": "2024-06-11T18:27:22.167515Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_80_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_80_patient_1.json new file mode 100644 index 000000000..499883220 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_80_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_80", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034011", + "label": "Reduced progressive sperm motility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620222", + "label": "Spermatogenic failure 80" + } + } + ], + "metaData": { + "created": "2024-06-11T22:38:08.831340Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_81_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_81_patient_1.json new file mode 100644 index 000000000..28c316c48 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_81_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "spermatogenic_failure_81", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034011", + "label": "Reduced progressive sperm motility" + } + }, + { + "type": { + "id": "HP:0000798", + "label": "Oligozoospermia" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620277", + "label": "Spermatogenic failure 81" + } + } + ], + "metaData": { + "created": "2024-06-11T18:53:56.621673Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_82_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_82_patient_1.json new file mode 100644 index 000000000..a6240094d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_82_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_82", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032559", + "label": "Short sperm flagella" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620353", + "label": "Spermatogenic failure 82" + } + } + ], + "metaData": { + "created": "2024-06-11T21:15:37.081085Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_83_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_83_patient_1.json new file mode 100644 index 000000000..f2bcb9ba0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_83_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_83", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034947", + "label": "Altered location of the longitudinal column in the fibrous sheath" + } + }, + { + "type": { + "id": "HP:0012208", + "label": "Immotile sperm" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620354", + "label": "Spermatogenic failure 83" + } + } + ], + "metaData": { + "created": "2024-06-11T22:01:29.788177Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_84_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_84_patient_1.json new file mode 100644 index 000000000..646ed88cc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_84_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "spermatogenic_failure_84", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0032559", + "label": "Short sperm flagella" + } + }, + { + "type": { + "id": "HP:0012207", + "label": "Reduced sperm motility" + } + }, + { + "type": { + "id": "HP:0032558", + "label": "Absent sperm flagella" + } + }, + { + "type": { + "id": "HP:0012243", + "label": "Abnormal reproductive system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620409", + "label": "Spermatogenic failure 84" + } + } + ], + "metaData": { + "created": "2024-06-11T21:15:16.624600Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_85_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_85_patient_1.json new file mode 100644 index 000000000..70b25648c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_85_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "spermatogenic_failure_85", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000144", + "label": "Decreased fertility" + } + }, + { + "type": { + "id": "HP:0012865", + "label": "Abnormal sperm head morphology" + } + }, + { + "type": { + "id": "HP:0012206", + "label": "Abnormal sperm motility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620490", + "label": "Spermatogenic failure 85" + } + } + ], + "metaData": { + "created": "2024-06-12T01:42:21.307831Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_86_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_86_patient_1.json new file mode 100644 index 000000000..88964faa9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_86_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_86", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012869", + "label": "Acephalic spermatozoa" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620499", + "label": "Spermatogenic failure 86" + } + } + ], + "metaData": { + "created": "2024-06-11T19:14:36.784718Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_87_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_87_patient_1.json new file mode 100644 index 000000000..9d73da6fb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_87_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_87", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620500", + "label": "Spermatogenic failure 87" + } + } + ], + "metaData": { + "created": "2024-06-11T18:30:32.490677Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_88_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_88_patient_1.json new file mode 100644 index 000000000..e68ebf910 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_88_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure_88", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0008669", + "label": "Abnormal spermatogenesis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620547", + "label": "Spermatogenic failure 88" + } + } + ], + "metaData": { + "created": "2024-06-11T22:12:19.615799Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_8_patient_1.json new file mode 100644 index 000000000..ab32159a2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_8_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030974", + "label": "Cryptozoospermia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613957", + "label": "Spermatogenic failure 8" + } + } + ], + "metaData": { + "created": "2024-06-11T21:37:55.260428Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_9_patient_1.json new file mode 100644 index 000000000..9ef76ce54 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_9_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613958", + "label": "Spermatogenic failure 9" + } + } + ], + "metaData": { + "created": "2024-06-11T20:50:23.869375Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_X_linked_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_X_linked_2_patient_1.json new file mode 100644 index 000000000..2cf88589d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_X_linked_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure,_x-linked_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031038", + "label": "Spermatogenesis maturation arrest" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:309120", + "label": "Spermatogenic failure, X-linked 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:09:47.082689Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_X_linked_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_X_linked_3_patient_1.json new file mode 100644 index 000000000..46c95b766 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_X_linked_3_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "spermatogenic_failure,_x-linked,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012208", + "label": "Immotile sperm" + } + }, + { + "type": { + "id": "HP:0033393", + "label": "Irregularly shaped sperm tail" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301059", + "label": "Spermatogenic failure, X-linked, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:19:41.999947Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_X_linked_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_X_linked_4_patient_1.json new file mode 100644 index 000000000..1cce504ac --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_X_linked_4_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spermatogenic_failure,_x-linked,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0040171", + "label": "Decreased serum testosterone concentration" + } + }, + { + "type": { + "id": "HP:0008232", + "label": "Elevated circulating follicle stimulating hormone level" + } + }, + { + "type": { + "id": "HP:0012874", + "label": "Abnormal male reproductive system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301077", + "label": "Spermatogenic failure, X-linked, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T18:29:11.199861Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_X_linked_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_X_linked_5_patient_1.json new file mode 100644 index 000000000..edf358251 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_X_linked_5_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure,_x-linked,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0032560", + "label": "Coiled sperm flagella" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301099", + "label": "Spermatogenic failure, X-linked, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T18:55:44.820559Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_X_linked_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_X_linked_6_patient_1.json new file mode 100644 index 000000000..3de360b9a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_X_linked_6_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure,_x-linked,_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032561", + "label": "Microcephalic sperm head" + } + }, + { + "type": { + "id": "HP:0033525", + "label": "Absent sperm axoneme central pair complex" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301101", + "label": "Spermatogenic failure, X-linked, 6" + } + } + ], + "metaData": { + "created": "2024-06-11T17:55:00.767170Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_X_linked_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_X_linked_7_patient_1.json new file mode 100644 index 000000000..cfc3f77ee --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_X_linked_7_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spermatogenic_failure,_x-linked,_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012207", + "label": "Reduced sperm motility" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301106", + "label": "Spermatogenic failure, X-linked, 7" + } + } + ], + "metaData": { + "created": "2024-06-11T18:45:08.705055Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_Y_linked_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_Y_linked_1_patient_1.json new file mode 100644 index 000000000..483420eb1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_Y_linked_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure,_y-linked,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:400042", + "label": "Spermatogenic failure, Y-linked, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:42:51.623617Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_Y_linked_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_Y_linked_2_patient_1.json new file mode 100644 index 000000000..9c11f5fd8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spermatogenic_failure_Y_linked_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spermatogenic_failure,_y-linked,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000027", + "label": "Azoospermia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:415000", + "label": "Spermatogenic failure, Y-linked, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:21:01.748585Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spherocytosis_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spherocytosis_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..6d60083a0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spherocytosis_autosomal_recessive_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spherocytosis,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001878", + "label": "Hemolytic anemia" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:270970", + "label": "Spherocytosis, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T22:01:04.628051Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spherocytosis_type_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spherocytosis_type_1_patient_1.json new file mode 100644 index 000000000..40385fb90 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spherocytosis_type_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spherocytosis,_type_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004444", + "label": "Spherocytosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:182900", + "label": "Spherocytosis, type 1" + } + } + ], + "metaData": { + "created": "2024-06-12T00:50:35.666169Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spherocytosis_type_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spherocytosis_type_2_patient_1.json new file mode 100644 index 000000000..2e5828449 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spherocytosis_type_2_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "spherocytosis,_type_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001744", + "label": "Splenomegaly" + } + }, + { + "type": { + "id": "HP:0004444", + "label": "Spherocytosis" + } + }, + { + "type": { + "id": "HP:0008282", + "label": "Unconjugated hyperbilirubinemia" + } + }, + { + "type": { + "id": "HP:0001396", + "label": "Cholestasis" + } + }, + { + "type": { + "id": "HP:0020054", + "label": "Abnormal erythrocyte physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616649", + "label": "Spherocytosis, type 2" + } + } + ], + "metaData": { + "created": "2024-06-11T17:53:56.503006Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spherocytosis_type_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spherocytosis_type_4_patient_1.json new file mode 100644 index 000000000..25666f03b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spherocytosis_type_4_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spherocytosis,_type_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004444", + "label": "Spherocytosis" + } + }, + { + "type": { + "id": "HP:0002904", + "label": "Hyperbilirubinemia" + } + }, + { + "type": { + "id": "HP:0025408", + "label": "Abnormal spleen morphology" + } + }, + { + "type": { + "id": "HP:0005502", + "label": "Increased red cell osmotic fragility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612653", + "label": "Spherocytosis, type 4" + } + } + ], + "metaData": { + "created": "2024-06-11T21:08:23.875167Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spherocytosis_type_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spherocytosis_type_5_patient_1.json new file mode 100644 index 000000000..92b785711 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spherocytosis_type_5_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spherocytosis,_type_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004444", + "label": "Spherocytosis" + } + }, + { + "type": { + "id": "HP:0001744", + "label": "Splenomegaly" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0001396", + "label": "Cholestasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612690", + "label": "Spherocytosis, type 5" + } + } + ], + "metaData": { + "created": "2024-06-11T21:10:41.156170Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_and_bulbar_muscular_atrophy_X_linked_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_and_bulbar_muscular_atrophy_X_linked_1_patient_1.json new file mode 100644 index 000000000..8bfea6806 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_and_bulbar_muscular_atrophy_X_linked_1_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "spinal_and_bulbar_muscular_atrophy,_x-linked_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009830", + "label": "Peripheral neuropathy" + } + }, + { + "type": { + "id": "HP:0001265", + "label": "Hyporeflexia" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0003435", + "label": "Cold-induced hand cramps" + } + }, + { + "type": { + "id": "HP:0000153", + "label": "Abnormality of the mouth" + } + }, + { + "type": { + "id": "HP:0000029", + "label": "Testicular atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:313200", + "label": "Spinal and bulbar muscular atrophy, X-linked 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:34:12.047495Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_arachnoiditis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_arachnoiditis_patient_1.json new file mode 100644 index 000000000..819865474 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_arachnoiditis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spinal_arachnoiditis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002313", + "label": "Spastic paraparesis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:182950", + "label": "Spinal arachnoiditis" + } + } + ], + "metaData": { + "created": "2024-06-11T19:54:51.240463Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_dysplasia_Anhalt_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_dysplasia_Anhalt_type_patient_1.json new file mode 100644 index 000000000..fd075e209 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_dysplasia_Anhalt_type_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "spinal_dysplasia,_anhalt_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002944", + "label": "Thoracolumbar scoliosis" + } + }, + { + "type": { + "id": "HP:0008464", + "label": "Absent spinous processes of lower thoracic and lumbar vertebrae" + } + }, + { + "type": { + "id": "HP:0008467", + "label": "Thoracic hemivertebrae" + } + }, + { + "type": { + "id": "HP:0001167", + "label": "Abnormal finger morphology" + } + }, + { + "type": { + "id": "HP:0008845", + "label": "Mesomelic short stature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601344", + "label": "Spinal dysplasia, Anhalt type" + } + } + ], + "metaData": { + "created": "2024-06-11T20:24:31.239274Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_intradural_arachnoid_cysts_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_intradural_arachnoid_cysts_patient_1.json new file mode 100644 index 000000000..ef00a620a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_intradural_arachnoid_cysts_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spinal_intradural_arachnoid_cysts", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100702", + "label": "Arachnoid cyst" + } + }, + { + "type": { + "id": "HP:0041087", + "label": "Compression-fractured lumbar vertebra" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:182990", + "label": "Spinal intradural arachnoid cysts" + } + } + ], + "metaData": { + "created": "2024-06-11T19:29:36.713593Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_Facioscapulohumeral_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_Facioscapulohumeral_type_patient_1.json new file mode 100644 index 000000000..0fb54ad66 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_Facioscapulohumeral_type_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spinal_muscular_atrophy,_facioscapulohumeral_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007269", + "label": "Spinal muscular atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:182970", + "label": "Spinal muscular atrophy, Facioscapulohumeral type" + } + } + ], + "metaData": { + "created": "2024-06-11T21:41:31.834525Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_Jokela_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_Jokela_type_patient_1.json new file mode 100644 index 000000000..3c821c2f6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_Jokela_type_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "spinal_muscular_atrophy,_jokela_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001284", + "label": "Areflexia" + } + }, + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0030665", + "label": "Rubral tremor" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0003327", + "label": "Axial muscle weakness" + } + }, + { + "type": { + "id": "HP:0006959", + "label": "Proximal spinal muscular atrophy" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0034398", + "label": "Toe deformity" + } + }, + { + "type": { + "id": "HP:0008968", + "label": "Muscle hypertrophy of the lower extremities" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615048", + "label": "Spinal muscular atrophy, Jokela type" + } + } + ], + "metaData": { + "created": "2024-06-11T21:04:53.074833Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_Ryukyuan_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_Ryukyuan_type_patient_1.json new file mode 100644 index 000000000..7ddbb97b6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_Ryukyuan_type_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spinal_muscular_atrophy,_ryukyuan_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002751", + "label": "Kyphoscoliosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:271200", + "label": "Spinal muscular atrophy, Ryukyuan type" + } + } + ], + "metaData": { + "created": "2024-06-11T23:28:33.188416Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_X_linked_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_X_linked_2_patient_1.json new file mode 100644 index 000000000..6823f4ef4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_X_linked_2_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "spinal_muscular_atrophy,_x-linked_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003236", + "label": "Elevated circulating creatine kinase concentration" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0000054", + "label": "Micropenis" + } + }, + { + "type": { + "id": "HP:0012389", + "label": "Appendicular hypotonia" + } + }, + { + "type": { + "id": "HP:0002058", + "label": "Myopathic facies" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0410219", + "label": "Hypoplasia of mandible relative to maxilla" + } + }, + { + "type": { + "id": "HP:0034057", + "label": "Fetal anomaly" + } + }, + { + "type": { + "id": "HP:0003808", + "label": "Abnormal muscle tone" + } + }, + { + "type": { + "id": "HP:0025429", + "label": "Abnormal cry" + } + }, + { + "type": { + "id": "HP:0012853", + "label": "Scrotal hypospadias" + } + }, + { + "type": { + "id": "HP:0031815", + "label": "Abnormal oral physiology" + } + }, + { + "type": { + "id": "HP:0008689", + "label": "Bilateral cryptorchidism" + } + }, + { + "type": { + "id": "HP:0031004", + "label": "Hemiareflexia" + } + }, + { + "type": { + "id": "HP:0004889", + "label": "Intermittent episodes of respiratory insufficiency due to muscle weakness" + } + }, + { + "type": { + "id": "HP:0033383", + "label": "Decreased compound muscle action potential amplitude" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301830", + "label": "Spinal muscular atrophy, X-linked 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:28:56.892501Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_distal_X_linked_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_distal_X_linked_3_patient_1.json new file mode 100644 index 000000000..b6509e0b2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_distal_X_linked_3_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "spinal_muscular_atrophy,_distal,_x-linked_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003457", + "label": "EMG abnormality" + } + }, + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0006962", + "label": "Gait instability, worse in the dark" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300489", + "label": "Spinal muscular atrophy, distal, X-linked 3" + } + } + ], + "metaData": { + "created": "2024-06-11T22:15:13.947060Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_distal_autosomal_recessive_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_distal_autosomal_recessive_1_patient_1.json new file mode 100644 index 000000000..64725f251 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_distal_autosomal_recessive_1_patient_1.json @@ -0,0 +1,147 @@ +{ + "id": "spinal_muscular_atrophy,_distal,_autosomal_recessive,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001265", + "label": "Hyporeflexia" + } + }, + { + "type": { + "id": "HP:0005946", + "label": "Ventilator dependence with inability to wean" + } + }, + { + "type": { + "id": "HP:0009110", + "label": "Diaphragmatic eventration" + } + }, + { + "type": { + "id": "HP:0002460", + "label": "Distal muscle weakness" + } + }, + { + "type": { + "id": "HP:0003693", + "label": "Distal amyotrophy" + } + }, + { + "type": { + "id": "HP:0002019", + "label": "Constipation" + } + }, + { + "type": { + "id": "HP:0001319", 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mode 100644 index 000000000..fea7a6f87 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_distal_autosomal_recessive_2_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "spinal_muscular_atrophy,_distal,_autosomal_recessive,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002460", + "label": "Distal muscle weakness" + } + }, + { + "type": { + "id": "HP:0003693", + "label": "Distal amyotrophy" + } + }, + { + "type": { + "id": "HP:0003431", + "label": "Decreased motor nerve conduction velocity" + } + }, + { + "type": { + "id": "HP:0009473", + "label": "Joint contracture of the hand" + } + }, + { + "type": { + "id": "HP:0002493", + "label": "Upper motor neuron dysfunction" + } + }, + { + "type": { + "id": "HP:0030179", + "label": "Abnormal peripheral action potential amplitude" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0003438", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_distal_autosomal_recessive_3_patient_1.json new file mode 100644 index 000000000..531c6648c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_distal_autosomal_recessive_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spinal_muscular_atrophy,_distal,_autosomal_recessive,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002792", + "label": "Reduced vital capacity" + } + }, + { + "type": { + "id": "HP:0003445", + "label": "EMG: neuropathic changes" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607088", + "label": "Spinal muscular atrophy, distal, autosomal recessive, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T21:38:13.113582Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + 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"namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_distal_autosomal_recessive_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_distal_autosomal_recessive_5_patient_1.json new file mode 100644 index 000000000..f151adf67 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_distal_autosomal_recessive_5_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "spinal_muscular_atrophy,_distal,_autosomal_recessive,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009027", + "label": "Foot dorsiflexor weakness" + } + }, + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0001618", + "label": "Dysphonia" + } + } + ], + "diseases": [ + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_distal_autosomal_recessive_6_patient_1.json new file mode 100644 index 000000000..efc36d1af --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_distal_autosomal_recessive_6_patient_1.json @@ -0,0 +1,140 @@ +{ + "id": "spinal_muscular_atrophy,_distal,_autosomal_recessive,_6", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031189", + "label": "Wrist drop" + } + }, + { + "type": { + "id": "HP:0009027", + "label": "Foot dorsiflexor weakness" + } + }, + { + "type": { + "id": "HP:0009830", + "label": "Peripheral neuropathy" + } + }, + { + "type": { + "id": "HP:0012179", + "label": "Craniofacial dystonia" + } + }, + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_infantile_James_type_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "spinal_muscular_atrophy,_infantile,_james_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003693", + "label": "Distal amyotrophy" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0031936", + "label": "Delayed ability to walk" + } + }, + { + "type": { + "id": "HP:0001384", + "label": "Abnormal hip joint morphology" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0100884", + "label": "Compensatory scoliosis" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0003557", + "label": "Increased 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_lower_extremity_predominant_1_autosomal_dominant_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spinal_muscular_atrophy,_lower_extremity-predominant,_1,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003731", + "label": "Quadriceps muscle weakness" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0009037", + "label": "Segmental spinal muscular atrophy" + } + }, + { + "type": { + "id": "HP:0001265", + "label": "Hyporeflexia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:158600", + "label": "Spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T22:40:57.277178Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_with_mental_retardation_patient_1.json new file mode 100644 index 000000000..459633a4c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinal_muscular_atrophy_with_mental_retardation_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spinal_muscular_atrophy_with_mental_retardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001159", + "label": "Syndactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:271109", + "label": "Spinal muscular atrophy with mental retardation" + } + } + ], + "metaData": { + "created": "2024-06-11T19:53:49.825942Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + 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"metaData": { + "created": "2024-06-11T22:55:37.478222Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_11_patient_1.json new file mode 100644 index 000000000..51049bbf9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_11_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "spinocerebellar_ataxia_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002078", + "label": "Truncal ataxia" + } + }, + { + "type": { + "id": "HP:0002070", + "label": "Limb ataxia" + } + }, + { + "type": { + "id": "HP:0002464", + "label": "Spastic dysarthria" + } + }, + { + "type": { + "id": "HP:0012651", + "label": "Abasia" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0007979", + "label": "Gaze-evoked horizontal nystagmus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604432", + "label": "Spinocerebellar ataxia 11" + } + } + ], + "metaData": { + "created": "2024-06-11T22:13:48.612302Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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"type": { + "id": "HP:0007256", + "label": "Abnormal pyramidal sign" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0012758", + "label": "Neurodevelopmental delay" + } + }, + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + } + }, + { + "type": { + "id": "HP:0008003", + "label": "Jerky ocular pursuit movements" + } + }, + { + "type": { + "id": "HP:0001317", + "label": "Abnormal cerebellum morphology" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0003474", + "label": "Somatic sensory dysfunction" + } + }, + { + "type": { + "id": "HP:0002070", + "label": "Limb ataxia" + } + }, + { + "type": { + "id": "HP:0006889", + "label": "Intellectual disability, borderline" + } + }, + { + "type": { + "id": "HP:0007958", + "label": "Optic atrophy from cranial nerve compression" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0002464", + "label": "Spastic dysarthria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605259", + "label": "Spinocerebellar ataxia 13" + } + } + ], + "metaData": { + "created": "2024-06-11T21:47:35.071529Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_14_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_14_patient_1.json new file mode 100644 index 000000000..0fe4d203e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_14_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "spinocerebellar_ataxia_14", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0001272", + "label": "Cerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0006938", + "label": "Impaired vibration sensation at ankles" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605361", + "label": "Spinocerebellar ataxia 14" + } + } + ], + "metaData": { + "created": "2024-06-12T00:31:53.128418Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_15_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_15_patient_1.json new file mode 100644 index 000000000..5aa2ad3c7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_15_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "spinocerebellar_ataxia_15", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002174", + "label": "Postural tremor" + } + }, + { + "type": { + "id": "HP:0002345", + "label": "Action tremor" + } + }, + { + "type": { + "id": "HP:0002168", + "label": "Scanning speech" + } + }, + { + "type": { + "id": "HP:0002078", + "label": "Truncal ataxia" + } + }, + { + "type": { + "id": "HP:0012080", + "label": "Cerebellar granular layer atrophy" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606658", + "label": "Spinocerebellar ataxia 15" + } + } + ], + "metaData": { + "created": "2024-06-11T17:51:37.659705Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_17_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_17_patient_1.json new file mode 100644 index 000000000..59ffb8dc8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_17_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "spinocerebellar_ataxia_17", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002529", + "label": "Neuronal loss in central nervous system" + } + }, + { + "type": { + "id": "HP:0011999", + "label": "Paranoia" + } + }, + { + "type": { + "id": "HP:0000738", + "label": "Hallucinations" + } + }, + { + "type": { + "id": "HP:0002506", + "label": "Diffuse cerebral atrophy" + } + }, + { + "type": { + "id": "HP:0002015", + "label": "Dysphagia" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0032588", + "label": "Hand apraxia" + } + }, + { + "type": { + "id": "HP:0031258", + "label": "Delirium" + } + }, + { + "type": { + "id": "HP:0030186", + "label": "Kinetic tremor" + } + }, + { + "type": { + "id": "HP:0000757", + "label": "Lack of insight" + } + }, + { + "type": { + "id": "HP:0012651", + "label": "Abasia" + } + }, + { + "type": { + "id": "HP:0002268", + "label": "Paroxysmal dystonia" + } + }, + { + "type": { + "id": "HP:0025142", + "label": "Constitutional symptom" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0002548", + "label": "Parkinsonism with favorable response to dopaminergic medication" + } + }, + { + "type": { + "id": "HP:0002439", + "label": "Frontolimbic dementia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607136", + "label": "Spinocerebellar ataxia 17" + } + } + ], + "metaData": { + "created": "2024-06-11T19:47:15.833675Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_18_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_18_patient_1.json new file mode 100644 index 000000000..c5a0026cd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_18_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "spinocerebellar_ataxia_18", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001310", + "label": "Dysmetria" + } + }, + { + "type": { + "id": "HP:0003690", + "label": "Limb muscle weakness" + } + }, + { + "type": { + "id": "HP:0001284", + "label": "Areflexia" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0003390", + "label": "Sensory axonal neuropathy" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0011399", + "label": "Tibialis anterior muscle atrophy" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607458", + "label": "Spinocerebellar ataxia 18" + } + } + ], + "metaData": { + "created": "2024-06-11T21:04:39.469025Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_19_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_19_patient_1.json new file mode 100644 index 000000000..6f6e4963d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_19_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "spinocerebellar_ataxia_19", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002015", + "label": "Dysphagia" + } + }, + { + "type": { + "id": "HP:0001152", + "label": "Saccadic smooth pursuit" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0025711", + "label": "Convergence-retraction nystagmus" + } + }, + { + "type": { + "id": "HP:0012082", + "label": "Cerebellar Purkinje layer atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607346", + "label": "Spinocerebellar ataxia 19" + } + } + ], + "metaData": { + 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+{ + "id": "spinocerebellar_ataxia_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002198", + "label": "Dilated fourth ventricle" + } + }, + { + "type": { + "id": "HP:0002078", + "label": "Truncal ataxia" + } + }, + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + }, + { + "type": { + "id": "HP:0002015", + "label": "Dysphagia" + } + }, + { + "type": { + "id": "HP:0006937", + "label": "Impaired distal tactile sensation" + } + }, + { + "type": { + "id": "HP:0011442", + "label": "Abnormal central motor function" + } + }, + { + "type": { + "id": "HP:0002839", + "label": "Urinary bladder sphincter dysfunction" + } + }, + { + "type": { + "id": "HP:0006886", + "label": "Impaired distal vibration sensation" + } + }, + { + "type": { + "id": "HP:0006904", + "label": "Late-onset spinocerebellar degeneration" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0010871", + "label": "Sensory ataxia" + } + }, + { + "type": { + "id": "HP:0002071", + "label": "Abnormality of extrapyramidal motor function" + } + }, + { + "type": { + "id": "HP:0003448", + "label": "Decreased sensory nerve conduction velocity" + } + }, + { + "type": { + "id": "HP:0000570", + "label": "Abnormal saccadic eye movements" + } + }, + { + "type": { + "id": "HP:0012443", + "label": "Abnormal brain morphology" + } + }, + { + "type": { + "id": "HP:0002168", + "label": "Scanning speech" + } + }, + { + "type": { + "id": "HP:0004305", + "label": "Involuntary movements" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:164400", + "label": "Spinocerebellar ataxia 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:19:52.944132Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_20_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_20_patient_1.json new file mode 100644 index 000000000..59e5244c4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_20_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spinocerebellar_ataxia_20", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007351", + "label": "Upper limb postural tremor" + } + }, + { + "type": { + "id": "HP:0004305", + "label": "Involuntary movements" + } + }, + { + "type": { + "id": "HP:0031832", + "label": "Hypermetric downward saccades" + } + }, + { + "type": { + "id": "HP:0002070", + "label": "Limb ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608687", + "label": "Spinocerebellar ataxia 20" + } + } + ], + "metaData": { + "created": "2024-06-12T02:15:45.162728Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_21_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_21_patient_1.json new file mode 100644 index 000000000..c5abd865d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_21_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "spinocerebellar_ataxia_21", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000718", + "label": "Aggressive behavior" + } + }, + { + "type": { + "id": "HP:0001300", + "label": "Parkinsonism" + } + }, + { + "type": { + "id": "HP:0000514", + "label": "Slow saccadic eye movements" + } + }, + { + "type": { + "id": "HP:0010526", + "label": "Dysgraphia" + } + }, + { + "type": { + "id": "HP:0002080", + "label": "Intention tremor" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0002168", + "label": "Scanning speech" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607454", + "label": "Spinocerebellar ataxia 21" + } + } + ], + "metaData": { + "created": "2024-06-11T20:42:51.292440Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_23_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_23_patient_1.json new file mode 100644 index 000000000..c562048a0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_23_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "spinocerebellar_ataxia_23", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0002070", + "label": "Limb ataxia" + } + }, + { + "type": { + "id": "HP:0001272", + "label": "Cerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0002066", + "label": "Gait ataxia" + } + }, + { + "type": { + "id": "HP:0000514", + "label": "Slow saccadic eye movements" + } + }, + { + "type": { + "id": "HP:0007305", + "label": "CNS demyelination" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0002529", + "label": "Neuronal loss in central nervous system" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0000641", + "label": "Dysmetric saccades" + } + }, + { + "type": { + "id": "HP:0001337", + "label": "Tremor" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610245", + "label": "Spinocerebellar ataxia 23" + } + } + ], + "metaData": { + "created": "2024-06-11T21:36:24.792081Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_25_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_25_patient_1.json new file mode 100644 index 000000000..663016a31 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_25_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "spinocerebellar_ataxia_25", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002522", + "label": "Areflexia of lower limbs" + } + }, + { + "type": { + "id": "HP:0006944", + "label": "Abolished vibration sense" + } + }, + { + "type": { + "id": "HP:0003380", + "label": "Decreased number of peripheral myelinated nerve fibers" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0002497", + "label": "Spastic ataxia" + } + }, + { + "type": { + "id": "HP:0009830", + "label": "Peripheral neuropathy" + } + }, + { + "type": { + "id": "HP:0006879", + "label": "Pontocerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0007021", + "label": "Pain insensitivity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608703", + "label": "Spinocerebellar ataxia 25" + } + } + ], + "metaData": { + "created": "2024-06-11T18:27:26.627729Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_26_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_26_patient_1.json new file mode 100644 index 000000000..ba7fc30f8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_26_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "spinocerebellar_ataxia_26", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007024", + "label": "Pseudobulbar paralysis" + } + }, + { + "type": { + "id": "HP:0100275", + "label": "Diffuse cerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0002311", + "label": "Incoordination" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0007221", + "label": "Progressive truncal ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609306", + "label": "Spinocerebellar ataxia 26" + } + } + ], + "metaData": { + "created": "2024-06-11T21:22:57.543056Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_27B_late_onset_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_27B_late_onset_patient_1.json new file mode 100644 index 000000000..d1d04dc17 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_27B_late_onset_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "spinocerebellar_ataxia_27b,_late-onset", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010545", + "label": "Downbeat nystagmus" + } + }, + { + "type": { + "id": "HP:0012080", + "label": "Cerebellar granular layer atrophy" + } + }, + { + "type": { + "id": "HP:0002070", + "label": "Limb ataxia" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0002345", + "label": "Action tremor" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620174", + "label": "Spinocerebellar ataxia 27B, late-onset" + } + } + ], + "metaData": { + "created": "2024-06-11T20:48:21.954774Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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"label": "Cerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0002395", + "label": "Lower limb hyperreflexia" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0000641", + "label": "Dysmetric saccades" + } + }, + { + "type": { + "id": "HP:0006895", + "label": "Lower limb hypertonia" + } + }, + { + "type": { + "id": "HP:0002066", + "label": "Gait ataxia" + } + }, + { + "type": { + "id": "HP:0000514", + "label": "Slow saccadic eye movements" + } + }, + { + "type": { + "id": "HP:0000597", + "label": "Ophthalmoparesis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610246", + "label": "Spinocerebellar ataxia 28" + } + } + ], + "metaData": { + "created": "2024-06-11T21:12:25.334335Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_29_congenital_nonprogressive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_29_congenital_nonprogressive_patient_1.json new file mode 100644 index 000000000..3dc5ea3c3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_29_congenital_nonprogressive_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "spinocerebellar_ataxia_29,_congenital_nonprogressive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002384", + "label": "Focal 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}, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0011282", + "label": "Abnormal hindbrain morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:117360", + "label": "Spinocerebellar ataxia 29, congenital nonprogressive" + } + } + ], + "metaData": { + "created": "2024-06-11T21:47:17.083159Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_2_patient_1.json new file mode 100644 index 000000000..0ee9fefc7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_2_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "spinocerebellar_ataxia_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0000514", + "label": "Slow saccadic eye movements" + } + }, + { + "type": { + "id": "HP:0003693", + "label": "Distal amyotrophy" + } + }, + { + "type": { + "id": "HP:0000602", + "label": "Ophthalmoplegia" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0000570", + "label": "Abnormal saccadic eye movements" + } + }, + { + "type": { + "id": "HP:0002172", + "label": 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"Cerebellar atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613371", + "label": "Spinocerebellar ataxia 30" + } + } + ], + "metaData": { + "created": "2024-06-11T21:54:06.246933Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_31_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_31_patient_1.json new file mode 100644 index 000000000..995e2b655 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_31_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spinocerebellar_ataxia_31", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002070", + "label": "Limb ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:117210", + "label": "Spinocerebellar ataxia 31" + } + } + ], + "metaData": { + "created": "2024-06-11T21:58:21.748202Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_32_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_32_patient_1.json new file mode 100644 index 000000000..22ca60afc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_32_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spinocerebellar_ataxia_32", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0000789", + "label": "Infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613909", + "label": "Spinocerebellar ataxia 32" + } + } + ], + "metaData": { + "created": "2024-06-11T23:18:35.758527Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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"HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0007543", + "label": "Epidermal hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0002075", + "label": "Dysdiadochokinesis" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:133190", + "label": "Spinocerebellar ataxia 34" + } + } + ], + "metaData": { + "created": "2024-06-11T20:29:28.727402Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_35_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_35_patient_1.json new file mode 100644 index 000000000..6e0936a3c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_35_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spinocerebellar_ataxia_35", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007024", + "label": "Pseudobulbar paralysis" + } + }, + { + "type": { + "id": "HP:0002505", + "label": "Loss of ambulation" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0004305", + "label": "Involuntary movements" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613908", + "label": "Spinocerebellar ataxia 35" + } + } + ], + "metaData": { + "created": "2024-06-11T23:17:30.084152Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_36_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_36_patient_1.json new file mode 100644 index 000000000..864e18b80 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_36_patient_1.json @@ -0,0 +1,129 @@ +{ + 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of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_37_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_37_patient_1.json new file mode 100644 index 000000000..b01ddee27 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_37_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spinocerebellar_ataxia_37", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615945", + "label": "Spinocerebellar ataxia 37" + } + } + ], + "metaData": { + "created": "2024-06-11T23:49:08.615651Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_38_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_38_patient_1.json new file mode 100644 index 000000000..31cc52a5d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_38_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spinocerebellar_ataxia_38", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0002066", + "label": "Gait ataxia" + } + }, + { + "type": { + "id": "HP:0000514", + "label": "Slow saccadic eye movements" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615957", + "label": "Spinocerebellar ataxia 38" + } + } + ], + "metaData": { + "created": "2024-06-11T23:01:10.167560Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_40_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_40_patient_1.json new file mode 100644 index 000000000..1499e3ea9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_40_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "spinocerebellar_ataxia_40", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006879", + "label": "Pontocerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0002168", + "label": "Scanning speech" + } + }, + { + "type": { + "id": "HP:0020036", + "label": "Upper limb dysmetria" + } + }, + { + "type": { + "id": "HP:0007199", + "label": "Progressive spastic paraparesis" + } + }, + { + "type": { + "id": "HP:0002080", + "label": "Intention tremor" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0011448", + "label": "Ankle clonus" + } + }, + { + "type": { + "id": "HP:0002136", + "label": "Broad-based gait" + } + }, + { + "type": { + "id": "HP:0007034", + "label": "Generalized hyperreflexia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616053", + "label": "Spinocerebellar ataxia 40" + } + } + ], + "metaData": { + "created": "2024-06-11T23:06:58.744035Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_41_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_41_patient_1.json new file mode 100644 index 000000000..be54443ec --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_41_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "spinocerebellar_ataxia_41", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P41Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002172", + "label": "Postural instability" + } + }, + { + "type": { + "id": "HP:0002317", + "label": "Unsteady gait" + } + }, + { + "type": { + "id": "HP:0002066", + "label": "Gait ataxia" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616410", + "label": "Spinocerebellar ataxia 41" + } + } + ], + "metaData": { + "created": "2024-06-11T20:55:26.579022Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_42_early_onset_severe_with_neurodevelopmental_deficits_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "spinocerebellar_ataxia_42,_early-onset,_severe,_with_neurodevelopmental_deficits", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0001007", + "label": "Hirsutism" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0001310", + "label": "Dysmetria" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0030084", + "label": "Clinodactyly" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0025373", + "label": "Interictal EEG abnormality" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_42_patient_1.json new file mode 100644 index 000000000..b652b1ca9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_42_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "spinocerebellar_ataxia_42", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0000651", + "label": "Diplopia" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0003474", + "label": "Somatic sensory dysfunction" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0006962", + "label": "Gait instability, worse in the dark" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:0031828", + "label": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_43_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_43_patient_1.json new file mode 100644 index 000000000..2a1bd74d6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_43_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "spinocerebellar_ataxia_43", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000571", + "label": "Hypometric saccades" + } + }, + { + "type": { + "id": "HP:0002172", + "label": "Postural instability" + } + }, + { + "type": { + "id": "HP:0006855", + "label": "Cerebellar vermis atrophy" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0012392", + "label": "Jaw hyporeflexia" + } + }, + { + "type": { + "id": "HP:0008376", 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_44_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_44_patient_1.json new file mode 100644 index 000000000..81d152474 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_44_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "spinocerebellar_ataxia_44", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010869", + "label": "Asynergia" + } + }, + { + "type": { + "id": "HP:0011282", + "label": "Abnormal hindbrain morphology" + } + }, + { + "type": { + "id": "HP:0002075", + "label": "Dysdiadochokinesis" + } + }, + { + "type": { + "id": "HP:0000570", + "label": "Abnormal saccadic eye movements" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617691", + "label": "Spinocerebellar ataxia 44" + } + } + ], + "metaData": { + "created": "2024-06-11T20:58:16.379474Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_45_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_45_patient_1.json new file mode 100644 index 000000000..fcad63f65 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_45_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "spinocerebellar_ataxia_45", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007024", + "label": "Pseudobulbar paralysis" + } + }, + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + } + }, + { + "type": { + "id": "HP:0002070", + "label": "Limb ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617769", + "label": "Spinocerebellar ataxia 45" + } + } + ], + "metaData": { + "created": "2024-06-11T17:49:56.541068Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_46_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_46_patient_1.json new file mode 100644 index 000000000..b890bdab1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_46_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spinocerebellar_ataxia_46", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0002464", + "label": "Spastic dysarthria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617770", + "label": "Spinocerebellar ataxia 46" + } + } + ], + "metaData": { + "created": "2024-06-12T02:16:42.742593Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", 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"type": { + "id": "HP:0006855", + "label": "Cerebellar vermis atrophy" + } + }, + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617931", + "label": "Spinocerebellar ataxia 47" + } + } + ], + "metaData": { + "created": "2024-06-11T21:17:43.667593Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_48_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_48_patient_1.json new file mode 100644 index 000000000..d2fa46cfc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_48_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "spinocerebellar_ataxia_48", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0033204", + "label": "Triceps hyperreflexia" + } + }, + { + "type": { + "id": "HP:0002070", + "label": "Limb ataxia" + } + }, + { + "type": { + "id": "HP:0004326", + "label": "Cachexia" + } + }, + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + } + }, + { + "type": { + "id": "HP:0100851", + "label": "Abnormal emotion" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618093", + "label": "Spinocerebellar ataxia 48" + } + } + ], + "metaData": { + "created": "2024-06-11T23:54:29.992597Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_49_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_49_patient_1.json new file mode 100644 index 000000000..76abcc607 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_49_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "spinocerebellar_ataxia_49", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P80Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003596", + "label": "Middle age onset" + } + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619806", + "label": "Spinocerebellar ataxia 49" + } + } + ], + "metaData": { + "created": "2024-06-11T19:01:20.287565Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_4_patient_1.json new file mode 100644 index 000000000..8a115503d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_4_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "spinocerebellar_ataxia_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000763", + "label": "Sensory neuropathy" + } + }, + { + "type": { + "id": "HP:0002936", + "label": "Distal sensory impairment" + } + }, + { + "type": { + "id": "HP:0002073", + "label": "Progressive cerebellar ataxia" + } + }, + { + "type": { + "id": "HP:0002406", + "label": "Limb dysmetria" + } + }, + { + "type": { + "id": "HP:0006844", + "label": "Absent patellar reflexes" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0001151", + "label": "Impaired horizontal smooth pursuit" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600223", + "label": "Spinocerebellar ataxia 4" + } + } + ], + "metaData": { + "created": "2024-06-11T23:12:46.437950Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_50_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_50_patient_1.json new file mode 100644 index 000000000..9891e94cd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_50_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "spinocerebellar_ataxia_50", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0033051", + "label": "Impaired executive functioning" + } + }, + { + "type": { + "id": "HP:0006855", + "label": "Cerebellar vermis atrophy" + } + }, + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + } + }, + { + "type": { + "id": "HP:0006879", + "label": "Pontocerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0001361", + "label": "Nystagmus-induced head nodding" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620158", + "label": "Spinocerebellar ataxia 50" + } + } + ], + "metaData": { + "created": "2024-06-11T19:37:42.022141Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_5_patient_1.json new file mode 100644 index 000000000..2cc8fffc4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_5_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "spinocerebellar_ataxia_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011448", + "label": "Ankle clonus" + } + }, + { + "type": { + "id": "HP:0002136", + "label": "Broad-based gait" + } + }, + { + "type": { + "id": "HP:0001321", + "label": "Cerebellar hypoplasia" + } + }, + { + "type": { + "id": "HP:0007286", + "label": "Horizontal jerk nystagmus" + } + }, + { + "type": { + "id": "HP:0000317", + "label": "Facial myokymia" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600224", + "label": "Spinocerebellar ataxia 5" + } + } + ], + "metaData": { + "created": "2024-06-12T02:16:39.782023Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_6_patient_1.json new file mode 100644 index 000000000..4ac9c9497 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_6_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "spinocerebellar_ataxia_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + } + }, + { + "type": { + "id": "HP:0011282", + "label": "Abnormal hindbrain morphology" + } + }, + { + "type": { + "id": "HP:0004305", + "label": "Involuntary movements" + } + }, + { + "type": { + "id": "HP:0001350", + "label": "Slurred speech" + } + }, + { + "type": { + "id": "HP:0020035", + "label": "Lower limb dysmetria" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0031868", + "label": "Optic ataxia" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:183086", + "label": "Spinocerebellar ataxia 6" + } + } + ], + "metaData": { + "created": "2024-06-11T19:47:43.363859Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_7_patient_1.json new file mode 100644 index 000000000..d115bacff --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_7_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "spinocerebellar_ataxia_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025146", + "label": "Foveal degeneration" + } + }, + { + "type": { + "id": "HP:0002267", + "label": "Exaggerated startle response" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0030665", + "label": "Rubral tremor" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:164500", + "label": "Spinocerebellar ataxia 7" + } + } + ], + "metaData": { + "created": "2024-06-11T23:21:18.094674Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_8_patient_1.json new file mode 100644 index 000000000..4d59ea8c8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_8_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "spinocerebellar_ataxia_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002073", + "label": "Progressive cerebellar ataxia" + } + }, + { + "type": { + "id": "HP:0001272", + "label": "Cerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0000514", + "label": "Slow saccadic eye movements" + } + }, + { + "type": { + "id": "HP:0002062", + "label": "Abnormal pyramidal tract morphology" + } + }, + { + "type": { + "id": "HP:0002015", + "label": "Dysphagia" + } + }, + { + "type": { + "id": "HP:0000763", + "label": "Sensory neuropathy" + } + }, + { + "type": { + "id": "HP:0002311", + "label": "Incoordination" + } + }, + { + "type": { + "id": "HP:0001264", + "label": "Spastic diplegia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608768", + "label": "Spinocerebellar ataxia 8" + } + } + ], + "metaData": { + "created": "2024-06-11T21:30:04.430291Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_X_linked_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_X_linked_1_patient_1.json new file mode 100644 index 000000000..664c75628 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_X_linked_1_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spinocerebellar_ataxia,_x-linked_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0002345", + "label": "Action tremor" + } + }, + { + "type": { + "id": "HP:0012719", + "label": "Functional abnormality of the gastrointestinal tract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:302500", + "label": "Spinocerebellar ataxia, X-linked 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:47:54.810795Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_X_linked_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_X_linked_2_patient_1.json new file mode 100644 index 000000000..4ae2bfb97 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_X_linked_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spinocerebellar_ataxia,_x-linked_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002071", + "label": "Abnormality of extrapyramidal motor function" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:302600", + "label": "Spinocerebellar ataxia, X-linked 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:13:50.316032Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_X_linked_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_X_linked_5_patient_1.json new file mode 100644 index 000000000..7ef0b8660 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_X_linked_5_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spinocerebellar_ataxia,_x-linked_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0001319", + "label": "Neonatal hypotonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300703", + "label": "Spinocerebellar ataxia, X-linked 5" + } + } + ], + "metaData": { + "created": "2024-06-11T21:59:28.761601Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_10_patient_1.json new file mode 100644 index 000000000..442422dbd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_10_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spinocerebellar_ataxia,_autosomal_recessive_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0001310", + "label": "Dysmetria" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0033204", + "label": "Triceps hyperreflexia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613728", + "label": "Spinocerebellar ataxia, autosomal recessive 10" + } + } + ], + "metaData": { + "created": "2024-06-12T01:42:14.687686Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_11_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_11_patient_1.json new file mode 100644 index 000000000..e9e16594f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_11_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "spinocerebellar_ataxia,_autosomal_recessive_11", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001272", + "label": "Cerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0006855", + "label": "Cerebellar vermis atrophy" + } + }, + { + "type": { + "id": "HP:0002070", + "label": "Limb ataxia" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614229", + "label": "Spinocerebellar ataxia, autosomal recessive 11" + } + } + ], + "metaData": { + "created": "2024-06-11T20:05:50.257937Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_12_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_12_patient_1.json new file mode 100644 index 000000000..350307f81 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_12_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "spinocerebellar_ataxia,_autosomal_recessive_12", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0002066", + "label": "Gait ataxia" + } + }, + { + "type": { + "id": "HP:0006855", + "label": "Cerebellar vermis atrophy" + } + }, + { + "type": { + "id": "HP:0009072", + "label": "Decreased Achilles reflex" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614322", + "label": "Spinocerebellar ataxia, autosomal recessive 12" + } + } + ], + "metaData": { + "created": "2024-06-11T23:10:11.526822Z", + 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@@ -0,0 +1,122 @@ +{ + "id": "spinocerebellar_ataxia,_autosomal_recessive_13", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P39Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008936", + "label": "Axial hypotonia" + } + }, + { + "type": { + "id": "HP:0001272", + "label": "Cerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0001310", + "label": "Dysmetria" + } + }, + { + "type": { + "id": "HP:0001344", + "label": "Absent speech" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0000640", + "label": "Gaze-evoked nystagmus" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0002075", + "label": "Dysdiadochokinesis" + } + }, + { + "type": { + "id": "HP:0002540", + "label": "Inability to walk" + } + }, + { + "type": { + "id": "HP:0001337", + "label": "Tremor" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0011344", + "label": "Severe global developmental delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614831", + "label": "Spinocerebellar ataxia, autosomal recessive 13" + } + } + ], + "metaData": { + "created": "2024-06-11T20:41:45.857146Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_14_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_14_patient_1.json new file mode 100644 index 000000000..c14d6c8c0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_14_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "spinocerebellar_ataxia,_autosomal_recessive_14", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000571", + "label": "Hypometric saccades" + } + }, + { + "type": { + "id": "HP:0008003", + "label": "Jerky ocular pursuit movements" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0002474", + "label": "Expressive language delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615386", + "label": "Spinocerebellar ataxia, autosomal recessive 14" + } + } + ], + "metaData": { + "created": "2024-06-11T19:09:37.042517Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_15_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_15_patient_1.json new file mode 100644 index 000000000..0a0b72049 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_15_patient_1.json @@ -0,0 +1,92 @@ +{ + "id": "spinocerebellar_ataxia,_autosomal_recessive_15", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P29Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0002395", + "label": "Lower limb hyperreflexia" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0006962", + "label": "Gait instability, worse in the dark" + } + }, + { + "type": { + "id": "HP:0012391", + "label": "Hyporeflexia of upper limbs" + } + }, + { + "type": { + "id": "HP:0012651", + "label": "Abasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615705", + "label": "Spinocerebellar ataxia, autosomal recessive 15" + } + } + ], + "metaData": { + "created": "2024-06-11T21:31:46.172978Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_16_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_16_patient_1.json new file mode 100644 index 000000000..af3ac1b3c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_16_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "spinocerebellar_ataxia,_autosomal_recessive_16", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001272", + "label": "Cerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0002070", + "label": "Limb ataxia" + } + }, + { + "type": { + "id": "HP:0008373", + "label": "Puberty and gonadal disorders" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615768", + "label": "Spinocerebellar ataxia, autosomal recessive 16" + } + } + ], + "metaData": { + "created": "2024-06-11T19:18:16.670557Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_17_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_17_patient_1.json new file mode 100644 index 000000000..51b3038ce --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_17_patient_1.json @@ -0,0 +1,134 @@ +{ + "id": "spinocerebellar_ataxia,_autosomal_recessive_17", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P12Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0001272", + "label": "Cerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0001310", + "label": "Dysmetria" + } + }, + { + "type": { + "id": "HP:0002066", + "label": "Gait ataxia" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0001320", + "label": "Cerebellar vermis hypoplasia" + } + }, + { + "type": { + "id": "HP:0002312", + "label": "Clumsiness" + } + }, + { + "type": { + "id": "HP:0001321", + "label": "Cerebellar hypoplasia" + } + }, + { + "type": { + "id": "HP:0000664", + "label": "Synophrys" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed 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+ } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_18_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_18_patient_1.json new file mode 100644 index 000000000..00b33b298 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_18_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "spinocerebellar_ataxia,_autosomal_recessive_18", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001310", + "label": "Dysmetria" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0002078", + "label": "Truncal ataxia" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000666", + "label": "Horizontal 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--git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_28_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_28_patient_1.json new file mode 100644 index 000000000..96c4245a1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_28_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "spinocerebellar_ataxia,_autosomal_recessive_28", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0001320", + "label": "Cerebellar vermis hypoplasia" + } + }, + { + "type": { + "id": "HP:0001151", + "label": "Impaired horizontal smooth pursuit" + } + }, + { + "type": { + "id": "HP:0033128", + "label": "Delayed ability to crawl" + } + }, + { + "type": { + "id": "HP:0030180", + "label": "Oppenheim reflex" + } + }, + { + "type": { + 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}, + { + "type": { + "id": "HP:0007024", + "label": "Pseudobulbar paralysis" + } + }, + { + "type": { + "id": "HP:0000570", + "label": "Abnormal saccadic eye movements" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607317", + "label": "Spinocerebellar ataxia, autosomal recessive 4" + } + } + ], + "metaData": { + "created": "2024-06-11T21:21:32.137724Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_6_patient_1.json new file mode 100644 index 000000000..16e8356be --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_6_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "spinocerebellar_ataxia,_autosomal_recessive_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002312", + "label": "Clumsiness" + } + }, + { + "type": { + "id": "HP:0001347", + "label": "Hyperreflexia" + } + }, + { + "type": { + "id": "HP:0001310", + "label": "Dysmetria" + } + }, + { + "type": { + "id": "HP:0002066", + "label": "Gait ataxia" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0012443", + "label": "Abnormal brain morphology" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608029", + "label": "Spinocerebellar ataxia, autosomal recessive 6" + } + } + ], + "metaData": { + "created": "2024-06-11T20:43:02.181198Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_7_patient_1.json new file mode 100644 index 000000000..a59a78703 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_7_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "spinocerebellar_ataxia,_autosomal_recessive_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002317", + "label": "Unsteady gait" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0002168", + "label": "Scanning speech" + } + }, + { + "type": { + "id": "HP:0001310", + "label": "Dysmetria" + } + }, + { + "type": { + "id": "HP:0002495", + "label": "Impaired vibratory sensation" + } + }, + { + "type": { + "id": "HP:0000651", + "label": "Diplopia" + } + }, 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_8_patient_1.json new file mode 100644 index 000000000..8bb1fe8e5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_8_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "spinocerebellar_ataxia,_autosomal_recessive_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002808", + "label": "Kyphosis" + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0002070", + "label": "Limb ataxia" + } + }, + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + }, + { + "type": { + "id": 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+ }, + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607250", + "label": "Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:33:43.764970Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_with_axonal_neuropathy_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_with_axonal_neuropathy_3_patient_1.json new file mode 100644 index 000000000..1c6a394dc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_autosomal_recessive_with_axonal_neuropathy_3_patient_1.json @@ -0,0 +1,134 @@ +{ + "id": "spinocerebellar_ataxia,_autosomal_recessive,_with_axonal_neuropathy_3", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P9Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011402", + "label": "Demyelinating sensory neuropathy" + } + }, + { + "type": { + "id": "HP:0003690", + "label": "Limb muscle weakness" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_with_rigidity_and_peripheral_neuropathy_patient_1.json new file mode 100644 index 000000000..4d631a97a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_ataxia_with_rigidity_and_peripheral_neuropathy_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "spinocerebellar_ataxia_with_rigidity_and_peripheral_neuropathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" + } + }, + { + "type": { + "id": "HP:0000762", + "label": "Decreased nerve conduction velocity" + } + }, + { + "type": { + "id": "HP:0002380", + "label": "Fasciculations" + } + }, + { + "type": { + "id": "HP:0001271", + "label": "Polyneuropathy" + } + }, + { + "type": { + "id": "HP:0001260", + "label": "Dysarthria" + } + } + ], + "diseases": [ + { + "term": { + 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file mode 100644 index 000000000..2718cc461 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_atrophy_with_pupillary_paralysis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spinocerebellar_atrophy_with_pupillary_paralysis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007263", + "label": "Spinocerebellar atrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:183100", + "label": "Spinocerebellar atrophy with pupillary paralysis" + } + } + ], + "metaData": { + "created": "2024-06-11T22:03:28.551834Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_degeneration_and_corneal_dystrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_degeneration_and_corneal_dystrophy_patient_1.json new file mode 100644 index 000000000..7e6c01ca5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_degeneration_and_corneal_dystrophy_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spinocerebellar_degeneration_and_corneal_dystrophy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001131", + "label": "Corneal dystrophy" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0002503", + "label": "Spinocerebellar tract degeneration" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:271310", + "label": "Spinocerebellar degeneration and corneal dystrophy" + } + } + ], + "metaData": { + "created": "2024-06-11T22:25:04.055656Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_degeneration_with_macular_corneal_dystrophy_congenitalcataracts_and_myopia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_degeneration_with_macular_corneal_dystrophy_congenitalcataracts_and_myopia_patient_1.json new file mode 100644 index 000000000..32c4c33e1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spinocerebellar_degeneration_with_macular_corneal_dystrophy_congenitalcataracts_and_myopia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spinocerebellar_degeneration_with_macular_corneal_dystrophy,_congenitalcataracts,_and_myopia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001131", + "label": "Corneal dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:271320", + "label": "Spinocerebellar degeneration with macular corneal dystrophy, congenitalcataracts, and myopia" + } + } + ], + "metaData": { + "created": "2024-06-11T19:33:14.583617Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Splenogonadal_fusion_with_limb_defects_and_micrognathia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Splenogonadal_fusion_with_limb_defects_and_micrognathia_patient_1.json new file mode 100644 index 000000000..1ccb2425e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Splenogonadal_fusion_with_limb_defects_and_micrognathia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "splenogonadal_fusion_with_limb_defects_and_micrognathia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006333", + "label": "Crowded maxillary incisors" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:183300", + "label": "Splenogonadal fusion with limb defects and micrognathia" + } + } + ], + "metaData": { + "created": "2024-06-11T22:23:05.549602Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Splenomegaly_cytopenia_and_vision_loss_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Splenomegaly_cytopenia_and_vision_loss_patient_1.json new file mode 100644 index 000000000..8b1b2d1ef --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Splenomegaly_cytopenia_and_vision_loss_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "splenomegaly,_cytopenia,_and_vision_loss", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000970", + "label": "Anhidrosis" + } + }, + { + "type": { + "id": "HP:0001025", + "label": "Urticaria" + } + }, + { + "type": { + "id": "HP:0002076", + "label": "Migraine" + } + }, + { + "type": { + "id": "HP:0001876", + "label": "Pancytopenia" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0001744", + "label": "Splenomegaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614979", + "label": "Splenomegaly, cytopenia, and vision loss" + } + } + ], + "metaData": { + "created": "2024-06-11T20:51:39.548913Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Splenoportal_vascular_anomalies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Splenoportal_vascular_anomalies_patient_1.json new file mode 100644 index 000000000..8d9027ae9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Splenoportal_vascular_anomalies_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "splenoportal_vascular_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001395", + "label": "Hepatic fibrosis" + } + }, + { + "type": { + "id": "HP:0000819", + "label": "Diabetes mellitus" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0001413", + "label": "Micronodular cirrhosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:271500", + "label": "Splenoportal vascular anomalies" + } + } + ], + "metaData": { + "created": "2024-06-11T22:14:30.063227Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Foot_deformity_with_mandibulofacial_dysostosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Foot_deformity_with_mandibulofacial_dysostosis_patient_1.json new file mode 100644 index 000000000..4bf9cec0e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Foot_deformity_with_mandibulofacial_dysostosis_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "split-foot_deformity_with_mandibulofacial_dysostosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001839", + "label": "Split foot" + } + }, + { + "type": { + "id": "HP:0005922", + "label": "Abnormal hand morphology" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:183700", + "label": "Split-Foot deformity with mandibulofacial dysostosis" + } + } + ], + "metaData": { + "created": "2024-06-11T21:25:47.084576Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Foot_malformation_with_mesoaxial_polydactyly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Foot_malformation_with_mesoaxial_polydactyly_patient_1.json new file mode 100644 index 000000000..60ae27cf1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Foot_malformation_with_mesoaxial_polydactyly_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "split-foot_malformation_with_mesoaxial_polydactyly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001839", + "label": "Split foot" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0001171", + "label": "Split hand" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616890", + "label": "Split-Foot malformation with mesoaxial polydactyly" + } + } + ], + "metaData": { + "created": "2024-06-11T17:58:02.612753Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_and_split_foot_with_hypodontia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_and_split_foot_with_hypodontia_patient_1.json new file mode 100644 index 000000000..a284feb59 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_and_split_foot_with_hypodontia_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "split-hand_and_split-foot_with_hypodontia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001839", + "label": "Split foot" + } + }, + { + "type": { + "id": "HP:0005922", + "label": "Abnormal hand morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:183500", + "label": "Split-Hand and split-foot with hypodontia" + } + } + ], + "metaData": { + "created": "2024-06-11T21:29:49.322750Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_foot_malformation_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_foot_malformation_1_patient_1.json new file mode 100644 index 000000000..ca90904a2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_foot_malformation_1_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "split-hand/foot_malformation_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0030084", + "label": "Clinodactyly" + } + }, + { + "type": { + "id": "HP:0010055", + "label": "Broad hallux" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:183600", + "label": "Split-Hand/foot malformation 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:21:03.383477Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_foot_malformation_1_with_sensorineural_hearing_loss_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_foot_malformation_1_with_sensorineural_hearing_loss_patient_1.json new file mode 100644 index 000000000..e6958967a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_foot_malformation_1_with_sensorineural_hearing_loss_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "split-hand/foot_malformation_1_with_sensorineural_hearing_loss", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0011844", + "label": "Abnormal appendicular skeleton morphology" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:220600", + "label": "Split-Hand/foot malformation 1 with sensorineural hearing loss" + } + } + ], + "metaData": { + "created": "2024-06-11T21:12:01.010939Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_foot_malformation_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_foot_malformation_2_patient_1.json new file mode 100644 index 000000000..4353c82b2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_foot_malformation_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "split-hand/foot_malformation_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006011", + "label": "Cuboidal metacarpal" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:313350", + "label": "Split-Hand/foot malformation 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:17:51.781737Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_foot_malformation_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_foot_malformation_3_patient_1.json new file mode 100644 index 000000000..3fbacc94c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_foot_malformation_3_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "split-hand/foot_malformation_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0008404", + "label": "Nail dystrophy" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:246560", + "label": "Split-Hand/foot malformation 3" + } + } + ], + "metaData": { + "created": "2024-06-11T20:27:27.502040Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_foot_malformation_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_foot_malformation_4_patient_1.json new file mode 100644 index 000000000..a7c6072ca --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_foot_malformation_4_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "split-hand/foot_malformation_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010437", + "label": "Short proximal phalanx of the 2nd toe" + } + }, + { + "type": { + "id": "HP:0001199", + "label": "Triphalangeal thumb" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0005922", + "label": "Abnormal hand morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605289", + "label": "Split-Hand/foot malformation 4" + } + } + ], + "metaData": { + "created": "2024-06-11T22:22:04.428697Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_foot_malformation_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_foot_malformation_6_patient_1.json new file mode 100644 index 000000000..7c32e758b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_foot_malformation_6_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "split-hand/foot_malformation_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001770", + "label": "Toe syndactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:225300", + "label": "Split-Hand/foot malformation 6" + } + } + ], + "metaData": { + "created": "2024-06-11T18:27:29.151353Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_foot_malformation_with_long_bone_deficiency_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_foot_malformation_with_long_bone_deficiency_1_patient_1.json new file mode 100644 index 000000000..9e6d1edb1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_foot_malformation_with_long_bone_deficiency_1_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "split-hand/foot_malformation_with_long_bone_deficiency_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006443", + "label": "Patellar aplasia" + } + }, + { + "type": { + "id": "HP:0004058", + "label": "Hand monodactyly" + } + }, + { + "type": { + "id": "HP:0040069", + "label": "Abnormal lower limb bone morphology" + } + }, + { + "type": { + "id": "HP:0002973", + "label": "Abnormal forearm morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:119100", + "label": "Split-Hand/foot malformation with long bone deficiency 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:30:09.421247Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_with_congenital_nystagmus_fundal_changes_and_cataracts_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_with_congenital_nystagmus_fundal_changes_and_cataracts_patient_1.json new file mode 100644 index 000000000..475c8a3f2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_Hand_with_congenital_nystagmus_fundal_changes_and_cataracts_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "split-hand_with_congenital_nystagmus,_fundal_changes,_and_cataracts", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0025711", + "label": "Convergence-retraction nystagmus" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:183800", + "label": "Split-Hand with congenital nystagmus, fundal changes, and cataracts" + } + } + ], + "metaData": { + "created": "2024-06-11T19:13:00.924449Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_lower_lip_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_lower_lip_patient_1.json new file mode 100644 index 000000000..0ccfa3b29 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Split_lower_lip_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "split_lower_lip", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000164", + "label": "Abnormality of the dentition" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:183400", + "label": "Split lower lip" + } + } + ], + "metaData": { + "created": "2024-06-11T22:47:13.449417Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylo_megaepiphyseal_metaphyseal_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylo_megaepiphyseal_metaphyseal_dysplasia_patient_1.json new file mode 100644 index 000000000..d21ff75ac --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylo_megaepiphyseal_metaphyseal_dysplasia_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "spondylo-megaepiphyseal-metaphyseal_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000256", + "label": "Macrocephaly" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0008788", + "label": "Delayed pubic bone ossification" + } + }, + { + "type": { + "id": "HP:0004288", + "label": "Pseudoepiphyses of hand bones" + } + }, + { + "type": { + "id": "HP:0002970", + "label": "Genu varum" + } + }, + { + "type": { + "id": "HP:0000238", + "label": "Hydrocephalus" + } + }, + { + "type": { + "id": "HP:0010862", + "label": "Delayed fine motor development" + } + }, + { + "type": { + "id": "HP:0003418", + "label": "Back pain" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613330", + "label": "Spondylo-megaepiphyseal-metaphyseal dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T19:00:09.970218Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloarthropathy_susceptibility_to_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloarthropathy_susceptibility_to_1_patient_1.json new file mode 100644 index 000000000..280de0a80 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloarthropathy_susceptibility_to_1_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spondyloarthropathy,_susceptibility_to,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100686", + "label": "Enthesitis" + } + }, + { + "type": { + "id": "HP:0008843", + "label": "Hip osteoarthritis" + } + }, + { + "type": { + "id": "HP:0040313", + "label": "Oligoarthritis" + } + }, + { + "type": { + "id": "HP:0012647", + "label": "Abnormal inflammatory response" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:106300", + "label": "Spondyloarthropathy, susceptibility to, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:22:14.121805Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloarthropathy_susceptibility_to_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloarthropathy_susceptibility_to_2_patient_1.json new file mode 100644 index 000000000..6a4e2bc21 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloarthropathy_susceptibility_to_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "spondyloarthropathy,_susceptibility_to,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001939", + "label": "Abnormality of metabolism/homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:183840", + "label": "Spondyloarthropathy, susceptibility to, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:01:05.541972Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylocarpotarsal_synostosis_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylocarpotarsal_synostosis_syndrome_patient_1.json new file mode 100644 index 000000000..3137bd75d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylocarpotarsal_synostosis_syndrome_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "spondylocarpotarsal_synostosis_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000410", + "label": "Mixed hearing impairment" + } + }, + { + "type": { + "id": "HP:0000107", + "label": "Renal cyst" + } + }, + { + "type": { + "id": "HP:0009702", + "label": "Carpal synostosis" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0000283", + "label": "Broad face" + } + }, + { + "type": { + "id": "HP:0000768", + "label": "Pectus carinatum" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0004209", + "label": "Clinodactyly of the 5th finger" + } + }, + { + "type": { + "id": "HP:0003196", + "label": "Short nose" + } + }, + { + "type": { + "id": "HP:0001241", + "label": "Capitate-hamate fusion" + } + }, + { + "type": { + "id": "HP:0003307", + "label": "Hyperlordosis" + } + }, + { + "type": { + "id": "HP:0000682", + "label": "Abnormal dental enamel morphology" + } + }, + { + "type": { + "id": "HP:0003365", + "label": "Arthralgia of the hip" + } + }, + { + "type": { + "id": "HP:0000023", + "label": "Inguinal hernia" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:272460", + "label": "Spondylocarpotarsal synostosis syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T17:49:50.211276Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylocostal_dysostosis_2_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylocostal_dysostosis_2_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..6c66f1c46 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylocostal_dysostosis_2_autosomal_recessive_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spondylocostal_dysostosis_2,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002205", + "label": "Recurrent respiratory infections" + } + }, + { + "type": { + "id": "HP:0000772", + "label": "Abnormal rib morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608681", + "label": "Spondylocostal dysostosis 2, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T23:21:35.581752Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylocostal_dysostosis_3_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylocostal_dysostosis_3_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..6a523e889 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylocostal_dysostosis_3_autosomal_recessive_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "spondylocostal_dysostosis_3,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000902", + "label": "Rib fusion" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609813", + "label": "Spondylocostal dysostosis 3, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T18:06:59.175449Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylocostal_dysostosis_4_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylocostal_dysostosis_4_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..f0a7a6d2c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylocostal_dysostosis_4_autosomal_recessive_patient_1.json @@ -0,0 +1,165 @@ +{ + "id": "spondylocostal_dysostosis_4,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030322", + "label": "Vertebral artery hypoplasia" + } + }, + { + "type": { + "id": "HP:0034237", + "label": "Open neural tube defect" + } + }, + { + "type": { + "id": "HP:0004619", + "label": "Lumbar kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0000011", + "label": "Neurogenic bladder" + } + }, + { + "type": { + "id": "HP:0001591", + "label": "Bell-shaped thorax" + } + }, + { + "type": { + "id": "HP:0009121", + "label": "Abnormal axial skeleton morphology" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0034197", + "label": "Third trimester onset" + } + } + }, + { + "type": { + "id": "HP:0011283", + "label": "Abnormal metencephalon morphology" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:0032356", + "label": "Decreased pre-bronchodilator forced vital capacity" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0001545", + "label": "Anteriorly placed anus" + } + }, + { + "type": { + "id": "HP:0008848", + "label": "Moderately short stature" + } + }, + { + "type": { + "id": "HP:0025668", + "label": "Abnormal neck morphology" + } + }, + { + "type": { + "id": "HP:0005626", + "label": "Posterior fusion of lumbosacral vertebrae" + } + }, + { + "type": { + "id": "HP:0008467", + "label": "Thoracic hemivertebrae" + } + }, + { + "type": { + "id": 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"OMIM:122600", + "label": "Spondylocostal dysostosis 5" + } + } + ], + "metaData": { + "created": "2024-06-11T17:44:36.795370Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylocostal_dysostosis_6_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylocostal_dysostosis_6_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..c38cc9aef --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylocostal_dysostosis_6_autosomal_recessive_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spondylocostal_dysostosis_6,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616566", + "label": "Spondylocostal dysostosis 6, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T20:18:41.265646Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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"namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylocostal_dysostosis_with_anal_atresia_and_urogenital_anomalies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylocostal_dysostosis_with_anal_atresia_and_urogenital_anomalies_patient_1.json new file mode 100644 index 000000000..4a8d368d1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylocostal_dysostosis_with_anal_atresia_and_urogenital_anomalies_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "spondylocostal_dysostosis_with_anal_atresia_and_urogenital_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003305", + "label": "Block vertebrae" + } + }, + { + "type": { + "id": "HP:0002089", + "label": "Pulmonary hypoplasia" + } + }, + { + "type": { + "id": "HP:0000042", + "label": "Absent external genitalia" + } + }, + { + "type": { + "id": "HP:0000068", + "label": "Urethral atresia" + } + }, + { + "type": { + "id": "HP:0030799", + "label": "Scaphocephaly" + } + }, + { + "type": { + "id": "HP:0012674", + "label": "Aplasia of the lower vagina" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0009121", + "label": "Abnormal axial skeleton morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:271520", + "label": "Spondylocostal dysostosis with anal atresia and urogenital anomalies" + } + } + ], + "metaData": { + "created": "2024-06-11T20:13:06.459768Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + 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"spondyloenchondrodysplasia_with_immune_dysregulation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002960", + "label": "Autoimmunity" + } + }, + { + "type": { + "id": "HP:0001370", + "label": "Rheumatoid arthritis" + } + }, + { + "type": { + "id": "HP:0004979", + "label": "Metaphyseal sclerosis" + } + }, + { + "type": { + "id": "HP:0000979", + "label": "Purpura" + } + }, + { + "type": { + "id": "HP:0002938", + "label": "Lumbar hyperlordosis" + } + }, + { + "type": { + "id": "HP:0002958", + "label": "Immune dysregulation" + } + }, + { + "type": { + "id": "HP:0000460", + "label": "Narrow nose" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0004018", + "label": "Flared radial metaphysis" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0002733", + "label": "Abnormal 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"http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Aggrecan_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Aggrecan_type_patient_1.json new file mode 100644 index 000000000..365a6986f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Aggrecan_type_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "spondyloepimetaphyseal_dysplasia,_aggrecan_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002938", + "label": "Lumbar hyperlordosis" + } + }, + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0001615", + "label": "Hoarse cry" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612813", + "label": "Spondyloepimetaphyseal dysplasia, Aggrecan type" + } + } + ], + "metaData": { + "created": "2024-06-12T02:15:26.413721Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Borochowitz_Cormier_Daire_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Borochowitz_Cormier_Daire_type_patient_1.json new file mode 100644 index 000000000..a8b2964c0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Borochowitz_Cormier_Daire_type_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "spondyloepimetaphyseal_dysplasia,_borochowitz-cormier-daire_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008873", + "label": "Disproportionate short-limb short stature" + } + }, + { + "type": { + "id": "HP:0010585", + "label": "Small epiphyses" + } + }, + { + "type": { + "id": "HP:0002938", + "label": "Lumbar hyperlordosis" + } + }, + { + "type": { + "id": "HP:0000922", + "label": "Posterior rib cupping" + } + }, + { + "type": { + "id": "HP:0002983", + "label": "Micromelia" + } + }, + { + "type": { + "id": "HP:0002979", + "label": "Bowing of the legs" + } + }, + { + "type": { + "id": "HP:0003300", + "label": "Ovoid vertebral bodies" + } + }, + { + "type": { + "id": "HP:0003375", + "label": "Narrow greater sciatic notch" + } + }, + { + "type": { + "id": "HP:0000926", + "label": "Platyspondyly" + } + }, + { + "type": { + "id": "HP:0003180", + "label": "Flat acetabular roof" + } + }, + { + "type": { + "id": "HP:0003016", + "label": "Metaphyseal widening" + } + }, + { + "type": { + "id": "HP:0002651", + "label": "Spondyloepimetaphyseal dysplasia" + } + }, + { + "type": { + "id": "HP:0008794", + "label": "Dysplastic iliac wing" + } + }, + { + "type": { + "id": "HP:0002515", + "label": "Waddling gait" + } + }, + { + "type": { + "id": "HP:0003097", + "label": "Short femur" + } + }, + { + "type": { + "id": "HP:0000915", + "label": "Pectus excavatum of inferior sternum" + } + }, + { + "type": { + "id": "HP:0006456", + "label": "Irregular proximal tibial epiphyses" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608728", + "label": "Spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type" + } + } + ], + "metaData": { + "created": "2024-06-11T18:05:35.651173Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Camera_Genevieve_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Camera_Genevieve_type_patient_1.json new file mode 100644 index 000000000..019ca5cb5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Camera_Genevieve_type_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "spondyloepimetaphyseal_dysplasia,_camera-genevieve_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003015", + "label": "Flared metaphysis" + } + }, + { + "type": { + "id": "HP:0000294", + "label": "Low anterior hairline" + } + }, + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0001498", + "label": "Carpal bone hypoplasia" + } + }, + { + "type": { + "id": "HP:0001007", + "label": "Hirsutism" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0006892", + "label": "Frontotemporal cerebral atrophy" + } + }, + { + "type": { + "id": "HP:0002651", + "label": "Spondyloepimetaphyseal dysplasia" + } + }, + { + "type": { + "id": "HP:0008476", + "label": "Irregular sclerotic endplates" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610442", + "label": "Spondyloepimetaphyseal dysplasia, Camera-Genevieve type" + } + } + ], + "metaData": { + "created": "2024-06-11T21:49:31.092869Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_DI_Rocco_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_DI_Rocco_type_patient_1.json new file mode 100644 index 000000000..784c281de --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_DI_Rocco_type_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spondyloepimetaphyseal_dysplasia,_di_rocco_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100255", + "label": "Metaphyseal dysplasia" + } + }, + { + "type": { + "id": "HP:0002750", + "label": "Delayed skeletal maturation" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0100531", + "label": "Wind-swept deformity of the knees" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617974", + "label": "Spondyloepimetaphyseal dysplasia, DI Rocco type" + } + } + ], + "metaData": { + "created": "2024-06-11T18:40:25.741921Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Faden_Alkuraya_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Faden_Alkuraya_type_patient_1.json new file mode 100644 index 000000000..a88f5fb2a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Faden_Alkuraya_type_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "spondyloepimetaphyseal_dysplasia,_faden-alkuraya_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003275", + "label": "Narrow pelvis bone" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": 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100644 index 000000000..fb12dc69d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Guo_Campeau_type_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "spondyloepimetaphyseal_dysplasia,_guo-campeau_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009826", + "label": "Limb undergrowth" + } + }, + { + "type": { + "id": "HP:0001763", + "label": "Pes planus" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0040024", + "label": "Clinodactyly of the 3rd finger" + } + }, + { + "type": { + "id": "HP:0001611", + "label": "Hypernasal speech" + } + }, + { + "type": { + "id": "HP:0004279", + "label": "Short palm" + } + }, + { + "type": { + "id": "HP:0000768", + "label": "Pectus carinatum" + } + }, + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0000243", + "label": "Trigonocephaly" + } + }, + { + "type": { + "id": "HP:0009487", + "label": "Ulnar deviation of the hand" + } + }, + { + "type": { + "id": "HP:0001159", + "label": "Syndactyly" + } + }, + { + "type": { + "id": "HP:0000358", + "label": "Posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620663", + "label": "Spondyloepimetaphyseal dysplasia, Guo-Campeau type" + } + } + ], + "metaData": { + "created": "2024-06-11T18:15:05.848796Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Irapa_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Irapa_type_patient_1.json new file mode 100644 index 000000000..47b819d38 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Irapa_type_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "spondyloepimetaphyseal_dysplasia,_irapa_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002812", + "label": "Coxa vara" + } + }, + { + "type": { + "id": "HP:0001169", + "label": "Broad palm" + } + }, + { + "type": { + "id": "HP:0004279", + "label": "Short palm" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0002651", + "label": "Spondyloepimetaphyseal dysplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:271650", + "label": "Spondyloepimetaphyseal dysplasia, Irapa type" + } + } + ], + "metaData": { + "created": "2024-06-11T19:29:56.379633Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Isidor_Toutain_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Isidor_Toutain_type_patient_1.json new file mode 100644 index 000000000..1408655ea --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Isidor_Toutain_type_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "spondyloepimetaphyseal_dysplasia,_isidor-toutain_type", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003026", + "label": "Short long bone" + } + }, + { + "type": { + "id": "HP:0003510", + "label": "Severe short stature" + } + }, + { + "type": { + "id": "HP:0005041", + "label": "Irregular capital femoral epiphysis" + } + }, + { + "type": { + "id": "HP:0000940", + "label": "Abnormal diaphysis morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618728", + "label": "Spondyloepimetaphyseal dysplasia, Isidor-Toutain type" + } + } + ], + "metaData": { + "created": "2024-06-11T19:21:13.930568Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Krakow_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Krakow_type_patient_1.json new file mode 100644 index 000000000..ccacc0e25 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Krakow_type_patient_1.json @@ -0,0 +1,182 @@ +{ + "id": "spondyloepimetaphyseal_dysplasia,_krakow_type", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003025", + "label": "Metaphyseal irregularity" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0011123", + "label": "Inflammatory abnormality of the skin" + } + }, + { + "type": { + "id": "HP:0009121", + "label": "Abnormal axial skeleton morphology" + } + }, + { + "type": { + "id": "HP:0002721", + "label": "Immunodeficiency" + } + }, + { + "type": { + "id": "HP:0012106", + "label": "Rhizomelic leg shortening" + } + }, + { + "type": { + "id": "HP:0005477", + "label": "Progressive sclerosis of skull base" + } + }, + { + "type": { + "id": "HP:0011844", + "label": "Abnormal appendicular skeleton morphology" + } + }, + { + "type": { + "id": "HP:0033353", + "label": "Abnormal blood vessel morphology" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0002705", + "label": "High, narrow palate" + } + }, + { + "type": { + "id": "HP:0004004", + "label": "Irregular radial epiphyses" + } + }, + { + "type": { + "id": "HP:0003086", + "label": "Acromesomelia" + } + }, + { + "type": { + "id": "HP:0034671", + "label": "Knee contracture" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0011297", + "label": "Abnormal digit morphology" + } + }, + { + "type": { + "id": "HP:0034392", + "label": "Joint contracture" + } + }, + { + "type": { + "id": "HP:0003193", + "label": "Allergic rhinitis" + } + }, + { + "type": { + "id": "HP:0004691", + "label": "2-3 toe syndactyly" + } + }, + { + "type": { + "id": "HP:0007099", + "label": "Chiari type I malformation" + } + }, + { + "type": { + "id": "HP:0030353", + "label": "Decreased serum insulin-like growth factor 1" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618162", + "label": "Spondyloepimetaphyseal dysplasia, Krakow type" + } + } + ], + "metaData": { + "created": "2024-06-11T19:57:44.912341Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Missouri_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Missouri_type_patient_1.json new file mode 100644 index 000000000..ce5b6f484 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Missouri_type_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "spondyloepimetaphyseal_dysplasia,_missouri_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002869", + "label": "Flared iliac wing" + } + }, + { + "type": { + "id": "HP:0002750", + "label": "Delayed skeletal maturation" + } + }, + { + "type": { + "id": "HP:0002986", + "label": "Radial bowing" + } + }, + { + "type": { + "id": "HP:0003031", + "label": "Ulnar bowing" + } + }, + { + "type": { + "id": "HP:0008476", + "label": "Irregular sclerotic endplates" + } + }, + { + "type": { + "id": "HP:0003015", + "label": "Flared metaphysis" + } + }, + { + "type": { + "id": "HP:0008905", + "label": "Rhizomelia" + } + }, + { + "type": { + "id": "HP:0002982", + "label": "Tibial bowing" + } + }, + { + "type": { + "id": "HP:0003071", + "label": "Flattened epiphysis" + } + }, + { + "type": { + "id": "HP:0003021", + "label": "Metaphyseal cupping" + } + }, + { + "type": { + "id": "HP:0006603", + "label": "Flared, irregular rib ends" + } + }, + { + "type": { + "id": "HP:0004010", + "label": "Small radial epiphyses" + } + }, + { + "type": { + "id": "HP:0004566", + "label": "Pear-shaped vertebrae" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602111", + "label": "Spondyloepimetaphyseal dysplasia, Missouri type" + } + } + ], + "metaData": { + "created": "2024-06-11T19:32:05.129927Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Shohat_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Shohat_type_patient_1.json new file mode 100644 index 000000000..d99a5e63e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Shohat_type_patient_1.json @@ -0,0 +1,86 @@ +{ + "id": "spondyloepimetaphyseal_dysplasia,_shohat_type", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001609", + "label": "Hoarse voice" + } + }, + { + "type": { + "id": "HP:0008417", + "label": "Vertebral hypoplasia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0002651", + "label": "Spondyloepimetaphyseal dysplasia" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0001438", + "label": "Abnormal abdomen morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602557", + "label": "Spondyloepimetaphyseal dysplasia, Shohat type" + } + } + ], + "metaData": { + "created": "2024-06-11T22:45:07.787042Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Strudwick_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Strudwick_type_patient_1.json new file mode 100644 index 000000000..dba6f0a09 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_Strudwick_type_patient_1.json @@ -0,0 +1,147 @@ +{ + "id": "spondyloepimetaphyseal_dysplasia,_strudwick_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003311", + "label": "Hypoplasia of the odontoid process" + } + }, + { + "type": { + "id": "HP:0001763", + "label": "Pes planus" + } + }, + { + "type": { + "id": "HP:0003375", + "label": "Narrow greater sciatic notch" + } + }, + { + "type": { + "id": "HP:0000907", + "label": "Anterior rib cupping" + } + }, + { + "type": { + "id": "HP:0011860", + "label": "Metaphyseal dappling" + } + }, + { + "type": { + "id": "HP:0008873", + "label": "Disproportionate short-limb short stature" + } + }, + { + "type": { + "id": "HP:0003025", + "label": "Metaphyseal irregularity" + } + }, + { + "type": { + "id": "HP:0002812", + "label": "Coxa vara" + } + }, + { + "type": { + "id": "HP:0003320", + "label": "C1-C2 subluxation" + } + }, + { + "type": { + "id": "HP:0006406", + "label": "Club-shaped proximal femur" + } + }, + { + "type": { + "id": "HP:0003173", + "label": "Hypoplastic pubic bone" + } + }, + { + "type": { + "id": "HP:0003307", + "label": "Hyperlordosis" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0006008", + "label": "Unilateral brachydactyly" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0040019", + "label": "Finger clinodactyly" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0100531", + "label": "Wind-swept deformity of the knees" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:184250", + "label": "Spondyloepimetaphyseal dysplasia, Strudwick type" + } + } + ], + "metaData": { + "created": "2024-06-11T21:06:10.576398Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_X_linked_patient_1.json new file mode 100644 index 000000000..3c9ccc2fe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_X_linked_patient_1.json @@ -0,0 +1,237 @@ +{ + "id": "spondyloepimetaphyseal_dysplasia,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006009", + "label": "Broad phalanx" + } + }, + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + } + }, + { + "type": { + "id": "HP:0003311", + "label": "Hypoplasia of the odontoid process" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0002970", + "label": "Genu varum" + } + }, + { + "type": { + "id": "HP:0002515", + "label": "Waddling gait" + } + }, + { + "type": { + "id": "HP:0000926", + "label": "Platyspondyly" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0002938", + "label": "Lumbar hyperlordosis" + } + }, + { + "type": { + "id": "HP:0000768", + "label": "Pectus carinatum" + } + }, + { + "type": { + "id": "HP:0001773", + "label": "Short foot" + } + }, + { + "type": { + "id": "HP:0001216", + "label": "Delayed ossification of carpal bones" + } + }, + { + "type": { + "id": "HP:0002673", + "label": "Coxa valga" + } + }, + { + "type": { + "id": "HP:0003180", + "label": "Flat acetabular roof" + } + }, + { + "type": { + "id": "HP:0003025", + "label": "Metaphyseal irregularity" + } + }, + { + "type": { + "id": "HP:0009486", + "label": "Radial deviation of the hand" + } + }, + { + "type": { + "id": "HP:0006059", + "label": "Cone-shaped metacarpal epiphyses" + } + }, + { + "type": { + "id": "HP:0003521", + "label": "Disproportionate short-trunk short stature" + } + }, + { + "type": { + "id": "HP:0000894", + "label": "Short clavicles" + } + }, + { + "type": { + "id": "HP:0011940", + "label": "Anterior wedging of T12" + } + }, + { + "type": { + "id": "HP:0001230", + "label": "Broad metacarpals" + } + }, + { + "type": { + "id": "HP:0001377", + "label": "Limited elbow extension" + } + }, + { + "type": { + "id": "HP:0004279", + "label": "Short palm" + } + }, + { + "type": { + "id": "HP:0000327", + "label": "Hypoplasia of the maxilla" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0004000", + "label": "Cone-shaped distal radial epiphysis" + } + }, + { + "type": { + "id": "HP:0005066", + "label": "Cone-shaped epiphyses fused within their metaphyses" + } + }, + { + "type": { + "id": "HP:0009803", + "label": "Short phalanx of finger" + } + }, + { + "type": { + "id": "HP:0004981", + "label": "Prominent styloid process of ulna" + } + }, + { + "type": { + "id": "HP:0002947", + "label": "Cervical kyphosis" + } + }, + { + "type": { + "id": "HP:0011844", + "label": "Abnormal appendicular skeleton morphology" + } + }, + { + "type": { + "id": "HP:0002651", + "label": "Spondyloepimetaphyseal dysplasia" + } + }, + { + "type": { + "id": "HP:0011314", + "label": "Abnormal long bone morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300106", + "label": "Spondyloepimetaphyseal dysplasia, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T22:22:17.871393Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_X_linked_with_mental_deterioration_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_X_linked_with_mental_deterioration_patient_1.json new file mode 100644 index 000000000..9133853ab --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_X_linked_with_mental_deterioration_patient_1.json @@ -0,0 +1,182 @@ +{ + "id": "spondyloepimetaphyseal_dysplasia,_x-linked,_with_mental_deterioration", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P3Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0002942", + "label": "Thoracic kyphosis" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0000543", + "label": "Optic disc pallor" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0006423", + "label": "Peg-like central prominence of distal tibial metaphyses" + } + }, + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + } + }, + { + "type": { + "id": "HP:0002188", + "label": "Delayed CNS myelination" + } + }, + { + "type": { + "id": "HP:0001769", + "label": "Broad foot" + } + }, + { + "type": { + "id": "HP:0000907", + "label": "Anterior rib cupping" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0034332", + "label": "Cognitive regression" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0008909", + "label": "Lethal short-limbed short stature" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:0001285", + "label": "Spastic tetraparesis" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0001169", + "label": "Broad palm" + } + }, + { + "type": { + "id": "HP:0008453", + "label": "Congenital kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0009055", + "label": "Generalized limb muscle atrophy" + }, + "modifiers": [ + { + "id": "HP:0003676", + "label": "Progressive" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300232", + "label": "Spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration" + } + } + ], + "metaData": { + "created": "2024-06-11T19:10:16.850775Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_sponastrime_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_sponastrime_type_patient_1.json new file mode 100644 index 000000000..598493959 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_sponastrime_type_patient_1.json @@ -0,0 +1,159 @@ +{ + "id": "spondyloepimetaphyseal_dysplasia,_sponastrime_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006336", + "label": "Short dental root" + } + }, + { + "type": { + "id": "HP:0000523", + "label": "Subcapsular cataract" + } + }, + { + "type": { + "id": "HP:0002938", + "label": "Lumbar hyperlordosis" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": 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"hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_with_joint_laxity_type_1_with_or_without_fractures_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_with_joint_laxity_type_1_with_or_without_fractures_patient_1.json new file mode 100644 index 000000000..47fab092c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_with_joint_laxity_type_1_with_or_without_fractures_patient_1.json @@ -0,0 +1,140 @@ +{ + "id": "spondyloepimetaphyseal_dysplasia_with_joint_laxity,_type_1,_with_or_without_fractures", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P4Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": 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"HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0000300", + "label": "Oval face" + } + }, + { + "type": { + "id": "HP:0000878", + "label": "11 pairs of ribs" + } + }, + { + "type": { + "id": "HP:0002869", + "label": "Flared iliac wing" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:271640", + "label": "Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures" + } + } + ], + "metaData": { + "created": "2024-06-11T20:56:41.012084Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_with_joint_laxity_type_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_with_joint_laxity_type_2_patient_1.json new file mode 100644 index 000000000..9e84221d6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepimetaphyseal_dysplasia_with_joint_laxity_type_2_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "spondyloepimetaphyseal_dysplasia_with_joint_laxity,_type_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002651", + "label": "Spondyloepimetaphyseal dysplasia" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0012297", + "label": "Slender proximal phalanx of finger" + } + }, + { + "type": { + "id": "HP:0001374", + "label": "Congenital hip dislocation" + } + }, + { + "type": { + "id": "HP:0006127", + "label": "Long proximal phalanx of finger" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0003083", + "label": "Dislocated radial head" + } + }, + { + "type": { + "id": "HP:0003370", + "label": "Flat capital femoral epiphysis" + } + }, + { + "type": { + "id": "HP:0011314", + "label": "Abnormal long bone morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603546", + "label": "Spondyloepimetaphyseal dysplasia with joint laxity, type 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:31:14.074420Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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laxity, type 3" + } + } + ], + "metaData": { + "created": "2024-06-11T21:10:48.983815Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_Kimberley_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_Kimberley_type_patient_1.json new file mode 100644 index 000000000..7a1f87c46 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_Kimberley_type_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spondyloepiphyseal_dysplasia,_kimberley_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003508", + "label": "Proportionate short stature" + } + }, + { + "type": { + "id": "HP:0000926", + "label": "Platyspondyly" + } + }, + { + "type": { + "id": "HP:0002970", + "label": "Genu varum" + } + }, + { + "type": { + "id": "HP:0002750", + "label": "Delayed skeletal maturation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608361", + "label": "Spondyloepiphyseal dysplasia, Kimberley type" + } + } + ], + "metaData": { + "created": "2024-06-11T20:30:24.713904Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_Kondo_Fu_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_Kondo_Fu_type_patient_1.json new file mode 100644 index 000000000..afad15d0f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_Kondo_Fu_type_patient_1.json @@ -0,0 +1,104 @@ +{ + "id": "spondyloepiphyseal_dysplasia,_kondo-fu_type", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": 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"createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_Maroteaux_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_Maroteaux_type_patient_1.json new file mode 100644 index 000000000..0b1e9644a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_Maroteaux_type_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "spondyloepiphyseal_dysplasia,_maroteaux_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000926", + "label": "Platyspondyly" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0100864", + "label": "Short femoral neck" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0000917", + "label": "Superior pectus carinatum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:184095", + "label": "Spondyloepiphyseal dysplasia, Maroteaux type" + } + } + ], + "metaData": { + "created": "2024-06-11T22:38:23.548639Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_Nishimura_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_Nishimura_type_patient_1.json new file mode 100644 index 000000000..7eb7d70a6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_Nishimura_type_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "spondyloepiphyseal_dysplasia,_nishimura_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010230", + "label": "Cone-shaped epiphyses of the phalanges of the hand" + } + }, + { + "type": { + "id": "HP:0002205", + "label": "Recurrent respiratory infections" + } + }, + { + "type": { + "id": "HP:0002663", + "label": "Delayed epiphyseal ossification" + } + }, + { + "type": { + "id": "HP:0008873", + "label": "Disproportionate short-limb short stature" + } + }, + { + "type": { + "id": "HP:0200055", + "label": "Small hand" + } + }, + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + } + }, + { + "type": { + "id": "HP:0005348", + "label": "Inspiratory stridor" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0003196", + "label": "Short nose" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618618", + "label": "Spondyloepiphyseal dysplasia, Nishimura type" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:37.017293Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_Stanescu_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_Stanescu_type_patient_1.json new file mode 100644 index 000000000..f76baaa78 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_Stanescu_type_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "spondyloepiphyseal_dysplasia,_stanescu_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004568", + "label": "Beaking of vertebral bodies" + } + }, + { + "type": { + "id": "HP:0034372", + "label": "Internal tibial torsion" + } + }, + { + "type": { + "id": "HP:0002515", + "label": "Waddling gait" + } + }, + { + "type": { + "id": "HP:0005059", + "label": "Arthralgia/arthritis" + } + }, + { + "type": { + "id": "HP:0010665", + "label": "Bilateral coxa valga" + } + }, + { + "type": { + "id": "HP:0025258", + "label": "Stiff neck" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616583", + "label": "Spondyloepiphyseal dysplasia, Stanescu type" + } + } + ], + "metaData": { + "created": "2024-06-11T21:20:47.653587Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_brachydactyly_and_distinctive_speech_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_brachydactyly_and_distinctive_speech_patient_1.json new file mode 100644 index 000000000..b7115da1c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_brachydactyly_and_distinctive_speech_patient_1.json @@ -0,0 +1,243 @@ +{ + "id": "spondyloepiphyseal_dysplasia-brachydactyly_and_distinctive_speech", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001620", + "label": "High pitched voice" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0001371", + "label": "Flexion contracture" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0000179", + "label": "Thick lower lip vermilion" + } + }, + { + "type": { + "id": "HP:0001609", + "label": "Hoarse voice" + } + }, + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0006192", + "label": "Tapered phalanx of finger" + } + }, + { + "type": { + "id": "HP:0004634", + "label": "Cuboid-shaped vertebral bodies" + } + }, + { + "type": { + "id": "HP:0008873", + "label": "Disproportionate short-limb short stature" + } + }, + { + "type": { + "id": "HP:0002663", + "label": "Delayed epiphyseal ossification" + } + }, + { + "type": { + "id": "HP:0000581", + "label": "Blepharophimosis" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0000767", + "label": "Pectus excavatum" + } + }, + { + "type": { + "id": "HP:0005257", + "label": "Thoracic hypoplasia" + } + }, + { + "type": { + "id": "HP:0001773", + "label": "Short foot" + } + }, + { + "type": { + "id": "HP:0002866", + "label": "Hypoplastic iliac wing" + } + }, + { + "type": { + "id": "HP:0004580", + "label": "Anterior scalloping of vertebral bodies" + } + }, + { + "type": { + "id": "HP:0007665", + "label": "Curly eyelashes" + } + }, + { + "type": { + "id": "HP:0000311", + "label": "Round face" + } + }, + { + "type": { + "id": "HP:0000154", + "label": "Wide mouth" + } + }, + { + "type": { + "id": "HP:0005831", + "label": "Type B brachydactyly" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0000475", + "label": "Broad neck" + } + }, + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0005819", + "label": "Short middle phalanx of finger" + } + }, + { + "type": { + "id": "HP:0002967", + "label": "Cubitus valgus" + } + }, + { + "type": { + "id": "HP:0000215", + "label": "Thick upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611717", + "label": "Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech" + } + } + ], + "metaData": { + "created": "2024-06-11T23:28:44.300750Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_congenita_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_congenita_patient_1.json new file mode 100644 index 000000000..76797ab0c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_congenita_patient_1.json @@ -0,0 +1,134 @@ +{ + "id": "spondyloepiphyseal_dysplasia_congenita", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P11Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003311", + "label": "Hypoplasia of the odontoid process" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0002827", + "label": "Hip dislocation" + } + }, + { + "type": { + "id": "HP:0025573", + "label": "Mild myopia" + } + }, + { + "type": { + "id": "HP:0003413", + "label": "Atlantoaxial abnormality" + } + }, + { + "type": { + "id": "HP:0025142", + "label": "Constitutional symptom" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0008369", + "label": "Abnormal 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{ + "type": { + "id": "HP:0008458", + "label": "Progressive congenital scoliosis" + } + }, + { + "type": { + "id": "HP:0031609", + "label": "Geographic atrophy" + } + }, + { + "type": { + "id": "HP:0002655", + "label": "Spondyloepiphyseal dysplasia" + } + }, + { + "type": { + "id": "HP:0002075", + "label": "Dysdiadochokinesis" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0004463", + "label": "Absent brainstem auditory responses" + } + }, + { + "type": { + "id": "HP:0003808", + "label": "Abnormal muscle tone" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619260", + "label": "Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:52.626552Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_tarda_autosomal_recessive_leroy_sprangertype_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "spondyloepiphyseal_dysplasia_tarda,_autosomal_recessive,_leroy-sprangertype", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006429", + "label": "Broad femoral neck" + } + }, + { + "type": { + "id": "HP:0005108", + "label": "Abnormal intervertebral disk morphology" + } + }, + { + "type": { + "id": "HP:0002655", + "label": "Spondyloepiphyseal dysplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609223", + "label": "Spondyloepiphyseal dysplasia tarda, autosomal recessive, leroy-sprangertype" + } + } + ], + "metaData": { + "created": "2024-06-11T18:39:51.387879Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0002655", + "label": "Spondyloepiphyseal dysplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:271600", + "label": "Spondyloepiphyseal dysplasia tarda, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T23:36:07.596724Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_tarda_with_characteristic_facies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_tarda_with_characteristic_facies_patient_1.json new file mode 100644 index 000000000..16e5bf003 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_tarda_with_characteristic_facies_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spondyloepiphyseal_dysplasia_tarda_with_characteristic_facies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000179", + "label": "Thick lower lip vermilion" + } + }, + { + "type": { + "id": "HP:0000289", + "label": "Broad philtrum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600093", + "label": "Spondyloepiphyseal dysplasia tarda with characteristic facies" + } + } + ], + "metaData": { + "created": "2024-06-11T22:28:01.384523Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_tarda_with_mental_retardation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_tarda_with_mental_retardation_patient_1.json new file mode 100644 index 000000000..5ecd0b9f3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_tarda_with_mental_retardation_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "spondyloepiphyseal_dysplasia_tarda_with_mental_retardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000926", + "label": "Platyspondyly" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:0002652", + "label": "Skeletal dysplasia" + } + }, + { + "type": { + "id": "HP:0011844", + "label": "Abnormal appendicular skeleton morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:271620", + "label": "Spondyloepiphyseal dysplasia tarda with mental retardation" + } + } + ], + "metaData": { + "created": "2024-06-11T18:50:23.067741Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + 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+ }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001283", + "label": "Bulbar palsy" + } + }, + { + "type": { + "id": "HP:0005667", + "label": "Os odontoideum" + } + }, + { + "type": { + "id": "HP:0008489", + "label": "Spondylolisthesis at L5-S1" + } + }, + { + "type": { + "id": "HP:0011448", + "label": "Ankle clonus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600561", + "label": "Spondyloepiphyseal dysplasia with atlantoaxial instability" + } + } + ], + "metaData": { + "created": "2024-06-11T18:39:51.408918Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations_patient_1.json new file mode 100644 index 000000000..ae66121eb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations_patient_1.json @@ -0,0 +1,195 @@ +{ + "id": "spondyloepiphyseal_dysplasia_with_congenital_joint_dislocations", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002750", + "label": "Delayed skeletal maturation" + } + }, + { + "type": { + "id": "HP:0100864", + "label": "Short femoral neck" + } + }, + { + "type": { + "id": "HP:0001718", + "label": "Mitral stenosis" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + }, + { + "type": { + "id": "HP:0001787", + "label": "Abnormal delivery" + } + }, + { + "type": { + "id": "HP:0001593", + "label": "Maxillary lateral incisor microdontia" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + }, + { + "type": { + "id": "HP:0007598", + "label": "Bilateral single transverse palmar creases" + } + }, + { + "type": { + "id": "HP:0031610", + "label": "Recurrent shoulder dislocation" + } + }, + { + "type": { + "id": "HP:0003423", + "label": "Thoracolumbar kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0005070", + "label": "Proximal radial head dislocation" + } + }, + { + "type": { + "id": "HP:0002655", + "label": "Spondyloepiphyseal dysplasia" + } + }, + { + "type": { + "id": "HP:0003301", + "label": "Irregular vertebral endplates" + } + }, + { + "type": { + "id": "HP:0008873", + "label": "Disproportionate short-limb short stature" + } + }, + { + "type": { + "id": "HP:0100625", + "label": "Enlarged thorax" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0000692", + "label": "Tooth malposition" + } + }, + { + "type": { + "id": "HP:0006471", + "label": "Fixed elbow flexion" + } + }, + { + "type": { + "id": "HP:0025142", + "label": "Constitutional symptom" + } + }, + { + "type": { + "id": "HP:0003093", + "label": "Limited hip extension" + } + }, + { + "type": { + "id": "HP:0003895", + "label": "Flattened humeral epiphyses" + } + }, + { + "type": { + "id": "HP:0009471", + "label": "Contracture of the proximal interphalangeal joint of the 3rd finger" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0009815", + "label": "Aplasia/hypoplasia of the extremities" + } + }, + { + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylomegaepiphyseal_dysplasia_with_upper_limb_mesomelia_punctatecalcifications_and_deafness_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylomegaepiphyseal_dysplasia_with_upper_limb_mesomelia_punctatecalcifications_and_deafness_patient_1.json new file mode 100644 index 000000000..9cea9c7c4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylomegaepiphyseal_dysplasia_with_upper_limb_mesomelia_punctatecalcifications_and_deafness_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "spondylomegaepiphyseal_dysplasia_with_upper_limb_mesomelia,_punctatecalcifications,_and_deafness", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001216", + "label": "Delayed ossification of carpal bones" + } + }, + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + } + }, + { + "type": { + "id": "HP:0010230", + "label": "Cone-shaped epiphyses of the phalanges of the hand" + } + }, + { + "type": { + "id": "HP:0003180", + "label": "Flat acetabular roof" + } + }, + { + "type": { + "id": "HP:0003173", + "label": "Hypoplastic pubic bone" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0011844", + "label": "Abnormal appendicular skeleton morphology" + } + }, + { + "type": { + "id": "HP:0002644", + "label": "Abnormal pelvic girdle bone morphology" + } + }, + { + "type": { + "id": "HP:0004592", + "label": "Thoracic platyspondyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609616", + "label": "Spondylomegaepiphyseal dysplasia with upper limb mesomelia, punctatecalcifications, and deafness" + } + } + ], + "metaData": { + "created": "2024-06-11T23:29:21.901733Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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[ + { + "type": { + "id": "HP:0009875", + "label": "Triangular shaped distal phalanges of the hand" + } + }, + { + "type": { + "id": "HP:0002983", + "label": "Micromelia" + } + }, + { + "type": { + "id": "HP:0011120", + "label": "Concave nasal ridge" + } + }, + { + "type": { + "id": "HP:0003396", + "label": "Syringomyelia" + } + }, + { + "type": { + "id": "HP:0010655", + "label": "Epiphyseal stippling" + } + }, + { + "type": { + "id": "HP:0000926", + "label": "Platyspondyly" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0000774", + "label": "Narrow chest" + } + }, + { + "type": { + "id": "HP:0009931", + "label": "Enlarged naris" + } + }, + { + "type": { + "id": "HP:0003085", + "label": "Long fibula" + } + }, + { + "type": { + "id": "HP:0005622", + "label": "Broad long bones" + } + }, + { + "type": { + "id": "HP:0000767", + "label": "Pectus excavatum" 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"subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003510", + "label": "Severe short stature" + } + }, + { + "type": { + "id": "HP:0006434", + "label": "Hypoplasia of proximal radius" + } + }, + { + "type": { + "id": "HP:0003865", + "label": "Bowed humerus" + } + }, + { + "type": { + "id": "HP:0030292", + "label": "Tibial metaphyseal irregularity" + } + }, + { + "type": { + "id": "HP:0002857", + "label": "Genu valgum" + } + }, + { + "type": { + "id": "HP:0100255", + "label": "Metaphyseal dysplasia" + } + }, + { + "type": { + "id": "HP:0002751", + "label": "Kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0002657", + "label": "Spondylometaphyseal dysplasia" + } + }, + { + "type": { + "id": "HP:0003185", + "label": "Short greater sciatic notch" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + } + ], + "diseases": [ + { + "term": { 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000000000..a3872de4d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylometaphyseal_dysplasia_Kozlowski_type_patient_1.json @@ -0,0 +1,165 @@ +{ + "id": "spondylometaphyseal_dysplasia,_kozlowski_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001547", + "label": "Abnormal rib cage morphology" + } + }, + { + "type": { + "id": "HP:0002869", + "label": "Flared iliac wing" + } + }, + { + "type": { + "id": "HP:0002826", + "label": "Halberd-shaped pelvis" + } + }, + { + "type": { + "id": "HP:0001498", + "label": "Carpal bone hypoplasia" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0002812", + "label": "Coxa vara" + } + }, + { + "type": { + "id": "HP:0003180", + "label": "Flat acetabular roof" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0008833", + "label": 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"type": { + "id": "HP:0005832", + "label": "Dysharmonic delayed bone age" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:184252", + "label": "Spondylometaphyseal dysplasia, Kozlowski type" + } + } + ], + "metaData": { + "created": "2024-06-11T21:46:00.167710Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylometaphyseal_dysplasia_Megarbane_Dagher_Melki_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylometaphyseal_dysplasia_Megarbane_Dagher_Melki_type_patient_1.json new file mode 100644 index 000000000..f7b48d0b6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylometaphyseal_dysplasia_Megarbane_Dagher_Melki_type_patient_1.json @@ -0,0 +1,189 @@ +{ + "id": "spondylometaphyseal_dysplasia,_megarbane-dagher-melki_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0000773", + "label": "Short ribs" + } + }, + { + "type": { + "id": "HP:0002645", + "label": "Wormian bones" + } + }, + { + "type": { + "id": "HP:0008936", + "label": "Axial hypotonia" + } + }, + { + "type": { + "id": "HP:0003021", + "label": "Metaphyseal cupping" + } + }, + { + "type": { + "id": "HP:0002092", + "label": "Pulmonary arterial hypertension" + } + }, + { + "type": { + "id": "HP:0004565", + "label": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylometaphyseal_dysplasia_Sedaghatian_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylometaphyseal_dysplasia_Sedaghatian_type_patient_1.json new file mode 100644 index 000000000..30198b47e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylometaphyseal_dysplasia_Sedaghatian_type_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "spondylometaphyseal_dysplasia,_sedaghatian_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002869", + "label": "Flared iliac wing" + } + }, + { + "type": { + "id": "HP:0000926", + "label": "Platyspondyly" + } + }, + { + "type": { + "id": "HP:0003021", + "label": "Metaphyseal cupping" + } + }, + { + "type": { + "id": "HP:0003180", + "label": "Flat acetabular roof" + } + }, + { + "type": { + "id": "HP:0003375", + "label": "Narrow greater sciatic notch" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylometaphyseal_dysplasia_X_linked_patient_1.json @@ -0,0 +1,153 @@ +{ + "id": "spondylometaphyseal_dysplasia,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003273", + "label": "Hip contracture" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0009381", + "label": "Short finger" + } + }, + { + "type": { + "id": "HP:0000926", + "label": "Platyspondyly" + } + }, + { + "type": { + "id": "HP:0003037", + "label": "Enlarged joints" + } + }, + { + "type": { + "id": "HP:0006380", + "label": "Knee flexion contracture" + } + }, + { + "type": { + "id": "HP:0002944", + "label": "Thoracolumbar scoliosis" + } + }, + { + "type": { + "id": "HP:0002657", + "label": "Spondylometaphyseal dysplasia" + } + }, + { + "type": { + "id": "HP:0002093", + "label": "Respiratory insufficiency" + } + }, + { + "type": { + "id": 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"spondylometaphyseal_dysplasia,_axial", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000548", + "label": "Cone/cone-rod dystrophy" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + }, + { + "type": { + "id": "HP:0008905", + "label": "Rhizomelia" + } + }, + { + "type": { + "id": "HP:0012207", + "label": "Reduced sperm motility" + } + }, + { + "type": { + "id": "HP:0001744", + "label": "Splenomegaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602271", + "label": "Spondylometaphyseal dysplasia, axial" + } + } + ], + "metaData": { + "created": "2024-06-11T20:09:35.429Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002812", + "label": "Coxa vara" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0002657", + "label": "Spondylometaphyseal dysplasia" + } + }, + { + "type": { + "id": "HP:0003908", + "label": "Corner fracture of metaphysis" + } + }, + { + "type": { + "id": "HP:0003311", + "label": "Hypoplasia of the odontoid process" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:184255", + "label": "Spondylometaphyseal dysplasia, corner Fracture type" + } + } + ], + "metaData": { + "created": "2024-06-11T22:20:27.857963Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylometaphyseal_dysplasia_type_A4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylometaphyseal_dysplasia_type_A4_patient_1.json new file mode 100644 index 000000000..bf7cb229c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylometaphyseal_dysplasia_type_A4_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "spondylometaphyseal_dysplasia,_type_a4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000920", + "label": "Enlargement of the costochondral junction" + } + }, + { + "type": { + "id": "HP:0011844", + "label": "Abnormal appendicular skeleton morphology" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0005069", + "label": "Rhizo-meso-acromelic limb shortening" + } + }, + { + "type": { + "id": "HP:0003309", + "label": "Ovoid thoracolumbar vertebrae" + } + }, + { + "type": { + "id": "HP:0030799", + "label": "Scaphocephaly" + } + }, + { + "type": { + "id": "HP:0003411", + "label": "Proximal femoral metaphyseal irregularity" + } + }, + { + "type": { + "id": "HP:0005041", + "label": "Irregular capital femoral epiphysis" + } + }, + { + "type": { + "id": "HP:0003180", + "label": "Flat acetabular roof" + } + }, + { + "type": { + "id": "HP:0006623", + "label": "Costochondral joint sclerosis" + } + }, + { + "type": { + "id": "HP:0034669", + "label": "Abnormal knee morphology" + } + }, + { + "type": { + "id": "HP:0030309", + "label": "Flared distal fibular metaphysis" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609052", + "label": "Spondylometaphyseal dysplasia, type A4" + } + } + ], + "metaData": { + "created": "2024-06-11T20:03:35.674613Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylometaphyseal_dysplasia_with_cone_rod_dystrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylometaphyseal_dysplasia_with_cone_rod_dystrophy_patient_1.json new file mode 100644 index 000000000..f0c49fb1a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylometaphyseal_dysplasia_with_cone_rod_dystrophy_patient_1.json @@ -0,0 +1,104 @@ +{ + "id": "spondylometaphyseal_dysplasia_with_cone-rod_dystrophy", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000550", + "label": "Undetectable electroretinogram" + } + }, + { + "type": { + "id": "HP:0008905", + "label": "Rhizomelia" + } + }, + { + "type": { + "id": "HP:0004565", + "label": "Severe platyspondyly" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + }, + { + "type": { + "id": "HP:0000529", + "label": "Progressive visual loss" + } + }, + { + "type": { + "id": "HP:0001105", + "label": "Retinal atrophy" + } + }, + { + "type": { + "id": "HP:0001387", + "label": "Joint stiffness" + } + }, + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + } + }, + { + "type": { + "id": "HP:0003026", + "label": "Short long bone" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608940", + "label": "Spondylometaphyseal dysplasia with cone-rod dystrophy" + } + } + ], + "metaData": { + "created": "2024-06-11T20:45:40.575125Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylometaphyseal_dysplasia_with_corneal_dystrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylometaphyseal_dysplasia_with_corneal_dystrophy_patient_1.json new file mode 100644 index 000000000..b84f3622b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylometaphyseal_dysplasia_with_corneal_dystrophy_patient_1.json @@ -0,0 +1,123 @@ +{ + "id": "spondylometaphyseal_dysplasia_with_corneal_dystrophy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004592", + "label": "Thoracic platyspondyly" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0000520", + "label": "Proptosis" + } + }, + { + "type": { + "id": "HP:0009815", + "label": "Aplasia/hypoplasia of the extremities" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0005028", + "label": "Widened proximal tibial metaphyses" + } + }, + { + "type": { + "id": "HP:0000774", + "label": "Narrow chest" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:0005787", + "label": "Lumbar platyspondyly" + } + }, + { + "type": { + "id": "HP:0006008", + "label": "Unilateral brachydactyly" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0030320", + "label": "Increased intervertebral space" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618961", + "label": "Spondylometaphyseal dysplasia with corneal dystrophy" + } + } + ], + "metaData": { + "created": "2024-06-11T21:03:46.988831Z", + 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"subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000541", + "label": "Retinal detachment" + } + }, + { + "type": { + "id": "HP:0031846", + "label": "Femur fracture" + } + }, + { + "type": { + "id": "HP:0001166", + "label": "Arachnodactyly" + } + }, + { + "type": { + "id": "HP:0001763", + "label": "Pes planus" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0007889", + "label": "Iridescent posterior subcapsular cataract" + } + }, + { + "type": { + "id": "HP:0004764", + "label": "Myxomatous mitral valve degeneration" + } + }, + { + "type": { + "id": "HP:0005176", + "label": "Dysplastic aortic valve" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + }, + { + "type": { + "id": "HP:0025033", + "label": "Abnormal digestive system 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"id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0000465", + "label": "Webbed neck" + } + }, + { + "type": { + "id": "HP:0001182", + "label": "Tapered finger" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605822", + "label": "Spondyloocular syndrome" + } + } + ], + "metaData": { + "created": "2024-06-12T01:40:54.656988Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git 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{ + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0034374", + "label": "Trident acetabulum" + } + }, + { + "type": { + "id": "HP:0004180", + "label": "Short distal phalanx of the 3rd finger" + } + }, + { + "type": { + "id": "HP:0003370", + "label": "Flat capital femoral epiphysis" + } + }, + { + "type": { + "id": "HP:0003180", + "label": "Flat acetabular roof" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0005060", + "label": "Limited elbow flexion/extension" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:271700", + "label": "Spondyloperipheral dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T22:19:22.406194Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylosis_cervical_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylosis_cervical_patient_1.json new file mode 100644 index 000000000..4d389a75e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylosis_cervical_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "spondylosis,_cervical", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003298", + "label": "Spina bifida occulta" + } + }, + { + "type": { + "id": "HP:0003304", + "label": "Spondylolysis" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylospinal_thoracic_dysostosis_patient_1.json new file mode 100644 index 000000000..ef4f63842 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spondylospinal_thoracic_dysostosis_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "spondylospinal_thoracic_dysostosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002804", + "label": "Arthrogryposis multiplex congenita" + } + }, + { + "type": { + "id": "HP:0001367", + "label": "Abnormal joint morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601809", + "label": "Spondylospinal thoracic dysostosis" + } + } + ], + "metaData": { + "created": "2024-06-11T21:17:21.510259Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Spongiform_encephalopathy_with_neuropsychiatric_features_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spongiform_encephalopathy_with_neuropsychiatric_features_patient_1.json new file mode 100644 index 000000000..b82c1e2b1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Spongiform_encephalopathy_with_neuropsychiatric_features_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "spongiform_encephalopathy_with_neuropsychiatric_features", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + } + }, + { + "type": { + "id": "HP:0000751", + "label": "Personality changes" + } + }, + { + "type": { + "id": "HP:0001300", + "label": "Parkinsonism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606688", + "label": "Spongiform encephalopathy with neuropsychiatric features" + } + } + ], + "metaData": { + "created": "2024-06-11T18:47:53.153159Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Sprengel_deformity_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sprengel_deformity_patient_1.json new file mode 100644 index 000000000..09c4fde15 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sprengel_deformity_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "sprengel_deformity", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003298", + "label": "Spina bifida occulta" + } + }, + { + "type": { + "id": "HP:0008984", + "label": "Neck muscle hypoplasia" + } + }, + { + "type": { + "id": "HP:0002937", + "label": "Hemivertebrae" + } + }, + { + "type": { + "id": "HP:0001547", + "label": "Abnormal rib cage morphology" + } + }, + { + "type": { + "id": "HP:0000912", + "label": "Sprengel anomaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:184400", + "label": "Sprengel deformity" + } + } + ], + "metaData": { + "created": "2024-06-11T17:51:35.882979Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Squalene_synthase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Squalene_synthase_deficiency_patient_1.json new file mode 100644 index 000000000..7edd84f6b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Squalene_synthase_deficiency_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "squalene_synthase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000400", + "label": "Macrotia" + } + }, + { + "type": { + "id": "HP:0006380", + "label": "Knee flexion contracture" + } + }, + { + "type": { + "id": "HP:0033146", + "label": "Elevated circulating methylsuccinic acid concentration" + } + }, + { + "type": { + "id": "HP:0033083", + "label": "Increased circulating farnesol concentration" + } + }, + { + "type": { + "id": "HP:0000992", + "label": "Cutaneous photosensitivity" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0000737", + "label": "Irritability" + } + }, + { + "type": { + "id": "HP:0011471", + "label": "Gastrostomy tube feeding in infancy" + } + }, + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + }, + "onset": { + "ontologyClass": { + "id": "HP:0030674", + "label": "Antenatal onset" + } + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:6000465", + "label": "Elevated urine mesaconic acid level" + } + }, + { + "type": { + "id": "HP:0012736", + "label": "Profound global developmental delay" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0012451", + "label": "Acute constipation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618156", + "label": "Squalene synthase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:48.720683Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Squamous_cell_carcinoma_head_and_neck_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Squamous_cell_carcinoma_head_and_neck_patient_1.json new file mode 100644 index 000000000..bbdd6724e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Squamous_cell_carcinoma_head_and_neck_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "squamous_cell_carcinoma,_head_and_neck", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002860", + "label": "Squamous cell carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:275355", + "label": "Squamous cell carcinoma, head and neck" + } + } + ], + "metaData": { + "created": "2024-06-11T20:46:03.161643Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Stankiewicz_Isidor_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stankiewicz_Isidor_syndrome_patient_1.json new file mode 100644 index 000000000..45cb25127 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stankiewicz_Isidor_syndrome_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "stankiewicz-isidor_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012795", + "label": "Abnormal optic disc morphology" + } + }, + { + "type": { + "id": "HP:0000752", + "label": "Hyperactivity" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0000054", + "label": "Micropenis" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0000448", + "label": "Prominent nose" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0000960", + "label": "Sacral dimple" + } + }, + { + "type": { + "id": "HP:0004691", + "label": "2-3 toe syndactyly" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0009121", + "label": "Abnormal axial skeleton morphology" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0012683", + "label": "Pineal cyst" + } + }, + { + "type": { + "id": "HP:0000753", + "label": "Autism with high cognitive abilities" + } + }, + { + "type": { + "id": "HP:0500079", + "label": "Alternating hypophoria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617516", + "label": "Stankiewicz-Isidor syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:37:11.630842Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Stapes_ankylosis_with_broad_thumb_and_toes_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stapes_ankylosis_with_broad_thumb_and_toes_patient_1.json new file mode 100644 index 000000000..bcd1fdd0f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stapes_ankylosis_with_broad_thumb_and_toes_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "stapes_ankylosis_with_broad_thumb_and_toes", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001770", + "label": "Toe syndactyly" + } + }, + { + "type": { + "id": "HP:0009177", + "label": "Proximal/middle symphalangism of 5th finger" + } + }, + { + "type": { + "id": "HP:0000466", + "label": "Limited neck range of motion" + } + }, + { + "type": { + "id": "HP:0003189", + "label": "Long nose" + } + }, + { + "type": { + "id": "HP:0004602", + "label": "Cervical C2/C3 vertebral fusion" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:184460", + "label": "Stapes ankylosis with broad thumb and toes" + } + } + ], + "metaData": { + "created": "2024-06-11T19:54:21.130396Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Stargardt_disease_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stargardt_disease_1_patient_1.json new file mode 100644 index 000000000..25b2b02a1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stargardt_disease_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "stargardt_disease_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011504", + "label": "Bull's eye maculopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:248200", + "label": "Stargardt disease 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:52:30.977774Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Stargardt_disease_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stargardt_disease_3_patient_1.json new file mode 100644 index 000000000..cf15a97cb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stargardt_disease_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "stargardt_disease_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007854", + "label": "Glaucomatous visual field defect" + } + }, + { + "type": { + "id": "HP:0000479", + "label": "Abnormal retinal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600110", + "label": "Stargardt disease 3" + } + } + ], + "metaData": { + "created": "2024-06-11T21:01:40.121692Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Stargardt_disease_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stargardt_disease_4_patient_1.json new file mode 100644 index 000000000..a52b12a12 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stargardt_disease_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "stargardt_disease_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000608", + "label": "Macular degeneration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603786", + "label": "Stargardt disease 4" + } + } + ], + "metaData": { + "created": "2024-06-11T20:22:57.895435Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Steatocystoma_multiplex_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Steatocystoma_multiplex_patient_1.json new file mode 100644 index 000000000..1deec0bee --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Steatocystoma_multiplex_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "steatocystoma_multiplex", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012035", + "label": "Steatocystoma multiplex" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:184500", + "label": "Steatocystoma multiplex" + } + } + ], + "metaData": { + "created": "2024-06-11T19:50:30.878286Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Steatocystoma_multiplex_with_natal_teeth_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Steatocystoma_multiplex_with_natal_teeth_patient_1.json new file mode 100644 index 000000000..086215f73 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Steatocystoma_multiplex_with_natal_teeth_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "steatocystoma_multiplex_with_natal_teeth", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012035", + "label": "Steatocystoma multiplex" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:184510", + "label": "Steatocystoma multiplex with natal teeth" + } + } + ], + "metaData": { + "created": "2024-06-11T20:36:18.182989Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Steel_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Steel_syndrome_patient_1.json new file mode 100644 index 000000000..02cc1b28c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Steel_syndrome_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "steel_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004209", + "label": "Clinodactyly of the 5th finger" + } + }, + { + "type": { + "id": "HP:0002812", + "label": "Coxa vara" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001377", + "label": "Limited elbow extension" + } + }, + { + "type": { + "id": "HP:0001191", + "label": "Abnormal carpal morphology" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0032649", + "label": "Skewfoot" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615155", + "label": "Steel syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:14:38.156951Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Steinfeld_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Steinfeld_syndrome_patient_1.json new file mode 100644 index 000000000..74b675410 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Steinfeld_syndrome_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "steinfeld_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0011467", + "label": "Absent gallbladder" + } + }, + { + "type": { + "id": "HP:0000921", + "label": "Missing ribs" + } + }, + { + "type": { + "id": "HP:0000480", + "label": "Retinal coloboma" + } + }, + { + "type": { + "id": "HP:0008718", + "label": "Unilateral renal dysplasia" + } + }, + { + "type": { + "id": "HP:0000193", + "label": "Bifid uvula" + } + }, + { + "type": { + "id": "HP:0001360", + "label": "Holoprosencephaly" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + }, + "modifiers": [ + { + "id": "HP:0012832", + "label": "Bilateral" + } + ] + }, + { + "type": { + "id": "HP:0006434", + "label": "Hypoplasia of proximal radius" + }, + "modifiers": [ + { + "id": "HP:0012832", + "label": "Bilateral" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:184705", + "label": "Steinfeld syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:02:14.334954Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Stevenson_Carey_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stevenson_Carey_syndrome_patient_1.json new file mode 100644 index 000000000..c833c014c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stevenson_Carey_syndrome_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "stevenson-carey_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0034337", + "label": "Claw hand deformity" + } + }, + { + "type": { + "id": "HP:0200006", + "label": "Slanting of the palpebral fissure" + } + }, + { + "type": { + "id": "HP:0030044", + "label": "Flexion contracture of digit" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0000430", + "label": "Underdeveloped nasal alae" + } + }, + { + "type": { + "id": "HP:0002280", + "label": "Enlarged cisterna magna" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611961", + "label": "Stevenson-Carey syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:41:50.791568Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Stickler_sydrome_type_I_nonsyndromic_ocular_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stickler_sydrome_type_I_nonsyndromic_ocular_patient_1.json new file mode 100644 index 000000000..2ad3a88e3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stickler_sydrome_type_I_nonsyndromic_ocular_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "stickler_sydrome,_type_i,_nonsyndromic_ocular", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609508", + "label": "Stickler sydrome, type I, nonsyndromic ocular" + } + } + ], + "metaData": { + "created": "2024-06-11T19:30:26.751169Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Stickler_syndrome_type_III_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stickler_syndrome_type_III_patient_1.json new file mode 100644 index 000000000..f6744a9a4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stickler_syndrome_type_III_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "stickler_syndrome,_type_iii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0000272", + "label": "Malar flattening" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0010580", + "label": "Enlarged epiphyses" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0000201", + "label": "Pierre-Robin sequence" + } + }, + { + "type": { + "id": "HP:0001369", + "label": "Arthritis" + } + }, + { + "type": { + "id": "HP:0005752", + "label": "Flattened moderately deformed vertebrae" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:184840", + "label": "Stickler syndrome, type III" + } + } + ], + "metaData": { + "created": "2024-06-11T20:26:51.216650Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Stickler_syndrome_type_II_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stickler_syndrome_type_II_patient_1.json new file mode 100644 index 000000000..b14e2797e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stickler_syndrome_type_II_patient_1.json @@ -0,0 +1,98 @@ +{ + "id": "stickler_syndrome,_type_ii", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004327", + "label": "Abnormal vitreous humor morphology" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0012231", + "label": "Exudative retinal detachment" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604841", + "label": "Stickler syndrome, type II" + } + } + ], + "metaData": { + "created": "2024-06-11T18:51:33.288177Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Stickler_syndrome_type_IV_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stickler_syndrome_type_IV_patient_1.json new file mode 100644 index 000000000..ace4cd795 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stickler_syndrome_type_IV_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "stickler_syndrome,_type_iv", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200065", + "label": "Chorioretinal degeneration" + } + }, + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0002656", + "label": "Epiphyseal dysplasia" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0100864", + "label": "Short femoral neck" + } + }, + { + "type": { + "id": "HP:0012368", + "label": "Flat face" + } + }, + { + "type": { + "id": "HP:0100531", + "label": "Wind-swept deformity of the knees" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614134", + "label": "Stickler syndrome, type IV" + } + } + ], + "metaData": { + "created": "2024-06-11T23:07:41.561025Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Stickler_syndrome_type_I_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stickler_syndrome_type_I_patient_1.json new file mode 100644 index 000000000..6b50b8102 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stickler_syndrome_type_I_patient_1.json @@ -0,0 +1,207 @@ +{ + "id": "stickler_syndrome,_type_i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001387", + "label": "Joint stiffness" + } + }, + { + "type": { + "id": "HP:0003095", + "label": "Septic arthritis" + } + }, + { + "type": { + "id": "HP:0000176", + "label": "Submucous cleft hard palate" + } + }, + { + "type": { + "id": "HP:0000098", + "label": "Tall stature" + } + }, + { + "type": { + "id": "HP:0012317", + "label": "Sacroiliac arthritis" + } + }, + { + "type": { + "id": "HP:0008478", + "label": "Scheuermann-like vertebral changes" + } + }, + { + "type": { + "id": "HP:0000272", + "label": "Malar flattening" + } + }, + { + "type": { + "id": "HP:0012231", + "label": "Exudative retinal detachment" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0009121", + "label": "Abnormal axial skeleton morphology" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:5201006", + "label": "Incomplete cleft soft palate" + } + }, + { + "type": { + "id": "HP:0006398", + "label": "Flat distal femoral epiphysis" + } + }, + { + "type": { + "id": "HP:0003468", + "label": "Abnormal vertebral morphology" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0002821", + "label": "Neuropathic arthropathy" + } + }, + { + "type": { + "id": "HP:0100807", + "label": "Long fingers" + } + }, + { + "type": { + "id": "HP:0003302", + "label": "Spondylolisthesis" + } + }, + { + "type": { + "id": "HP:0005041", + "label": "Irregular capital femoral epiphysis" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0011530", + "label": "Retinal hole" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0003423", + "label": "Thoracolumbar kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0005790", + "label": "Short mandibular condyles" + } + } + ], + "diseases": [ + { + "term": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stickler_syndrome_type_VI_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "stickler_syndrome,_type_vi", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034372", + "label": "Internal tibial torsion" + } + }, + { + "type": { + "id": "HP:0031624", + "label": "Moderate myopia" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0008081", + "label": "Pes valgus" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0000483", + "label": "Astigmatism" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0032649", + "label": "Skewfoot" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620022", + "label": "Stickler syndrome, type VI" + } + } + ], + "metaData": { + "created": "2024-06-11T21:56:38.744957Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Stickler_syndrome_type_V_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stickler_syndrome_type_V_patient_1.json new file mode 100644 index 000000000..be942bf4c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stickler_syndrome_type_V_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "stickler_syndrome,_type_v", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0004327", + "label": "Abnormal vitreous humor morphology" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0000479", + "label": "Abnormal retinal morphology" + } + }, + { + "type": { + "id": "HP:0000331", + "label": "Short chin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614284", + "label": "Stickler syndrome, type V" + } + } + ], + "metaData": { + "created": "2024-06-11T23:38:34.756598Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Stiff_Person_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stiff_Person_syndrome_patient_1.json new file mode 100644 index 000000000..0f4ff41ee --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stiff_Person_syndrome_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "stiff-person_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001649", + "label": "Tachycardia" + } + }, + { + "type": { + "id": "HP:0003739", + "label": "Myoclonic spasms" + } + }, + { + "type": { + "id": "HP:0002267", + "label": "Exaggerated startle response" + } + }, + { + "type": { + "id": "HP:0100851", + "label": "Abnormal emotion" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:184850", + "label": "Stiff-Person syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:01:01.772393Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Stiff_skin_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stiff_skin_syndrome_patient_1.json new file mode 100644 index 000000000..18437f049 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stiff_skin_syndrome_patient_1.json @@ -0,0 +1,86 @@ +{ + "id": "stiff_skin_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P45Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003596", + "label": "Middle age onset" + } + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0003121", + "label": "Limb joint contracture" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0001376", + "label": "Limitation of joint mobility" + } + }, + { + "type": { + "id": "HP:0002020", + "label": "Gastroesophageal reflux" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:184900", + "label": "Stiff skin syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:12:18.816497Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Stocco_dos_santos_X_linked_mental_retardation_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stocco_dos_santos_X_linked_mental_retardation_syndrome_patient_1.json new file mode 100644 index 000000000..cd5d4fb72 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stocco_dos_santos_X_linked_mental_retardation_syndrome_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "stocco_dos_santos_x-linked_mental_retardation_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0002187", + "label": "Intellectual disability, profound" + } + }, + { + "type": { + "id": "HP:0008929", + "label": "Asymmetric short stature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300434", + "label": "Stocco dos santos X-linked mental retardation syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:58:18.318644Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Stomatin_deficient_cryohydrocytosis_with_neurologic_defects_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stomatin_deficient_cryohydrocytosis_with_neurologic_defects_patient_1.json new file mode 100644 index 000000000..f1024e2a5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stomatin_deficient_cryohydrocytosis_with_neurologic_defects_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "stomatin-deficient_cryohydrocytosis_with_neurologic_defects", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001878", + "label": "Hemolytic anemia" + }, + "modifiers": [ + { + "id": "HP:0025303", + "label": "Episodic" + } + ] + }, + { + "type": { + "id": "HP:0002153", + "label": "Hyperkalemia" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0000952", + "label": "Jaundice" + } + }, + { + "type": { + "id": "HP:0006268", + "label": "Fluctuating splenomegaly" + } + }, + { + "type": { + "id": "HP:0025116", + "label": "Fetal distress" + } + }, + { + "type": { + "id": "HP:0002908", + "label": "Conjugated hyperbilirubinemia" + } + }, + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608885", + "label": "Stomatin-deficient cryohydrocytosis with neurologic defects" + } + } + ], + "metaData": { + "created": "2024-06-11T17:49:24.043366Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Storage_pool_platelet_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Storage_pool_platelet_disease_patient_1.json new file mode 100644 index 000000000..8507c4b6a --- /dev/null +++ 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Stormorken_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stormorken_syndrome_patient_1.json new file mode 100644 index 000000000..62665e16e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Stormorken_syndrome_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "stormorken_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002277", + "label": "Horner syndrome" + } + }, + { + "type": { + "id": "HP:0025408", + "label": "Abnormal spleen morphology" + } + }, + { + "type": { + "id": "HP:0012531", + "label": "Pain" + } + }, + { + "type": { + "id": "HP:0006270", + "label": "Hypoplastic spleen" + } + }, + { + "type": { + "id": "HP:0004406", + "label": "Spontaneous, recurrent epistaxis" + } + }, + { + "type": { + "id": "HP:0032550", + "label": "Howell-Jolly 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000000000..ace9d9bf5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Strabismus_susceptibility_to_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "strabismus,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000486", + "label": "Strabismus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:185100", + "label": "Strabismus, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-12T00:30:07.953272Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Striatonigral_degeneration_childhood_onset_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "striatonigral_degeneration,_childhood-onset", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003236", + "label": "Elevated circulating creatine kinase concentration" + } + }, + { + "type": { + "id": "HP:0012179", + "label": "Craniofacial dystonia" + } + }, + { + "type": { + "id": "HP:0001276", + "label": "Hypertonia" + } + }, + { + "type": { + "id": "HP:0001332", + "label": "Dystonia" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617054", + "label": "Striatonigral degeneration, childhood-onset" + } + } + ], + "metaData": { + "created": "2024-06-11T20:56:28.697683Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Striatonigral_degeneration_infantile_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Striatonigral_degeneration_infantile_patient_1.json new file mode 100644 index 000000000..7a3951526 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Striatonigral_degeneration_infantile_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "striatonigral_degeneration,_infantile", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002015", + "label": "Dysphagia" + } + }, + { + "type": { + "id": "HP:0002376", + "label": "Developmental regression" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:271930", + "label": "Striatonigral degeneration, infantile" + } + } + ], + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Structural_brain_anomalies_with_impaired_intellectual_development_and_craniosynostosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Structural_brain_anomalies_with_impaired_intellectual_development_and_craniosynostosis_patient_1.json new file mode 100644 index 000000000..bb3e4b4bb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Structural_brain_anomalies_with_impaired_intellectual_development_and_craniosynostosis_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "structural_brain_anomalies_with_impaired_intellectual_development_and_craniosynostosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0000609", + "label": "Optic nerve hypoplasia" + } + }, + { + "type": { + "id": "HP:0012110", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Structural_heart_defects_and_renal_anomalies_syndrome_patient_1.json new file mode 100644 index 000000000..a80cb4142 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Structural_heart_defects_and_renal_anomalies_syndrome_patient_1.json @@ -0,0 +1,98 @@ +{ + "id": "structural_heart_defects_and_renal_anomalies_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0005301", + "label": "Persistent left superior vena cava" + } + }, + { + "type": { + "id": "HP:0011611", + "label": "Interrupted aortic arch" + } + }, + { + "type": { + "id": "HP:0000107", + "label": "Renal cyst" + } + }, + { + "type": { + "id": "HP:0003259", + "label": "Elevated circulating creatinine concentration" + }, + "onset": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Succinyl_CoA_3_oxoacid_CoA_transferase_deficiency_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "succinyl_coa:3-oxoacid_coa_transferase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:6000361", + "label": "Reduced succinyl-CoA:3-oxoacid-CoA transferase activity in cultured fibroblasts" + } + }, + { + "type": { + "id": "HP:0005974", + "label": "Episodic ketoacidosis" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:245050", + "label": "Succinyl CoA:3-oxoacid CoA transferase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T20:00:05.800651Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + 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"label": "Diarrhea" + } + }, + { + "type": { + "id": "HP:0004789", + "label": "Lactose intolerance" + } + }, + { + "type": { + "id": "HP:0034684", + "label": "Abnormal enzyme concentration or activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:222900", + "label": "Sucrase-isomaltase deficiency, congenital" + } + } + ], + "metaData": { + "created": "2024-06-11T17:55:05.374158Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Sucrosuria_hiatus_hernia_and_mental_retardation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sucrosuria_hiatus_hernia_and_mental_retardation_patient_1.json new file mode 100644 index 000000000..346039fc0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sucrosuria_hiatus_hernia_and_mental_retardation_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "sucrosuria,_hiatus_hernia_and_mental_retardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001939", + "label": "Abnormality of metabolism/homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:272000", + "label": "Sucrosuria, hiatus hernia and mental retardation" + } + } + ], + "metaData": { + "created": "2024-06-11T20:38:37.516029Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Sudden_cardiac_failure_alcohol_induced_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sudden_cardiac_failure_alcohol_induced_patient_1.json new file mode 100644 index 000000000..5712e8936 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sudden_cardiac_failure_alcohol_induced_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "sudden_cardiac_failure,_alcohol-induced", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001685", + "label": "Myocardial fibrosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617223", + "label": "Sudden cardiac failure, alcohol-induced" + } + } + ], + "metaData": { + "created": "2024-06-11T18:41:36.955278Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Sudden_cardiac_failure_infantile_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sudden_cardiac_failure_infantile_patient_1.json new file mode 100644 index 000000000..c17110c44 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sudden_cardiac_failure_infantile_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "sudden_cardiac_failure,_infantile", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + }, + { + "type": { + "id": "HP:0001645", + "label": "Sudden cardiac death" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617222", + "label": "Sudden cardiac failure, infantile" + } + } + ], + "metaData": { + "created": "2024-06-11T18:46:33.836981Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Sudden_infant_death_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sudden_infant_death_syndrome_patient_1.json new file mode 100644 index 000000000..0326ee6ef --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sudden_infant_death_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "sudden_infant_death_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002047", + "label": "Malignant hyperthermia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:272120", + "label": "Sudden infant death syndrome" + } + } + ], + "metaData": { + "created": "2024-06-12T01:07:13.851636Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Sudden_infant_death_with_dysgenesis_of_the_testes_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sudden_infant_death_with_dysgenesis_of_the_testes_syndrome_patient_1.json new file mode 100644 index 000000000..7e4315c14 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sudden_infant_death_with_dysgenesis_of_the_testes_syndrome_patient_1.json @@ -0,0 +1,176 @@ +{ + "id": "sudden_infant_death_with_dysgenesis_of_the_testes_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002104", + "label": "Apnea" + } + }, + { + "type": { + "id": "HP:0008733", + "label": "Dysplastic testes" + } + }, + { + "type": { + "id": "HP:0000033", + "label": "Ambiguous genitalia, male" + } + }, + { + "type": { + "id": "HP:0002020", + "label": "Gastroesophageal reflux" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ], + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0001308", + "label": "Tongue fasciculations" + } + }, + { + "type": { + "id": "HP:0025425", + "label": "Laryngospasm" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0008872", + "label": "Feeding difficulties in infancy" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0006543", + "label": "Cardiorespiratory arrest" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0008708", + "label": "Partial development of the penile shaft" + } + }, + { + "type": { + "id": "HP:0033258", + "label": "Sudden unexpected death in epilepsy" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0025429", + "label": "Abnormal cry" + } + }, + { + "type": { + "id": "HP:0002045", + "label": "Hypothermia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0002267", + "label": "Exaggerated startle response" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608800", + "label": "Sudden infant death with dysgenesis of the testes syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:32:07.800604Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Sugarman_brachydactyly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sugarman_brachydactyly_patient_1.json new file mode 100644 index 000000000..c068783ea --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sugarman_brachydactyly_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "sugarman_brachydactyly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005894", + "label": "Double first metacarpals" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:272150", + "label": "Sugarman brachydactyly" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:37.039885Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Suleiman_El_Hattab_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Suleiman_El_Hattab_syndrome_patient_1.json new file mode 100644 index 000000000..864d637f8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Suleiman_El_Hattab_syndrome_patient_1.json @@ -0,0 +1,249 @@ +{ + "id": "suleiman-el-hattab_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0000629", + "label": "Periorbital fullness" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0030939", + "label": "Palpebral thickening" + } + }, + { + "type": { + "id": "HP:0000411", + "label": "Protruding ear" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0002205", + "label": "Recurrent respiratory infections" + } + }, + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0000126", + "label": "Hydronephrosis" + } + }, + { + "type": { + "id": "HP:0000396", + "label": "Overfolded helix" + } + }, + { + "type": { + "id": "HP:0011335", + "label": "Frontal hirsutism" + } + }, + { + "type": { + "id": "HP:0002057", + "label": "Prominent glabella" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0000664", + "label": "Synophrys" + } + }, + { + "type": { + "id": "HP:0000954", + "label": "Single transverse palmar crease" + } + }, + { + "type": { + "id": "HP:0002553", + "label": "Highly arched eyebrow" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + } + }, + { + "type": { + "id": "HP:0000154", + "label": "Wide mouth" + } + }, + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0000286", + "label": "Epicanthus" + } + }, + { + "type": { + "id": "HP:0010442", + "label": "Polydactyly" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0000574", + "label": "Thick eyebrow" + } + }, + { + "type": { + "id": "HP:0100814", + "label": "Blue nevus" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0000319", + "label": "Smooth philtrum" + } + }, + { + "type": { + "id": "HP:0002307", + "label": "Drooling" + } + }, + { + "type": { + "id": "HP:0000540", + "label": "Hypermetropia" + } + }, + { + "type": { + "id": "HP:0001655", + "label": "Patent foramen ovale" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618950", + "label": "Suleiman-El-Hattab syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:00:03.131477Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Sulfhemoglobinemia_congenital_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sulfhemoglobinemia_congenital_patient_1.json new file mode 100644 index 000000000..2ae0df591 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sulfhemoglobinemia_congenital_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "sulfhemoglobinemia,_congenital", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001871", + "label": "Abnormality of blood and blood-forming tissues" + } + } + ], + "diseases": [ + { + "term": { + "id": 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/dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sulfide_quinone_oxidoreductase_deficiency_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "sulfide:quinone_oxidoreductase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003236", + "label": "Elevated circulating creatine kinase concentration" + } + }, + { + "type": { + "id": "HP:0006846", + "label": "Acute encephalopathy" + }, + "modifiers": [ + { + "id": "HP:0025215", + "label": "Triggered by febrile illness" + } + ] + }, + { + "type": { + "id": "HP:0001941", + "label": "Acidosis" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619221", + "label": "Sulfide:quinone oxidoreductase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T17:58:48.534254Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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"superior_transverse_scapular_ligament,_calcification_of,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012216", + "label": "Entrapment neuropathy of suprascapular nerve" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601708", + "label": "Superior transverse scapular ligament, calcification of, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T19:00:23.810331Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Suprabulbar_paresis_congenital_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Suprabulbar_paresis_congenital_patient_1.json new file mode 100644 index 000000000..351d08a35 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Suprabulbar_paresis_congenital_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "suprabulbar_paresis,_congenital", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001324", + "label": "Muscle weakness" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:185480", + "label": "Suprabulbar paresis, congenital" + } + } + ], + "metaData": { + "created": "2024-06-11T18:10:28.131082Z", + "createdBy": 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"supranuclear_palsy,_progressive,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002141", + "label": "Gait imbalance" + } + }, + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + } + }, + { + "type": { + "id": "HP:0002446", + "label": "Astrocytosis" + } + }, + { + "type": { + "id": "HP:0002464", + "label": "Spastic dysarthria" + } + }, + { + "type": { + "id": "HP:0002396", + "label": "Cogwheel rigidity" + } + }, + { + "type": { + "id": "HP:0000658", + "label": "Eyelid apraxia" + } + }, + { + "type": { + "id": "HP:0002300", + "label": "Mutism" + } + }, + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601104", + "label": "Supranuclear palsy, progressive, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:36:47.686954Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"type": { + "id": "HP:0000605", + "label": "Supranuclear gaze palsy" + } + }, + { + "type": { + "id": "HP:0002067", + "label": "Bradykinesia" + } + }, + { + "type": { + "id": "HP:0002529", + "label": "Neuronal loss in central nervous system" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + }, + { + "type": { + "id": "HP:0000622", + "label": "Blurred vision" + } + }, + { + "type": { + "id": "HP:0033411", + "label": "Lower extremity akinesia" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0000651", + "label": "Diplopia" + } + }, + { + "type": { + "id": "HP:0033692", + "label": "Declarative memory loss" + } + }, + { + "type": { + "id": "HP:0002011", + "label": "Morphological central nervous system abnormality" + } + }, + { + "type": { + "id": "HP:0100851", + "label": "Abnormal emotion" + } + }, + { + "type": { + "id": "HP:0031162", + "label": "Impaired 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Supranuclear_palsy_progressive_atypical_patient_1.json new file mode 100644 index 000000000..1057864d3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Supranuclear_palsy_progressive_atypical_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "supranuclear_palsy,_progressive_atypical", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012477", + "label": "Vocal tremor" + } + }, + { + "type": { + "id": "HP:0001300", + "label": "Parkinsonism" + } + }, + { + "type": { + "id": "HP:0030180", + "label": "Oppenheim reflex" + } + }, + { + "type": { + "id": "HP:0000597", + "label": "Ophthalmoparesis" + } + }, + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:260540", + "label": "Supranuclear palsy, progressive atypical" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:29.238372Z", + 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"supravalvular_aortic_stenosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030966", + "label": "Abnormal pulmonary artery morphology" + } + }, + { + "type": { + "id": "HP:0004381", + "label": "Supravalvular aortic stenosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:185500", + "label": "Supravalvular aortic stenosis" + } + } + ], + "metaData": { + "created": "2024-06-11T22:55:41.041307Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Surfactant_metabolism_dysfunction_pulmonary_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Surfactant_metabolism_dysfunction_pulmonary_1_patient_1.json new file mode 100644 index 000000000..f64485e8c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Surfactant_metabolism_dysfunction_pulmonary_1_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "surfactant_metabolism_dysfunction,_pulmonary,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002643", + "label": "Neonatal respiratory distress" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0002104", + "label": "Apnea" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0002094", + "label": 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}, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Surfactant_metabolism_dysfunction_pulmonary_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Surfactant_metabolism_dysfunction_pulmonary_2_patient_1.json new file mode 100644 index 000000000..be4a37569 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Surfactant_metabolism_dysfunction_pulmonary_2_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "surfactant_metabolism_dysfunction,_pulmonary,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002108", + "label": "Spontaneous pneumothorax" + } + }, + { + "type": { + "id": "HP:0025394", + "label": 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"https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Surfactant_metabolism_dysfunction_pulmonary_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Surfactant_metabolism_dysfunction_pulmonary_3_patient_1.json new file mode 100644 index 000000000..6a753916d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Surfactant_metabolism_dysfunction_pulmonary_3_patient_1.json @@ -0,0 +1,153 @@ +{ + "id": "surfactant_metabolism_dysfunction,_pulmonary,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025179", + "label": "Ground-glass opacification" + } + }, + { + "type": { + "id": "HP:0025390", + "label": "Reticular pattern on pulmonary HRCT" + } + }, + { + "type": { + "id": "HP:0002643", + "label": "Neonatal respiratory distress" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", 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"namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Surfactant_metabolism_dysfunction_pulmonary_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Surfactant_metabolism_dysfunction_pulmonary_4_patient_1.json new file mode 100644 index 000000000..25ac405fc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Surfactant_metabolism_dysfunction_pulmonary_4_patient_1.json @@ -0,0 +1,86 @@ +{ + "id": "surfactant_metabolism_dysfunction,_pulmonary,_4", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P12Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0045051", + "label": "Decreased DLCO" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0032341", + "label": "Reduced forced vital capacity" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0025179", + "label": "Ground-glass opacification" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300770", + "label": "Surfactant metabolism dysfunction, pulmonary, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T23:22:20.173967Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": 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"http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Sveinsson_chorioretinal_atrophy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sveinsson_chorioretinal_atrophy_patient_1.json new file mode 100644 index 000000000..7093b504d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sveinsson_chorioretinal_atrophy_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "sveinsson_chorioretinal_atrophy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:108985", + "label": "Sveinsson chorioretinal atrophy" + } + } + ], + "metaData": { + "created": "2024-06-11T18:56:37.614126Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Sweeney_Cox_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sweeney_Cox_syndrome_patient_1.json new file mode 100644 index 000000000..52ac60244 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Sweeney_Cox_syndrome_patient_1.json @@ -0,0 +1,153 @@ +{ + "id": "sweeney-cox_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0008551", + "label": "Microtia" + } + }, + { + "type": { + "id": "HP:0005487", + "label": "Prominent metopic ridge" + } + }, + { + "type": { + "id": "HP:0001776", + "label": "Bilateral talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0001321", + "label": "Cerebellar hypoplasia" + } + }, + { + "type": { + "id": "HP:0005469", + "label": "Flat occiput" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0000774", + "label": "Narrow chest" + } + }, + { + "type": { + "id": "HP:0000160", + "label": "Narrow mouth" + } + }, + { + "type": { + "id": "HP:0009882", + "label": "Short distal phalanx of finger" + } + }, + { + "type": { + "id": "HP:0000455", + "label": "Broad nasal tip" + } + }, + { + "type": { + "id": "HP:0010709", + "label": "2-4 finger syndactyly" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0000322", + "label": "Short philtrum" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0001780", + "label": "Abnormal toe morphology" + } + }, + { + "type": { + "id": "HP:0008689", + "label": "Bilateral cryptorchidism" + } + }, + { + "type": { + "id": "HP:0000430", + "label": "Underdeveloped nasal alae" + } + }, + { + "type": { + "id": "HP:0000378", + "label": "Cupped ear" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617746", + "label": "Sweeney-Cox syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:49:37.614419Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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{ + "id": "HP:0009703", + "label": "Synostosis involving the 1st metacarpal" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:185650", + "label": "Symphalangism, c. s. 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Symphalangism_distal_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "symphalangism,_distal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001049", + "label": "Absent dorsal skin creases over affected joints" + } + }, + { + "type": { + "id": "HP:0001798", + "label": "Anonychia" + } + }, + { + "type": { + "id": "HP:0009426", + "label": "Distal/middle symphalangism of 3rd finger" + } + }, + { + "type": { + "id": "HP:0005863", + "label": "Type E brachydactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:185700", + "label": "Symphalangism, distal" + } + } + ], + "metaData": { + "created": "2024-06-11T23:12:20.114572Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Symphalangism_distal_with_microdontia_dental_pulp_stones_and_narrowedzygomatic_arch_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Symphalangism_distal_with_microdontia_dental_pulp_stones_and_narrowedzygomatic_arch_patient_1.json new file mode 100644 index 000000000..f4d3d68fb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Symphalangism_distal_with_microdontia_dental_pulp_stones_and_narrowedzygomatic_arch_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "symphalangism,_distal,_with_microdontia,_dental_pulp_stones,_and_narrowedzygomatic_arch", + 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+ } + ], + "metaData": { + "created": "2024-06-11T21:04:36.711384Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Symphalangism_proximal_1A_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Symphalangism_proximal_1A_patient_1.json new file mode 100644 index 000000000..9cd01934a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Symphalangism_proximal_1A_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "symphalangism,_proximal,_1a", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005880", + "label": "Metacarpophalangeal synostosis" + } + }, + { + "type": { + "id": "HP:0006152", + "label": "Proximal symphalangism of hands" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:185800", + "label": "Symphalangism, proximal, 1A" + } + } + ], + "metaData": { + "created": "2024-06-11T20:21:01.683553Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Symphalangism_proximal_1B_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Symphalangism_proximal_1B_patient_1.json new file mode 100644 index 000000000..b7fd572b7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Symphalangism_proximal_1B_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "symphalangism,_proximal,_1b", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009177", + "label": "Proximal/middle symphalangism of 5th finger" + } + }, + { + "type": { + "id": "HP:0009536", + "label": "Short 2nd finger" + } + }, + { + "type": { + "id": "HP:0005769", + "label": "Fifth finger distal phalanx clinodactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Syncope_familial_vasovagal_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "syncope,_familial_vasovagal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002321", + "label": "Vertigo" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609289", + "label": "Syncope, familial vasovagal" + } + } + ], + "metaData": { + "created": "2024-06-11T22:24:14.346975Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Syndactyly_Polydactyly_Earlobe_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Syndactyly_Polydactyly_Earlobe_syndrome_patient_1.json new file mode 100644 index 000000000..b0b43dc57 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Syndactyly_Polydactyly_Earlobe_syndrome_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "syndactyly-polydactyly-earlobe_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001841", + "label": "Preaxial foot polydactyly" + } + }, + { + "type": { + "id": "HP:0001837", + "label": "Broad toe" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:186350", + "label": "Syndactyly-Polydactyly-Earlobe syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:32:43.916528Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Syndactyly_mesoaxial_synostotic_with_phalangeal_reduction_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Syndactyly_mesoaxial_synostotic_with_phalangeal_reduction_patient_1.json new file mode 100644 index 000000000..34ff5cb67 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Syndactyly_mesoaxial_synostotic_with_phalangeal_reduction_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "syndactyly,_mesoaxial_synostotic,_with_phalangeal_reduction", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009601", + "label": "Aplasia/Hypoplasia of the thumb" + } + }, + { + "type": { + "id": "HP:0006097", + "label": "3-4 finger syndactyly" + } + }, + { + "type": { + "id": "HP:0000954", + "label": "Single transverse palmar crease" + }, + "modifiers": [ + { + "id": "HP:0012832", + "label": "Bilateral" + } + ] + }, + { + "type": { + "id": "HP:0005918", + "label": "Abnormal finger phalanx morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609432", + "label": "Syndactyly, mesoaxial synostotic, with phalangeal reduction" + } + } + ], + "metaData": { + "created": "2024-06-11T19:00:38.402601Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Syndactyly_type_III_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Syndactyly_type_III_patient_1.json new file mode 100644 index 000000000..c822191e1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Syndactyly_type_III_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "syndactyly,_type_iii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010705", + "label": "4-5 finger syndactyly" + } + }, + { + "type": { + "id": "HP:0009802", + "label": "Aplasia of the phalanges of the hand" + } + }, + { + "type": { + "id": "HP:0009226", + "label": "Short proximal phalanx of the 5th finger" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:186100", + "label": "Syndactyly, type III" + } + } + ], + "metaData": { + "created": "2024-06-11T20:11:48.982681Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Syndactyly_type_IV_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Syndactyly_type_IV_patient_1.json new file mode 100644 index 000000000..9cf74c87d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Syndactyly_type_IV_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "syndactyly,_type_iv", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001501", + "label": "6 metacarpals" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:186200", + "label": "Syndactyly, type IV" + } + } + ], + "metaData": { + "created": "2024-06-11T18:14:38.160525Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Syndactyly_type_V_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Syndactyly_type_V_patient_1.json new file mode 100644 index 000000000..512b78367 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Syndactyly_type_V_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "syndactyly,_type_v", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001032", + "label": "Absent distal interphalangeal creases" + } + }, + { + "type": { + "id": "HP:0004692", + "label": "4-5 toe syndactyly" + } + }, + { + "type": { + "id": "HP:0011297", + "label": "Abnormal digit morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:186300", + "label": "Syndactyly, type V" + } + } + ], + "metaData": { + "created": "2024-06-11T19:26:44.027318Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Syndesmodysplasic_dwarfism_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Syndesmodysplasic_dwarfism_patient_1.json new file mode 100644 index 000000000..51779ea82 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Syndesmodysplasic_dwarfism_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "syndesmodysplasic_dwarfism", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003510", + "label": "Severe short stature" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:272450", + "label": "Syndesmodysplasic dwarfism" + } + } + ], + "metaData": { + "created": "2024-06-12T00:50:21.987030Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Syndromic_X_linked_intellectual_disability_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Syndromic_X_linked_intellectual_disability_7_patient_1.json new file mode 100644 index 000000000..5ada75549 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Syndromic_X_linked_intellectual_disability_7_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "syndromic_x-linked_intellectual_disability_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300218", + "label": "Syndromic X-linked intellectual disability 7" + } + } + ], + "metaData": { + "created": "2024-06-11T18:45:08.686889Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Synostoses_tarsal_carpal_and_digital_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Synostoses_tarsal_carpal_and_digital_patient_1.json new file mode 100644 index 000000000..0b6e18bd2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Synostoses_tarsal_carpal_and_digital_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "synostoses,_tarsal,_carpal,_and_digital", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001798", + "label": "Anonychia" + } + }, + { + "type": { + "id": "HP:0010034", + "label": "Short 1st metacarpal" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:186400", + "label": "Synostoses, tarsal, carpal, and digital" + } + } + ], + "metaData": { + "created": "2024-06-11T19:00:19.895313Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Synostosis_carpal_with_dysplastic_elbow_joints_and_brachydactyly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Synostosis_carpal_with_dysplastic_elbow_joints_and_brachydactyly_patient_1.json new file mode 100644 index 000000000..d15209745 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Synostosis_carpal_with_dysplastic_elbow_joints_and_brachydactyly_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "synostosis,_carpal,_with_dysplastic_elbow_joints_and_brachydactyly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001191", + "label": "Abnormal carpal morphology" + } + }, + { + "type": { + "id": "HP:0001233", + "label": "2-3 finger syndactyly" + } + }, + { + "type": { + "id": "HP:0001167", + "label": "Abnormal finger morphology" + } + }, + { + "type": { + "id": "HP:0006190", + "label": "Radially deviated wrists" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:186550", + "label": "Synostosis, carpal, with dysplastic elbow joints and brachydactyly" + } + } + ], + "metaData": { + "created": "2024-06-11T22:48:45.431537Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Synovial_chondromatosis_familial_with_dwarfism_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Synovial_chondromatosis_familial_with_dwarfism_patient_1.json new file mode 100644 index 000000000..a8f781bf2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Synovial_chondromatosis_familial_with_dwarfism_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "synovial_chondromatosis,_familial,_with_dwarfism", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002829", + "label": "Arthralgia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:186575", + "label": "Synovial chondromatosis, familial, with dwarfism" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:34.334118Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Synpolydactyly_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Synpolydactyly_1_patient_1.json new file mode 100644 index 000000000..e11315822 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Synpolydactyly_1_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "synpolydactyly_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006145", + "label": "Central Y-shaped metacarpal" + } + }, + { + "type": { + "id": "HP:0001501", + "label": "6 metacarpals" + } + }, + { + "type": { + "id": "HP:0003795", + "label": "Short middle phalanx of toe" + } + }, + { + "type": { + "id": "HP:0004220", + "label": "Short middle phalanx of the 5th finger" + } + }, + { + "type": { + "id": "HP:0009953", + "label": "Partial duplication of the middle phalanx of the 2nd finger" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + }, + { + "type": { + "id": "HP:0005817", + "label": "Postaxial polysyndactyly of foot" + } + }, + { + "type": { + "id": "HP:0009185", + "label": "Contracture of the proximal interphalangeal joint of the 5th finger" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:186000", + "label": "Synpolydactyly 1" + } + } + ], + "metaData": { + "created": "2024-06-11T17:58:30.387065Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Synpolydactyly_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Synpolydactyly_2_patient_1.json new file mode 100644 index 000000000..29023e8ae --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Synpolydactyly_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "synpolydactyly_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010442", + "label": "Polydactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608180", + "label": "Synpolydactyly 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:59:02.787261Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Syringomas_multiple_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Syringomas_multiple_patient_1.json new file mode 100644 index 000000000..be29a0fb5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Syringomas_multiple_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "syringomas,_multiple", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000951", + "label": "Abnormality of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:186600", + "label": "Syringomas, multiple" + } + } + ], + "metaData": { + "created": "2024-06-11T18:56:16.755792Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Syringomyelia_isolated_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Syringomyelia_isolated_patient_1.json new file mode 100644 index 000000000..b8b6c635a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Syringomyelia_isolated_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "syringomyelia,_isolated", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0007099", + "label": "Chiari type I malformation" + } + }, + { + "type": { + "id": "HP:0030833", + "label": "Neck pain" + } + }, + { + "type": { + "id": "HP:0003487", + "label": "Babinski sign" + } + }, + { + "type": { + "id": "HP:0002699", + "label": "Abnormal foramen magnum morphology" + } + }, + { + "type": { + "id": "HP:0002317", + "label": "Unsteady gait" + } + }, + { + "type": { + "id": "HP:0005878", + "label": "Enlarged sagittal diameter of the cervical canal" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:186700", + "label": "Syringomyelia, isolated" + } + } + ], + "metaData": { + "created": "2024-06-11T20:54:09.896155Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Systemic_lupus_erythematosus_16_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Systemic_lupus_erythematosus_16_patient_1.json new file mode 100644 index 000000000..df1e38b06 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Systemic_lupus_erythematosus_16_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "systemic_lupus_erythematosus_16", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005421", + "label": "Decreased circulating complement C3 concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614420", + "label": "Systemic lupus erythematosus 16" + } + } + ], + "metaData": { + "created": "2024-06-11T22:36:15.219714Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Systemic_lupus_erythematosus_17_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Systemic_lupus_erythematosus_17_patient_1.json new file mode 100644 index 000000000..d7d230b15 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Systemic_lupus_erythematosus_17_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "systemic_lupus_erythematosus_17", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001882", + "label": "Leukopenia" + } + }, + { + "type": { + "id": "HP:0003493", + "label": "Antinuclear antibody positivity" + } + }, + { + "type": { + "id": "HP:0001653", + "label": "Mitral regurgitation" + } + }, + { + "type": { + "id": "HP:0100735", + "label": "Hypertensive crisis" + } + }, + { + "type": { + "id": "HP:0100653", + "label": "Optic neuritis" + } + }, + { + "type": { + "id": "HP:0005059", + "label": "Arthralgia/arthritis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301080", + "label": "Systemic lupus erythematosus 17" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:27.957970Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Systemic_lupus_erythematosus_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Systemic_lupus_erythematosus_patient_1.json new file mode 100644 index 000000000..d591a1338 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Systemic_lupus_erythematosus_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "systemic_lupus_erythematosus", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001701", + "label": "Pericarditis" + } + }, + { + "type": { + "id": "HP:0002102", + "label": "Pleuritis" + } + }, + { + "type": { + "id": "HP:0032679", + "label": "Focal non-motor seizure" + } + }, + { + "type": { + "id": "HP:0012579", + "label": "Minimal change glomerulonephritis" + } + }, + { + "type": { + "id": "HP:0002960", + "label": "Autoimmunity" + } + }, + { + "type": { + "id": "HP:0001882", + "label": "Leukopenia" + } + }, + { + "type": { + "id": "HP:0001930", + "label": "Nonspherocytic hemolytic anemia" + } + }, + { + "type": { + "id": "HP:0000709", + "label": "Psychosis" + } + }, + { + "type": { + "id": "HP:0012211", + "label": "Abnormal renal physiology" + } + }, + { + "type": { + "id": "HP:0011354", + "label": "Generalized abnormality of skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:152700", + "label": "Systemic lupus erythematosus" + } + } + ], + "metaData": { + "created": "2024-06-11T22:59:42.930054Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Systemic_lupus_erythematosus_susceptibility_to_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Systemic_lupus_erythematosus_susceptibility_to_6_patient_1.json new file mode 100644 index 000000000..cabae0126 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Systemic_lupus_erythematosus_susceptibility_to_6_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "systemic_lupus_erythematosus,_susceptibility_to,_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000992", + "label": "Cutaneous photosensitivity" + } + }, + { + "type": { + "id": "HP:0012647", + "label": "Abnormal inflammatory response" + } + }, + { + "type": { + "id": "HP:0410008", + "label": "Abnormality of the peripheral nervous system" + } + }, + { + "type": { + "id": "HP:0032022", + "label": "Eosinophilic dermal infiltration" + } + }, + { + "type": { + "id": "HP:0100763", + "label": "Abnormality of the lymphatic system" + } + }, + { + "type": { + "id": "HP:0040313", + "label": "Oligoarthritis" + } + }, + { + "type": { + "id": "HP:0002102", + "label": "Pleuritis" + } + }, + { + "type": { + "id": "HP:0002960", + "label": "Autoimmunity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609939", + "label": "Systemic lupus erythematosus, susceptibility to, 6" + } + } + ], + "metaData": { + "created": "2024-06-11T19:33:53.215386Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/TARP_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/TARP_syndrome_patient_1.json new file mode 100644 index 000000000..83f6f6eca --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/TARP_syndrome_patient_1.json @@ -0,0 +1,207 @@ +{ + "id": "tarp_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006191", + "label": "Deep palmar crease" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0008551", + "label": "Microtia" + } + }, + { + "type": { + "id": "HP:0002305", + "label": "Athetosis" + } + }, + { + "type": { + "id": "HP:0001508", + "label": "Failure to thrive" + } + }, + { + "type": { + "id": "HP:0000162", + "label": "Glossoptosis" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0001320", + "label": "Cerebellar vermis hypoplasia" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0001562", + "label": "Oligohydramnios" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0000126", + "label": "Hydronephrosis" + } + }, + { + "type": { + "id": "HP:0009891", + "label": "Underdeveloped supraorbital ridges" + } + }, + { + "type": { + "id": "HP:0030084", + "label": "Clinodactyly" + } + }, + { + "type": { + "id": "HP:0000085", + "label": "Horseshoe kidney" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0000395", + "label": "Prominent antihelix" + } + }, + { + "type": { + "id": "HP:0012725", + "label": "Cutaneous syndactyly" + } + }, + { + "type": { + "id": "HP:0012745", + "label": "Short palpebral fissure" + } + }, + { + "type": { + "id": "HP:0000358", + "label": "Posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal defect" + } + }, + { + "type": { + "id": "HP:0001399", + "label": "Hepatic failure" + } + }, + { + "type": { + "id": "HP:0001838", + "label": "Rocker bottom foot" + } + }, + { + "type": { + "id": "HP:0000239", + "label": "Large fontanelles" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:311900", + "label": "TARP syndrome" + } + } + ], + "metaData": { + "created": "2024-06-12T02:19:07.430691Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": 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], + "diseases": [ + { + "term": { + "id": "OMIM:272700", + "label": "TAURODONTISM" + } + } + ], + "metaData": { + "created": "2024-06-11T18:32:07.584727Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/THIOPURINE_S_METHYLTRANSFERASE_DEFICIENCY_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/THIOPURINE_S_METHYLTRANSFERASE_DEFICIENCY_patient_1.json new file mode 100644 index 000000000..e4007947d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/THIOPURINE_S_METHYLTRANSFERASE_DEFICIENCY_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thiopurine_s-methyltransferase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001871", + "label": "Abnormality of blood and blood-forming tissues" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610460", + "label": "THIOPURINE S-METHYLTRANSFERASE DEFICIENCY" + } + } + ], + "metaData": { + "created": "2024-06-11T19:45:41.182222Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/THREONINEMIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/THREONINEMIA_patient_1.json new file mode 100644 index 000000000..0dff7aced --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/THREONINEMIA_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "threoninemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003354", + "label": "Hyperthreoninemia" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:273770", + "label": "THREONINEMIA" + } + } + ], + "metaData": { + "created": "2024-06-11T23:48:16.633910Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/TORTICOLLIS_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/TORTICOLLIS_patient_1.json new file mode 100644 index 000000000..1803a5476 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/TORTICOLLIS_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "torticollis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000473", + "label": "Torticollis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:189600", + "label": "TORTICOLLIS" + } + } + ], + "metaData": { + "created": "2024-06-11T21:10:00.888503Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/TRACHEOBRONCHOMEGALY_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/TRACHEOBRONCHOMEGALY_patient_1.json new file mode 100644 index 000000000..52e93be88 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/TRACHEOBRONCHOMEGALY_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "tracheobronchomegaly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006509", + "label": "Diverticulosis of trachea" + } + }, + { + "type": { + "id": "HP:0011947", + "label": "Respiratory tract infection" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:275300", + "label": "TRACHEOBRONCHOMEGALY" + } + } + ], + "metaData": { + "created": "2024-06-11T23:36:00.763348Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/TRICHOTILLOMANIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/TRICHOTILLOMANIA_patient_1.json new file mode 100644 index 000000000..8d03be21a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/TRICHOTILLOMANIA_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "trichotillomania", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012167", + "label": "Hair-pulling" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613229", + "label": "TRICHOTILLOMANIA" + } + } + ], + "metaData": { + "created": "2024-06-11T21:42:58.778384Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/TRISTICHIASIS_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/TRISTICHIASIS_patient_1.json new file mode 100644 index 000000000..38b14f358 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/TRISTICHIASIS_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "tristichiasis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008009", + "label": "Three rows of eyelashes" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:190800", + "label": "TRISTICHIASIS" + } + } + ], + "metaData": { + "created": "2024-06-11T22:01:29.837682Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/TRITANOPIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/TRITANOPIA_patient_1.json new file mode 100644 index 000000000..b290d1100 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/TRITANOPIA_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "tritanopia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007641", + "label": "Dyschromatopsia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:190900", + "label": "TRITANOPIA" + } + } + ], + "metaData": { + "created": "2024-06-12T00:13:49.448436Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/TYROSINOSIS_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/TYROSINOSIS_patient_1.json new file mode 100644 index 000000000..29aa7b252 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/TYROSINOSIS_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "tyrosinosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003231", + "label": "Hypertyrosinemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:276800", + "label": "TYROSINOSIS" + } + } + ], + "metaData": { + "created": "2024-06-11T22:49:56.411647Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/T_CELL_IMMUNODEFICIENCY_CONGENITAL_ALOPECIA_AND_NAIL_DYSTROPHY_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/T_CELL_IMMUNODEFICIENCY_CONGENITAL_ALOPECIA_AND_NAIL_DYSTROPHY_patient_1.json new file mode 100644 index 000000000..b6cd47011 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/T_CELL_IMMUNODEFICIENCY_CONGENITAL_ALOPECIA_AND_NAIL_DYSTROPHY_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "t-cell_immunodeficiency,_congenital_alopecia,_and_nail_dystrophy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005352", + "label": "Severe T-cell immunodeficiency" + } + }, + { + "type": { + "id": "HP:0001803", + "label": "Nail pits" + } + }, + { + "type": { + "id": "HP:0001807", + "label": "Ridged nail" + } + }, + { + "type": { + "id": "HP:0008165", + "label": "Decreased helper T cell proportion" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601705", + "label": "T-CELL IMMUNODEFICIENCY, CONGENITAL ALOPECIA, AND NAIL DYSTROPHY" + } + } + ], + "metaData": { + "created": "2024-06-11T23:01:56.405870Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/T_SUBSTANCE_ANOMALY_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/T_SUBSTANCE_ANOMALY_patient_1.json new file mode 100644 index 000000000..f0da23914 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/T_SUBSTANCE_ANOMALY_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "t-substance_anomaly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:276200", + "label": "T-SUBSTANCE ANOMALY" + } + } + ], + "metaData": { + "created": "2024-06-11T18:32:15.384638Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/T_cell_lymphoma_subcutaneous_panniculitis_like_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/T_cell_lymphoma_subcutaneous_panniculitis_like_patient_1.json new file mode 100644 index 000000000..9aabfdcc2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/T_cell_lymphoma_subcutaneous_panniculitis_like_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "t-cell_lymphoma,_subcutaneous_panniculitis-like", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000282", + "label": "Facial edema" + } + }, + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0002665", + "label": "Lymphoma" + } + }, + { + "type": { + "id": "HP:0006268", + "label": "Fluctuating splenomegaly" + } + }, + { + "type": { + "id": "HP:0012647", + "label": "Abnormal inflammatory response" + } + }, + { + "type": { + "id": "HP:0001915", + "label": "Aplastic anemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618398", + "label": "T-cell lymphoma, subcutaneous panniculitis-like" + } + } + ], + "metaData": { + "created": "2024-06-11T20:54:27.325091Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/T_cell_lymphopenia_infantile_with_or_without_nail_dystrophy_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/T_cell_lymphopenia_infantile_with_or_without_nail_dystrophy_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..47f0316de --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/T_cell_lymphopenia_infantile_with_or_without_nail_dystrophy_autosomal_dominant_patient_1.json @@ -0,0 +1,92 @@ +{ + "id": "t-cell_lymphopenia,_infantile,_with_or_without_nail_dystrophy,_autosomal_dominant", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005403", + "label": "T lymphocytopenia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0002788", + "label": "Recurrent upper respiratory tract infections" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + }, + { + "type": { + "id": "HP:0031545", + "label": "Abnormally low T cell receptor excision circle level" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0002090", + "label": "Pneumonia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618806", + "label": "T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T22:02:14.732283Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Takayasu_arteritis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Takayasu_arteritis_patient_1.json new file mode 100644 index 000000000..a9c583b91 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Takayasu_arteritis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "takayasu_arteritis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012089", + "label": "Arteritis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:207600", + "label": "Takayasu arteritis" + } + } + ], + "metaData": { + "created": "2024-06-11T18:37:32.918109Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Takenouchi_Kosaki_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Takenouchi_Kosaki_syndrome_patient_1.json new file mode 100644 index 000000000..49b446ebc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Takenouchi_Kosaki_syndrome_patient_1.json @@ -0,0 +1,308 @@ +{ + "id": "takenouchi-kosaki_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000126", + "label": "Hydronephrosis" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0001272", + "label": "Cerebellar atrophy" + } + }, + { + "type": { + "id": "HP:0000253", + "label": "Progressive microcephaly" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0000689", + "label": "Dental malocclusion" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0001643", + "label": "Patent ductus arteriosus" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0012385", + "label": "Camptodactyly" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0002120", + "label": "Cerebral cortical atrophy" + } + }, + { + "type": { + "id": "HP:0001290", + "label": "Generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0020218", + "label": "Focal aware atonic seizure" + } + }, + { + "type": { + "id": "HP:0012443", + "label": "Abnormal brain morphology" + } + }, + { + "type": { + "id": "HP:0000454", + "label": "Flared nostrils" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0000163", + "label": "Abnormal oral cavity morphology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0031719", + "label": "True distance exotropia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0000154", + "label": "Wide mouth" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + }, + { + "type": { + "id": "HP:0007958", + "label": "Optic atrophy from cranial nerve compression" + } + }, + { + "type": { + "id": "HP:0001902", + "label": "Giant platelets" + } + }, + { + "type": { + "id": "HP:0001320", + "label": "Cerebellar vermis hypoplasia" + } + }, + { + "type": { + "id": "HP:0040185", + "label": "Macrothrombocytopenia" + } + }, + { + "type": { + "id": "HP:0000319", + "label": "Smooth philtrum" + } + }, + { + "type": { + "id": "HP:0004788", + "label": "Intestinal lymphedema" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0000322", + "label": "Short philtrum" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0002553", + "label": "Highly arched eyebrow" + } + }, + { + "type": { + "id": "HP:0032101", + "label": "Unusual infection" + } + }, + { + "type": { + "id": "HP:0004626", + "label": "Lumbar scoliosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616737", + "label": "Takenouchi-Kosaki syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:08:07.515573Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Talonavicular_coalition_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Talonavicular_coalition_patient_1.json new file mode 100644 index 000000000..bbd16c3f3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Talonavicular_coalition_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "talonavicular_coalition", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009177", + "label": "Proximal/middle symphalangism of 5th finger" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:186750", + "label": "Talonavicular coalition" + } + } + ], + "metaData": { + "created": "2024-06-11T23:20:29.922390Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tangier_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tangier_disease_patient_1.json new file mode 100644 index 000000000..ec632a41d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tangier_disease_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "tangier_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005129", + "label": "Congenital hypertrophy of left ventricle" + } + }, + { + "type": { + "id": "HP:0031799", + "label": "Decreased circulating apolipoprotein A-I concentration" + } + }, + { + "type": { + "id": "HP:0000531", + "label": "Corneal crystals" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:205400", + "label": "Tangier disease" + } + } + ], + "metaData": { + "created": "2024-06-11T17:55:41.137319Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tardive_dyskinesia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tardive_dyskinesia_patient_1.json new file mode 100644 index 000000000..d938c8302 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tardive_dyskinesia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "tardive_dyskinesia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031943", + "label": "Akathisia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:272620", + "label": "Tardive dyskinesia" + } + } + ], + "metaData": { + "created": "2024-06-11T21:11:52.722548Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tarsal_Carpal_coalition_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tarsal_Carpal_coalition_syndrome_patient_1.json new file mode 100644 index 000000000..463b91bc1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tarsal_Carpal_coalition_syndrome_patient_1.json @@ -0,0 +1,98 @@ +{ + "id": "tarsal-carpal_coalition_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003041", + "label": "Humeroradial synostosis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0001204", + "label": "Distal symphalangism of hands" + } + }, + { + "type": { + "id": "HP:0002967", + "label": "Cubitus valgus" + } + }, + { + "type": { + "id": "HP:0009381", + "label": "Short finger" + } + }, + { + "type": { + "id": "HP:0009702", + "label": "Carpal synostosis" + } + }, + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + } + }, + { + "type": { + "id": "HP:0000364", + "label": "Hearing abnormality" + } + }, + { + "type": { + "id": "HP:0009466", + "label": "Radial deviation of finger" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:186570", + "label": "Tarsal-Carpal coalition syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:00:33.259967Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tatsumi_factor_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tatsumi_factor_deficiency_patient_1.json new file mode 100644 index 000000000..8cb361d9b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tatsumi_factor_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "tatsumi_factor_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003010", + "label": "Prolonged bleeding time" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:272650", + "label": "Tatsumi factor deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T23:43:51.964071Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"HP:0000574", + "label": "Thick eyebrow" + } + }, + { + "type": { + "id": "HP:0000256", + "label": "Macrocephaly" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0002000", + "label": "Short columella" + } + }, + { + "type": { + "id": "HP:0045025", + "label": "Narrow palpebral fissure" + } + }, + { + "type": { + "id": "HP:0001548", + "label": "Overgrowth" + } + }, + { + "type": { + "id": "HP:0002002", + "label": "Deep philtrum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615879", + "label": "Tatton-Brown-Rahman syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:32:24.711505Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tay_Sachs_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tay_Sachs_disease_patient_1.json new file mode 100644 index 000000000..0d3898714 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tay_Sachs_disease_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "tay-sachs_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004345", + "label": "Ganglioside accumulation" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0006852", + "label": "Episodic generalized hypotonia" + } + }, + { + "type": { + "id": "HP:0002267", + "label": "Exaggerated startle response" + } + }, + { + "type": { + "id": "HP:0006895", + "label": "Lower limb hypertonia" + } + }, + { + "type": { + "id": "HP:0002197", + "label": "Generalized-onset seizure" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:0000727", + "label": "Frontal lobe dementia" + } + }, + { + "type": { + "id": "HP:0100543", + "label": "Cognitive impairment" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:272800", + "label": "Tay-Sachs disease" + } + } + ], + "metaData": { + "created": "2024-06-11T22:02:53.552159Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Teebi_Shaltout_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Teebi_Shaltout_syndrome_patient_1.json new file mode 100644 index 000000000..e904da872 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Teebi_Shaltout_syndrome_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "teebi-shaltout_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000455", + "label": "Broad nasal tip" + } + }, + { + "type": { + "id": "HP:0001838", + "label": "Rocker bottom foot" + } + }, + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0000506", + "label": "Telecanthus" + } + }, + { + "type": { + "id": "HP:0001595", + "label": "Abnormal hair morphology" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0000915", + "label": "Pectus excavatum of inferior sternum" + } + }, + { + "type": { + "id": "HP:0006055", + "label": "Ulnar deviated club hands" + } + }, + { + "type": { + "id": "HP:0000294", + "label": "Low anterior hairline" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0002705", + "label": "High, narrow palate" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:272950", + "label": "Teebi-Shaltout syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:09:49.541821Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Teebi_hypertelorism_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Teebi_hypertelorism_syndrome_1_patient_1.json new file mode 100644 index 000000000..72fa7a243 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Teebi_hypertelorism_syndrome_1_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "teebi_hypertelorism_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0001169", + "label": "Broad palm" + } + }, + { + "type": { + "id": "HP:0004442", + "label": "Sagittal craniosynostosis" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0009890", + "label": "High anterior hairline" + } + }, + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0002553", + "label": "Highly arched eyebrow" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:145420", + "label": "Teebi hypertelorism syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:36:19.831994Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Teebi_hypertelorism_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Teebi_hypertelorism_syndrome_2_patient_1.json new file mode 100644 index 000000000..64990e90d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Teebi_hypertelorism_syndrome_2_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "teebi_hypertelorism_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0011823", + "label": "Chin with horizontal crease" + } + }, + { + "type": { + "id": "HP:0000680", + "label": "Delayed eruption of primary teeth" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0000233", + "label": "Thin vermilion border" + } + }, + { + "type": { + "id": "HP:0003244", + "label": "Penile hypospadias" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619736", + "label": "Teebi hypertelorism syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:46:43.155459Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Teeth_fused_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Teeth_fused_patient_1.json new file mode 100644 index 000000000..569cc62c5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Teeth_fused_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "teeth,_fused", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000164", + "label": "Abnormality of the dentition" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:273000", + "label": "Teeth, fused" + } + } + ], + "metaData": { + "created": "2024-06-12T00:31:52.318834Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Teeth_odd_shapes_oflobodontia_included_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Teeth_odd_shapes_oflobodontia_included_patient_1.json new file mode 100644 index 000000000..e4b617c6a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Teeth_odd_shapes_oflobodontia_included_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "teeth,_odd_shapes_oflobodontia,_included", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000164", + "label": "Abnormality of the dentition" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:187000", + "label": "Teeth, odd shapes oflobodontia, included" + } + } + ], + "metaData": { + "created": "2024-06-11T21:29:57.111755Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": 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"telangiectasia,_hereditary_benign", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002617", + "label": "Vascular dilatation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:187260", + "label": "Telangiectasia, hereditary benign" + } + } + ], + "metaData": { + "created": "2024-06-11T23:29:55.589004Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Telangiectasia_hereditary_hemorrhagic_type_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Telangiectasia_hereditary_hemorrhagic_type_4_patient_1.json new file mode 100644 index 000000000..043db2ac9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Telangiectasia_hereditary_hemorrhagic_type_4_patient_1.json @@ -0,0 +1,86 @@ +{ + "id": "telangiectasia,_hereditary_hemorrhagic,_type_4", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P10Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002408", + "label": "Cerebral arteriovenous malformation" + } + }, + { + "type": { + "id": "HP:0000434", + "label": "Nasal mucosa telangiectasia" + } + }, + { + "type": { + "id": "HP:0000961", + "label": "Cyanosis" + } + }, + { + "type": { + "id": "HP:0004406", + "label": "Spontaneous, recurrent epistaxis" + }, + "onset": { + 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], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Telangiectasia_hereditary_hemorrhagic_type_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Telangiectasia_hereditary_hemorrhagic_type_5_patient_1.json new file mode 100644 index 000000000..e0fceb870 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Telangiectasia_hereditary_hemorrhagic_type_5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "telangiectasia,_hereditary_hemorrhagic,_type_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001009", + "label": "Telangiectasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615506", + "label": "Telangiectasia, hereditary hemorrhagic, type 5" + } + } + ], + "metaData": { + "created": "2024-06-11T21:48:40.541825Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Temporal_arteritis_patient_1.json new file mode 100644 index 000000000..ae5f99b7c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Temporal_arteritis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "temporal_arteritis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003565", + "label": "Elevated erythrocyte sedimentation rate" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:187360", + "label": "Temporal arteritis" + } + } + ], + "metaData": { + "created": "2024-06-11T21:17:06.703276Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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"type": { + "id": "HP:0001593", + "label": "Maxillary lateral incisor microdontia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605282", + "label": "Temtamy preaxial brachydactyly syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:35:22.144681Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Temtamy_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Temtamy_syndrome_patient_1.json new file mode 100644 index 000000000..11fcc2ee7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Temtamy_syndrome_patient_1.json @@ -0,0 +1,189 @@ +{ + "id": "temtamy_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000567", + "label": "Chorioretinal coloboma" + } + }, + { + "type": { + "id": "HP:0001763", + "label": "Pes planus" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0000678", + "label": "Dental crowding" + } + }, + { + "type": { + "id": "HP:0001276", + "label": "Hypertonia" + } + }, + { + "type": { + "id": "HP:0000685", + "label": "Hypoplasia of teeth" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0000357", + "label": "Abnormal location of ears" + } + }, + { + "type": { + "id": 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{ + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0025015", + "label": "Abnormal vascular morphology" + } + }, + { + "type": { + "id": "HP:0011480", + "label": "Unilateral microphthalmos" + } + }, + { + "type": { + "id": "HP:0012019", + "label": "Lens luxation" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:218340", + "label": "Temtamy syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:35:26.964316Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tendons_extensor_of_fingers_anomalous_insertion_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tendons_extensor_of_fingers_anomalous_insertion_of_patient_1.json new file mode 100644 index 000000000..82aa4d180 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tendons_extensor_of_fingers_anomalous_insertion_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "tendons,_extensor,_of_fingers,_anomalous_insertion_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001167", + "label": "Abnormal finger morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:187390", + "label": "Tendons, extensor, of fingers, anomalous insertion of" + } + } + ], + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Teratocarcinoma_Derived_growth_factor_1_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "teratocarcinoma-derived_growth_factor_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002079", + "label": "Hypoplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0002011", + "label": "Morphological central nervous system abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:187395", + "label": "Teratocarcinoma-Derived growth factor 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:01:26.819109Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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calcification" + } + }, + { + "type": { + "id": "HP:0009792", + "label": "Teratoma" + } + }, + { + "type": { + "id": "HP:0001269", + "label": "Hemiparesis" + } + }, + { + "type": { + "id": "HP:0001438", + "label": "Abnormal abdomen morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:273120", + "label": "Teratoma, pineal" + } + } + ], + "metaData": { + "created": "2024-06-11T20:36:18.224067Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Terminal_osseous_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Terminal_osseous_dysplasia_patient_1.json new file mode 100644 index 000000000..ddcaf7115 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Terminal_osseous_dysplasia_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "terminal_osseous_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0001836", + "label": "Camptodactyly of toe" + } + }, + { + "type": { + "id": "HP:0000191", + "label": "Accessory oral frenulum" + } + }, + { + "type": { + "id": "HP:0011355", + "label": "Localized skin lesion" + } + }, + { + "type": { + "id": "HP:0003330", + "label": "Abnormal bone structure" + } + }, + { + "type": { + "id": "HP:0002814", + "label": "Abnormality of the lower limb" + } + }, + { + "type": { + "id": "HP:0005011", + "label": "Mesomelic arm shortening" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0012373", + "label": "Abnormal eye physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300244", + "label": "Terminal osseous dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T20:51:50.720222Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tessadori_van_Haaften_neurodevelopmental_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tessadori_van_Haaften_neurodevelopmental_syndrome_1_patient_1.json new file mode 100644 index 000000000..6c38fd74e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tessadori_van_Haaften_neurodevelopmental_syndrome_1_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "tessadori-van_haaften_neurodevelopmental_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000709", + "label": "Psychosis" + } + }, + { + "type": { + "id": "HP:0000154", + "label": "Wide mouth" + } + }, + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000253", + "label": "Progressive microcephaly" + } + }, + { + "type": { + "id": "HP:0001684", + "label": "Secundum atrial septal defect" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619758", + "label": "Tessadori-van Haaften neurodevelopmental syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:59:32.594894Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tessadori_van_Haaften_neurodevelopmental_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tessadori_van_Haaften_neurodevelopmental_syndrome_2_patient_1.json new file mode 100644 index 000000000..2d6cfc590 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tessadori_van_Haaften_neurodevelopmental_syndrome_2_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "tessadori-van_haaften_neurodevelopmental_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0000629", + "label": "Periorbital fullness" + } + }, + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tessadori_van_Haaften_neurodevelopmental_syndrome_3_patient_1.json @@ -0,0 +1,297 @@ +{ + "id": "tessadori-van_haaften_neurodevelopmental_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0001212", + "label": "Prominent fingertip pads" + } + }, + { + "type": { + "id": "HP:0003763", + "label": "Bruxism" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0100021", + "label": "Cerebral palsy" + } + }, + { + "type": { + "id": "HP:0000194", + "label": "Open mouth" + } + }, + { + "type": { + "id": "HP:0002870", + "label": "Obstructive sleep apnea" + } + }, + { + "type": { + "id": "HP:0000280", + "label": "Coarse facial features" + } + }, + { + "type": { + "id": "HP:0000637", + 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"term": { + "id": "OMIM:273150", + "label": "Testes, rudimentary" + } + } + ], + "metaData": { + "created": "2024-06-11T17:46:26.205510Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Testicular_anomalies_with_or_without_congenital_heart_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Testicular_anomalies_with_or_without_congenital_heart_disease_patient_1.json new file mode 100644 index 000000000..3b3b2329f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Testicular_anomalies_with_or_without_congenital_heart_disease_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "testicular_anomalies_with_or_without_congenital_heart_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000051", + "label": "Perineal hypospadias" + } + }, + { + "type": { + "id": "HP:0000032", + "label": "Abnormal male external genitalia morphology" + } + }, + { + "type": { + "id": "HP:0000061", + "label": "Ambiguous genitalia, female" + } + }, + { + "type": { + "id": "HP:0000036", + "label": "Abnormal penis morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615542", + "label": "Testicular anomalies with or without congenital heart disease" + } + } + ], + "metaData": { + "created": "2024-06-11T19:22:13.406509Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": 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"type": { + "id": "HP:0100728", + "label": "Germ cell neoplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300228", + "label": "Testicular germ cell tumor 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:18:28.160901Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Testicular_microlithiasis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Testicular_microlithiasis_patient_1.json new file mode 100644 index 000000000..e72012bdf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Testicular_microlithiasis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "testicular_microlithiasis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012215", + "label": "Testicular microlithiasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610441", + "label": "Testicular microlithiasis" + } + } + ], + "metaData": { + "created": "2024-06-11T21:26:41.289992Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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"label": "Abnormal male external genitalia morphology" + } + }, + { + "type": { + "id": "HP:0007436", + "label": "Hair-nail ectodermal dysplasia" + } + }, + { + "type": { + "id": "HP:0002714", + "label": "Downturned corners of mouth" + } + }, + { + "type": { + "id": "HP:0011481", + "label": "Abnormal lacrimal duct morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:273390", + "label": "Tetra-Amelia with ectodermal dysplasia and lacrimal duct abnormalities" + } + } + ], + "metaData": { + "created": "2024-06-11T18:07:06.713366Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tetralogy_of_Fallot_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "tetralogy_of_fallot", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004467", + "label": "Preauricular pit" + } + }, + { + "type": { + "id": "HP:0011676", + "label": "Tetralogy of Fallot with absent subarterial conus" + } + }, + { + "type": { + "id": "HP:0040019", + "label": "Finger clinodactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:187500", + "label": "Tetralogy of Fallot" + } + } + ], + "metaData": { + "created": "2024-06-12T02:23:37.336453Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + 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newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thalassemia_beta_dominant_inclusion_body_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thalassemia_beta_dominant_inclusion_body_patient_1.json new file mode 100644 index 000000000..120ddda64 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thalassemia_beta_dominant_inclusion_body_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "thalassemia-beta,_dominant_inclusion-body", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011902", + "label": "Abnormal hemoglobin" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:603902", + "label": "Thalassemia-beta, dominant inclusion-body" + } + } + ], + "metaData": { + "created": "2024-06-11T19:06:28.304128Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0011906", + "label": "Reduced beta/alpha synthesis ratio" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:187550", + "label": "Thalassemia, beta+, silent allele" + } + } + ], + "metaData": { + "created": "2024-06-11T20:11:59.234049Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thanatophoric_dysplasia_glasgow_variant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thanatophoric_dysplasia_glasgow_variant_patient_1.json new file mode 100644 index 000000000..8391d8a15 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thanatophoric_dysplasia_glasgow_variant_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "thanatophoric_dysplasia,_glasgow_variant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0430118", + "label": "Positive skin fungus test" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:273680", + "label": "Thanatophoric dysplasia, glasgow variant" + } + } + ], + "metaData": { + "created": "2024-06-11T20:07:25.628704Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + 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"namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thoracomelic_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thoracomelic_dysplasia_patient_1.json new file mode 100644 index 000000000..5e560b785 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thoracomelic_dysplasia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thoracomelic_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000773", + "label": "Short ribs" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:273740", + "label": "Thoracomelic dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:24:35.177866Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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+ } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:187770", + "label": "Thoracopelvic dysostosis" + } + } + ], + "metaData": { + "created": "2024-06-11T21:23:02.127059Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocythemia_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocythemia_1_patient_1.json new file mode 100644 index 000000000..59cb988c6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocythemia_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thrombocythemia_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008320", + "label": "Impaired collagen-induced platelet aggregation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:187950", + "label": "Thrombocythemia 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:56:18.488962Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocythemia_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocythemia_2_patient_1.json new file mode 100644 index 000000000..18bf56891 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocythemia_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thrombocythemia_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005513", + "label": "Increased megakaryocyte count" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601977", + "label": "Thrombocythemia 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:08:02.453334Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_10_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "thrombocytopenia_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000132", + "label": "Menorrhagia" + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + }, + { + "type": { + "id": "HP:0000978", + "label": "Bruising susceptibility" + } + }, + { + "type": { + "id": "HP:0011874", + "label": "Heparin-induced thrombocytopenia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620484", + "label": "Thrombocytopenia 10" + } + } + ], + "metaData": { + "created": "2024-06-12T01:42:08.371260Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_11_with_multiple_congenital_anomalies_and_dysmorphic_facies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_11_with_multiple_congenital_anomalies_and_dysmorphic_facies_patient_1.json new file mode 100644 index 000000000..99d12cc37 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_11_with_multiple_congenital_anomalies_and_dysmorphic_facies_patient_1.json @@ -0,0 +1,219 @@ +{ + "id": "thrombocytopenia_11_with_multiple_congenital_anomalies_and_dysmorphic_facies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0001642", + "label": "Pulmonic stenosis" + } + }, + { + "type": { + "id": "HP:0000122", + "label": "Unilateral renal agenesis" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0002282", + "label": "Gray matter heterotopia" + } + }, + { + "type": { + "id": "HP:0000414", + "label": "Bulbous nose" + } + }, + { + "type": { + "id": "HP:0001629", + "label": "Ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0001513", + "label": "Obesity" + } + }, + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0011272", + "label": "Underdeveloped tragus" + } + }, + { + "type": { + "id": "HP:0002389", + 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{ + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0005484", + "label": "Secondary microcephaly" + } + }, + { + "type": { + "id": "HP:0000384", + "label": "Preauricular skin tag" + } + }, + { + "type": { + "id": "HP:0100840", + "label": "Aplasia/Hypoplasia of the eyebrow" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620654", + "label": "Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies" + } + } + ], + "metaData": { + "created": "2024-06-11T22:58:43.672777Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + 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} + }, + { + "type": { + "id": "HP:0012647", + "label": "Abnormal inflammatory response" + } + }, + { + "type": { + "id": "HP:0011875", + "label": "Abnormal platelet morphology" + } + }, + { + "type": { + "id": "HP:0011875", + "label": "Abnormal platelet morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:313900", + "label": "Thrombocytopenia 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:00:25.456564Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_2_patient_1.json new file mode 100644 index 000000000..4e2cdbb43 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thrombocytopenia_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034010", + "label": "Increased megakaryocyte colony forming unit count" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:188000", + "label": "Thrombocytopenia 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:13:34.551979Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_3_patient_1.json new file mode 100644 index 000000000..bfe731e0c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_3_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "thrombocytopenia_3", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P2Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0000967", + "label": "Petechiae" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:273900", + "label": "Thrombocytopenia 3" + } + } + ], + "metaData": { + "created": "2024-06-11T20:23:30.446972Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_4_patient_1.json new file mode 100644 index 000000000..7bc2b4eb4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thrombocytopenia_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612004", + "label": "Thrombocytopenia 4" + } + } + ], + "metaData": { + "created": "2024-06-11T18:52:37.001125Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_5_patient_1.json new file mode 100644 index 000000000..3c8bd6074 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thrombocytopenia_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616216", + "label": "Thrombocytopenia 5" + } + } + ], + "metaData": { + "created": "2024-06-11T20:59:07.729496Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_6_patient_1.json new file mode 100644 index 000000000..a9131b963 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_6_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "thrombocytopenia_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0000601", + "label": "Hypotelorism" + } + }, + { + "type": { + "id": "HP:0002003", + "label": "Large forehead" + } + }, + { + "type": { + "id": "HP:0011974", + "label": "Myelofibrosis" + } + }, + { + "type": { + "id": "HP:0000132", + "label": "Menorrhagia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616937", + "label": "Thrombocytopenia 6" + } + } + ], + "metaData": { + "created": "2024-06-11T18:57:50.122200Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_8_with_dysmorphic_features_and_developmental_delay_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_8_with_dysmorphic_features_and_developmental_delay_patient_1.json new file mode 100644 index 000000000..4f77a05b7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_8_with_dysmorphic_features_and_developmental_delay_patient_1.json @@ -0,0 +1,171 @@ +{ + "id": "thrombocytopenia_8,_with_dysmorphic_features_and_developmental_delay", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000490", + "label": "Deeply set eye" + } + }, + { + "type": { + "id": "HP:0011228", + "label": "Horizontal eyebrow" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0005487", + "label": "Prominent metopic ridge" + } + }, + { + "type": { + "id": "HP:0004854", + "label": "Intermittent thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0000436", + "label": "Abnormal nasal tip morphology" + } + }, + { + "type": { + "id": "HP:0031816", + "label": "Abnormal oral morphology" + } + }, + { + "type": { + "id": "HP:0000422", + "label": "Abnormal nasal bridge morphology" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0001537", + "label": "Umbilical hernia" + } + }, + { + "type": { + "id": "HP:0000506", + "label": "Telecanthus" + } + }, + { + "type": { + "id": "HP:0011675", + "label": "Arrhythmia" + } + }, + { + "type": { + "id": "HP:0032438", + "label": "Platelet anisocytosis" + } + }, + { + "type": { + "id": "HP:0040185", + "label": "Macrothrombocytopenia" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0002282", + "label": "Gray matter heterotopia" + } + }, + { + "type": { + "id": "HP:0007933", + "label": "Broad lateral eyebrow" + } + }, + { + "type": { + "id": "HP:0000492", + "label": "Abnormal eyelid morphology" + } + }, + { + "type": { + "id": "HP:0008771", + "label": "Aplasia/Hypoplasia of the ear" + } + }, + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0011342", + "label": "Mild global developmental delay" + } + }, + { + "type": { + "id": "HP:0000307", + "label": "Pointed chin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620475", + "label": "Thrombocytopenia 8, with dysmorphic features and developmental delay" + } + } + ], + "metaData": { + "created": "2024-06-11T18:18:06.070180Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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"Abnormal circulating hormone concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620478", + "label": "Thrombocytopenia 9" + } + } + ], + "metaData": { + "created": "2024-06-11T23:43:28.780507Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_Paris_Trousseau_type_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_Paris_Trousseau_type_patient_1.json new file mode 100644 index 000000000..62c709846 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_Paris_Trousseau_type_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "thrombocytopenia,_paris-trousseau_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003010", + "label": "Prolonged bleeding time" + } + }, + { + "type": { + "id": "HP:0009485", + "label": "Radial deviation of the hand or of fingers of the hand" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0011873", + "label": "Abnormal platelet count" + } + }, + { + "type": { + "id": "HP:0011821", + "label": "Abnormal facial skeleton morphology" + } + }, + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + }, + "modifiers": [ + { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_X_linked_with_or_without_dyserythropoietic_anemia_patient_1.json new file mode 100644 index 000000000..9834f01db --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_X_linked_with_or_without_dyserythropoietic_anemia_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "thrombocytopenia,_x-linked,_with_or_without_dyserythropoietic_anemia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001905", + "label": "Congenital thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0000978", + "label": "Bruising susceptibility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300367", + "label": "Thrombocytopenia, X-linked, with or without dyserythropoietic anemia" + } + } + ], + "metaData": { + "created": "2024-06-12T00:13:49.249308Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009702", + "label": "Carpal synostosis" + } + }, + { + "type": { + "id": "HP:0002389", + "label": "Cavum septum pellucidum" + } + }, + { + "type": { + "id": "HP:0001636", + "label": "Tetralogy of Fallot" + } + }, + { + "type": { + "id": "HP:0100327", + "label": "Cow milk allergy" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0035009", + "label": "Shoulder adduction contracture" + } + }, + { + "type": { + "id": "HP:0003396", + "label": "Syringomyelia" + } + }, + { + "type": { + "id": "HP:0006501", + "label": "Aplasia/Hypoplasia of the radius" + } + }, + { + "type": { + "id": "HP:0410031", + "label": "Submucous cleft of soft and hard palate" + } + }, + { + "type": { + "id": "HP:0004328", + "label": "Abnormal anterior eye segment morphology" + } + }, + { + "type": { + "id": "HP:0006055", + "label": "Ulnar deviated club hands" + } + }, + { + "type": { + "id": "HP:0000549", + "label": "Abnormal conjugate eye movement" + } + }, + { + "type": { + "id": "HP:0009650", + "label": "Short distal phalanx of the thumb" + } + }, + { + "type": { + "id": "HP:0030137", + "label": "Prolonged bleeding following circumcision" + } + }, + { + "type": { + "id": "HP:0000969", + "label": "Edema" + } + }, + { + "type": { + "id": "HP:0033738", + "label": "Primary vesicoureteral reflux" + } + }, + { + "type": { + "id": "HP:0011603", + "label": "Congenital malformation of the great arteries" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + }, + { + "type": { + "id": "HP:0007834", + "label": "Progressive cataract" + } + }, + { + "type": { + "id": "HP:0004977", + "label": "Bilateral radial aplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:274000", + "label": "Thrombocytopenia-absent radius syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:05:07.931235Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_anemia_and_myelofibrosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_anemia_and_myelofibrosis_patient_1.json new file mode 100644 index 000000000..7972de247 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_anemia_and_myelofibrosis_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "thrombocytopenia,_anemia,_and_myelofibrosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0011974", + "label": "Myelofibrosis" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617441", + "label": "Thrombocytopenia, anemia, and myelofibrosis" + } + } + ], + "metaData": { + "created": "2024-06-11T19:44:15.982427Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_autosomal_dominant_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_autosomal_dominant_7_patient_1.json new file mode 100644 index 000000000..a9cb50ad7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_autosomal_dominant_7_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "thrombocytopenia,_autosomal_dominant,_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033535", + "label": "Reduced platelet dense granules" + } + }, + { + "type": { + "id": "HP:0033536", + "label": "Reduced platelet alpha granules" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619130", + "label": "Thrombocytopenia, autosomal dominant, 7" + } + } + ], + "metaData": { + "created": "2024-06-11T20:43:21.518193Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_with_beta_thalassemia_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_with_beta_thalassemia_X_linked_patient_1.json new file mode 100644 index 000000000..0d9d3a76a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_with_beta_thalassemia_X_linked_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "thrombocytopenia_with_beta-thalassemia,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031965", + "label": "Increased RBC distribution width" + } + }, + { + "type": { + "id": "HP:0011877", + "label": "Increased mean platelet volume" + } + }, + { + "type": { + "id": "HP:0011875", + "label": "Abnormal platelet morphology" + } + }, + { + "type": { + "id": "HP:0000978", + "label": "Bruising susceptibility" + } + }, + { + "type": { + "id": "HP:0011875", + "label": "Abnormal platelet morphology" + } + }, + { + "type": { + "id": "HP:0001433", + "label": "Hepatosplenomegaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:314050", + "label": "Thrombocytopenia with beta-thalassemia, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T19:15:31.475671Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_with_elevated_serum_IgA_and_renal_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_with_elevated_serum_IgA_and_renal_disease_patient_1.json new file mode 100644 index 000000000..bacde7a48 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenia_with_elevated_serum_IgA_and_renal_disease_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thrombocytopenia_with_elevated_serum_iga_and_renal_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000099", + "label": "Glomerulonephritis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:314000", + "label": "Thrombocytopenia with elevated serum IgA and renal disease" + } + } + ], + "metaData": { + "created": "2024-06-11T21:41:31.851446Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenic_purpura_autoimmune_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenic_purpura_autoimmune_patient_1.json new file mode 100644 index 000000000..d2f6d9bc6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombocytopenic_purpura_autoimmune_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thrombocytopenic_purpura,_autoimmune", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:188030", + "label": "Thrombocytopenic purpura, autoimmune" + } + } + ], + "metaData": { + "created": "2024-06-11T22:57:01.430550Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_13_X_linked_due_to_factor_VIII_defect_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_13_X_linked_due_to_factor_VIII_defect_patient_1.json new file mode 100644 index 000000000..4c5cc0794 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_13_X_linked_due_to_factor_VIII_defect_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thrombophilia_13,_x-linked,_due_to_factor_viii_defect", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030977", + "label": "Increased factor VIII activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301071", + "label": "Thrombophilia 13, X-linked, due to factor VIII defect" + } + } + ], + "metaData": { + "created": "2024-06-11T19:20:44.651726Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_X_linked_due_to_factor_IX_defect_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_X_linked_due_to_factor_IX_defect_patient_1.json new file mode 100644 index 000000000..04783d6ac --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_X_linked_due_to_factor_IX_defect_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thrombophilia,_x-linked,_due_to_factor_ix_defect", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033061", + "label": "Increased factor IX activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300807", + "label": "Thrombophilia, X-linked, due to factor IX defect" + } + } + ], + "metaData": { + "created": "2024-06-11T18:53:38.066531Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_due_to_decreased_release_of_tissue_plasminogen_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_due_to_decreased_release_of_tissue_plasminogen_patient_1.json new file mode 100644 index 000000000..f1f0727d4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_due_to_decreased_release_of_tissue_plasminogen_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thrombophilia_due_to_decreased_release_of_tissue_plasminogen", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004850", + "label": "Recurrent deep vein thrombosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612348", + "label": "Thrombophilia due to decreased release of tissue plasminogen" + } + } + ], + "metaData": { + "created": "2024-06-11T17:58:18.386546Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_due_to_deficiency_of_activated_protein_C_cofactor_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_due_to_deficiency_of_activated_protein_C_cofactor_patient_1.json new file mode 100644 index 000000000..1ee857ee8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_due_to_deficiency_of_activated_protein_C_cofactor_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "thrombophilia_due_to_deficiency_of_activated_protein_c_cofactor", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100724", + "label": "Hypercoagulability" + } + }, + { + "type": { + "id": "HP:0012175", + "label": "Resistance to activated protein C" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:188055", + "label": "Thrombophilia due to deficiency of activated protein C cofactor" + } + } + ], + "metaData": { + "created": "2024-06-11T22:03:54.744197Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_due_to_histidine_rich_glycoprotein_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_due_to_histidine_rich_glycoprotein_deficiency_patient_1.json new file mode 100644 index 000000000..ddff6702f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_due_to_histidine_rich_glycoprotein_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thrombophilia_due_to_histidine-rich_glycoprotein_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040227", + "label": "Decreased level of histidine-rich glycoprotein" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613116", + "label": "Thrombophilia due to histidine-rich glycoprotein deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T22:41:13.680864Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_due_to_protein_C_deficiency_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_due_to_protein_C_deficiency_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..73937b3e3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_due_to_protein_C_deficiency_autosomal_recessive_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "thrombophilia_due_to_protein_c_deficiency,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005543", + "label": "Reduced protein C activity" + } + }, + { + "type": { + "id": "HP:0002638", + "label": "Superficial thrombophlebitis" + } + }, + { + "type": { + "id": "HP:0002204", + "label": "Pulmonary embolism" + } + }, + { + "type": { + "id": "HP:0004329", + "label": "Abnormal posterior eye segment morphology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0031363", + "label": "Palpable purpura" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612304", + "label": "Thrombophilia due to protein C deficiency, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T20:26:04.307328Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_due_to_protein_S_deficiency_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_due_to_protein_S_deficiency_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..f8502b413 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_due_to_protein_S_deficiency_autosomal_recessive_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "thrombophilia_due_to_protein_s_deficiency,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004855", + "label": "Reduced protein S activity" + } + }, + { + "type": { + "id": "HP:0001933", + "label": "Subcutaneous hemorrhage" + } + }, + { + "type": { + "id": "HP:0005520", + "label": "Chronic disseminated intravascular coagulation" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0100724", + "label": "Hypercoagulability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614514", + "label": "Thrombophilia due to protein S deficiency, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T18:39:49.528281Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_due_to_thrombomodulin_defect_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_due_to_thrombomodulin_defect_patient_1.json new file mode 100644 index 000000000..984289ae4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_due_to_thrombomodulin_defect_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thrombophilia_due_to_thrombomodulin_defect", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002204", + "label": "Pulmonary embolism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614486", + "label": "Thrombophilia due to thrombomodulin defect" + } + } + ], + "metaData": { + "created": "2024-06-11T23:24:49.196167Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_hereditary_due_to_protein_C_deficiency_autosomaldominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_hereditary_due_to_protein_C_deficiency_autosomaldominant_patient_1.json new file mode 100644 index 000000000..a1033437b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_hereditary_due_to_protein_C_deficiency_autosomaldominant_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "thrombophilia,_hereditary,_due_to_protein_c_deficiency,_autosomaldominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002638", + "label": "Superficial thrombophlebitis" + } + }, + { + "type": { + "id": "HP:0005305", + "label": "Cerebral venous thrombosis" + } + }, + { + "type": { + "id": "HP:0002204", + "label": "Pulmonary embolism" + } + }, + { + "type": { + "id": "HP:0100724", + "label": "Hypercoagulability" + } + }, + { + "type": { + "id": "HP:0001038", + "label": "Warfarin-induced skin necrosis" + } + }, + { + "type": { + "id": "HP:0005543", + "label": "Reduced protein C activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:176860", + "label": "Thrombophilia, hereditary, due to protein C deficiency, autosomaldominant" + } + } + ], + "metaData": { + "created": "2024-06-11T18:39:46.142012Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_hereditary_due_to_protein_S_deficiency_autosomal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_hereditary_due_to_protein_S_deficiency_autosomal_patient_1.json new file mode 100644 index 000000000..ad755f83e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophilia_hereditary_due_to_protein_S_deficiency_autosomal_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "thrombophilia,_hereditary,_due_to_protein_s_deficiency,_autosomal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + }, + { + "type": { + "id": "HP:0001977", + "label": "Abnormal thrombosis" + } + }, + { + "type": { + "id": "HP:0004855", + "label": "Reduced protein S activity" + } + }, + { + "type": { + "id": "HP:0032008", + "label": "Pulmonary fat embolism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612336", + "label": "Thrombophilia, hereditary, due to protein S deficiency, autosomal" + } + } + ], + "metaData": { + "created": "2024-06-11T21:16:58.297425Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophiliavenous_thromboembolism_included_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophiliavenous_thromboembolism_included_patient_1.json new file mode 100644 index 000000000..67deec788 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombophiliavenous_thromboembolism_included_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "thrombophiliavenous_thromboembolism,_included", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001907", + "label": "Thromboembolism" + } + }, + { + "type": { + "id": "HP:0002204", + "label": "Pulmonary embolism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:188050", + "label": "Thrombophiliavenous thromboembolism, included" + } + } + ], + "metaData": { + "created": "2024-06-11T21:40:34.999621Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombotic_thrombocytopenic_purpura_hereditary_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombotic_thrombocytopenic_purpura_hereditary_patient_1.json new file mode 100644 index 000000000..59e66b4c9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thrombotic_thrombocytopenic_purpura_hereditary_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "thrombotic_thrombocytopenic_purpura,_hereditary", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011997", + "label": "Postprandial hyperlactemia" + } + }, + { + "type": { + "id": "HP:0001973", + "label": "Autoimmune thrombocytopenia" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0005575", + "label": "Hemolytic-uremic syndrome" + } + }, + { + "type": { + "id": "HP:0020129", + "label": "Abnormal urine protein level" + } + }, + { + "type": { + "id": "HP:0025387", + "label": "Pill-rolling tremor" + } + }, + { + "type": { + "id": "HP:0031258", + "label": "Delirium" + } + }, + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + }, + { + "type": { + "id": "HP:0006579", + "label": "Prolonged neonatal jaundice" + } + }, + { + "type": { + "id": "HP:0001937", + "label": "Microangiopathic hemolytic anemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:274150", + "label": "Thrombotic thrombocytopenic purpura, hereditary" + } + } + ], + "metaData": { + "created": "2024-06-11T22:44:30.877226Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thumb_agenesis_short_stature_and_immunodeficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thumb_agenesis_short_stature_and_immunodeficiency_patient_1.json new file mode 100644 index 000000000..89d4b7cc5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thumb_agenesis_short_stature_and_immunodeficiency_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "thumb_agenesis,_short_stature,_and_immunodeficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000458", + "label": "Anosmia" + } + }, + { + "type": { + "id": "HP:0001574", + "label": "Abnormality of the integument" + } + }, + { + "type": { + "id": "HP:0000823", + "label": "Delayed puberty" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:274190", + "label": "Thumb agenesis, short stature, and immunodeficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T23:11:04.657277Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thumb_deformity_and_alopecia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thumb_deformity_and_alopecia_patient_1.json new file mode 100644 index 000000000..150ac0a95 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thumb_deformity_and_alopecia_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "thumb_deformity_and_alopecia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003498", + "label": "Disproportionate short stature" + } + }, + { + "type": { + "id": "HP:0004529", + "label": "Atrophic, patchy alopecia" + } + }, + { + "type": { + "id": "HP:0006315", + "label": "Solitary median maxillary central incisor" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:188150", + "label": "Thumb deformity and alopecia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:06:41.836042Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thumb_deformity_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thumb_deformity_patient_1.json new file mode 100644 index 000000000..15aea90b2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thumb_deformity_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thumb_deformity", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001626", + "label": "Abnormality of the cardiovascular system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:188100", + "label": "Thumb deformity" + } + } + ], + "metaData": { + "created": "2024-06-11T20:38:20.097769Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thumb_distal_hyperextensibility_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thumb_distal_hyperextensibility_of_patient_1.json new file mode 100644 index 000000000..5f368f1fc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thumb_distal_hyperextensibility_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thumb,_distal_hyperextensibility_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005722", + "label": "Hyperextensible thumb" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:274200", + "label": "Thumb, distal hyperextensibility of" + } + } + ], + "metaData": { + "created": "2024-06-11T18:46:25.415371Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thumb_hypoplastic_with_choroid_coloboma_poorly_developed_antihelix_and_deafness_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thumb_hypoplastic_with_choroid_coloboma_poorly_developed_antihelix_and_deafness_patient_1.json new file mode 100644 index 000000000..c66a76bcd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thumb_hypoplastic_with_choroid_coloboma_poorly_developed_antihelix_and_deafness_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "thumb,_hypoplastic,_with_choroid_coloboma,_poorly_developed_antihelix,and_deafness", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000610", + "label": "Abnormal choroid morphology" + } + }, + { + "type": { + "id": "HP:0005922", + "label": "Abnormal hand morphology" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0100020", + "label": "Posterior capsular cataract" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:274205", + "label": "Thumb, hypoplastic, with choroid coloboma, poorly developed antihelix,and deafness" + } + } + ], + "metaData": { + "created": "2024-06-11T18:22:05.594557Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thumbs_congenital_clasped_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thumbs_congenital_clasped_patient_1.json new file mode 100644 index 000000000..ca1b02cbb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thumbs_congenital_clasped_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thumbs,_congenital_clasped", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000924", + "label": "Abnormality of the skeletal system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:314100", + "label": "Thumbs, congenital clasped" + } + } + ], + "metaData": { + "created": "2024-06-11T23:01:55.889282Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thumbs_stiff_with_brachydactyly_type_A1_and_developmental_delay_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thumbs_stiff_with_brachydactyly_type_A1_and_developmental_delay_patient_1.json new file mode 100644 index 000000000..3f4bd9ef5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thumbs_stiff_with_brachydactyly_type_A1_and_developmental_delay_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thumbs,_stiff,_with_brachydactyly_type_a1_and_developmental_delay", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009371", + "label": "Type A1 brachydactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:188201", + "label": "Thumbs, stiff, with brachydactyly type A1 and developmental delay" + } + } + ], + "metaData": { + "created": "2024-06-11T18:49:13.595167Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thymic_Renal_Anal_Lung_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thymic_Renal_Anal_Lung_dysplasia_patient_1.json new file mode 100644 index 000000000..2d8595c66 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thymic_Renal_Anal_Lung_dysplasia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thymic-renal-anal-lung_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002023", + "label": "Anal atresia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:274265", + "label": "Thymic-Renal-Anal-Lung dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T19:36:58.790668Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thymoma_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thymoma_familial_patient_1.json new file mode 100644 index 000000000..c03004415 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thymoma_familial_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thymoma,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100522", + "label": "Thymoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:274230", + "label": "Thymoma, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T23:21:02.144128Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyrocerebroretinal_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyrocerebroretinal_syndrome_patient_1.json new file mode 100644 index 000000000..1a4163afe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyrocerebroretinal_syndrome_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "thyrocerebroretinal_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + }, + { + "type": { + "id": "HP:0003202", + "label": "Skeletal muscle atrophy" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0000123", + "label": "Nephritis" + } + }, + { + "type": { + "id": "HP:0000853", + "label": "Goiter" + } + }, + { + "type": { + "id": "HP:0001873", + "label": "Thrombocytopenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:274240", + "label": "Thyrocerebroretinal syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:26:36.368333Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_cancer_nonmedullary_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_cancer_nonmedullary_1_patient_1.json new file mode 100644 index 000000000..1047f926f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_cancer_nonmedullary_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thyroid_cancer,_nonmedullary,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002895", + "label": "Papillary thyroid carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:188550", + "label": "Thyroid cancer, nonmedullary, 1" + } + } + ], + "metaData": { + "created": "2024-06-12T00:49:54.927741Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_cancer_nonmedullary_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_cancer_nonmedullary_2_patient_1.json new file mode 100644 index 000000000..a07ddb46a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_cancer_nonmedullary_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thyroid_cancer,_nonmedullary,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002895", + "label": "Papillary thyroid carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:188470", + "label": "Thyroid cancer, nonmedullary, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:35:55.693552Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_cancer_nonmedullary_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_cancer_nonmedullary_3_patient_1.json new file mode 100644 index 000000000..7c1bb45f3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_cancer_nonmedullary_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thyroid_cancer,_nonmedullary,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040198", + "label": "Non-medullary thyroid carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606240", + "label": "Thyroid cancer, nonmedullary, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T23:06:53.456952Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_cancer_nonmedullary_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_cancer_nonmedullary_4_patient_1.json new file mode 100644 index 000000000..672c220f6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_cancer_nonmedullary_4_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thyroid_cancer,_nonmedullary,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002895", + "label": "Papillary thyroid carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616534", + "label": "Thyroid cancer, nonmedullary, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T23:26:26.609361Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_cancer_nonmedullary_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_cancer_nonmedullary_5_patient_1.json new file mode 100644 index 000000000..05e145616 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_cancer_nonmedullary_5_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thyroid_cancer,_nonmedullary,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0040198", + "label": "Non-medullary thyroid carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616535", + "label": "Thyroid cancer, nonmedullary, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T23:10:21.757067Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_carcinoma_familial_medullary_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_carcinoma_familial_medullary_patient_1.json new file mode 100644 index 000000000..18fe16924 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_carcinoma_familial_medullary_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thyroid_carcinoma,_familial_medullary", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002865", + "label": "Medullary thyroid carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:155240", + "label": "Thyroid carcinoma, familial medullary" + } + } + ], + "metaData": { + "created": "2024-06-12T01:42:14.745922Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_dyshormonogenesis_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_dyshormonogenesis_6_patient_1.json new file mode 100644 index 000000000..873166971 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_dyshormonogenesis_6_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thyroid_dyshormonogenesis_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000851", + "label": "Congenital hypothyroidism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607200", + "label": "Thyroid dyshormonogenesis 6" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormone_metabolism_abnormal_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thyroid_hormone_metabolism,_abnormal,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034288", + "label": "Elevated circulating reverse T3 concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619855", + "label": "Thyroid hormone metabolism, abnormal, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:07:32.402659Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormone_metabolism_abnormal_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormone_metabolism_abnormal_3_patient_1.json new file mode 100644 index 000000000..acec9268c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormone_metabolism_abnormal_3_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "thyroid_hormone_metabolism,_abnormal,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003388", + "label": "Easy fatigability" + } + }, + { + "type": { + "id": "HP:0034288", + "label": "Elevated circulating reverse T3 concentration" + } + }, + { + "type": { + "id": "HP:0033076", + "label": "Abnormal circulating free T4 concentration" + } + }, + { + "type": { + "id": "HP:0011788", + "label": "Increased circulating free T3" + } + }, + { + "type": { + "id": "HP:0033077", + "label": "Increased circulating free T4 concentration" + } + }, + { + "type": { + "id": "HP:0001324", + "label": "Muscle weakness" + } + }, + { + "type": { + "id": "HP:0008247", + "label": "Euthyroid hyperthyroxinemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620198", + "label": "Thyroid hormone metabolism, abnormal, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T20:06:23.897640Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormone_metabolism_abnormal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormone_metabolism_abnormal_patient_1.json new file mode 100644 index 000000000..a8b7e9f8a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormone_metabolism_abnormal_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "thyroid_hormone_metabolism,_abnormal", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031508", + "label": "Abnormal circulating thyroid hormone concentration" + } + }, + { + "type": { + "id": "HP:0003117", + "label": "Abnormal circulating hormone concentration" + } + }, + { + "type": { + "id": "HP:0003117", + "label": "Abnormal circulating hormone concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609698", + "label": "Thyroid hormone metabolism, abnormal" + } + } + ], + "metaData": { + "created": "2024-06-11T22:38:18.387997Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormone_plasma_membrane_transport_defect_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormone_plasma_membrane_transport_defect_patient_1.json new file mode 100644 index 000000000..2c9355b7d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormone_plasma_membrane_transport_defect_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thyroid_hormone_plasma_membrane_transport_defect", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000853", + "label": "Goiter" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:188560", + "label": "Thyroid hormone plasma membrane transport defect" + } + } + ], + "metaData": { + "created": "2024-06-11T17:49:53.932495Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormone_resistance_generalized_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormone_resistance_generalized_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..09a3f743f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormone_resistance_generalized_autosomal_dominant_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "thyroid_hormone_resistance,_generalized,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011788", + "label": "Increased circulating free T3" + } + }, + { + "type": { + "id": "HP:0000853", + "label": "Goiter" + } + }, + { + "type": { + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:188570", + "label": "Thyroid hormone resistance, generalized, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:15.042375Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormone_resistance_generalized_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormone_resistance_generalized_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..bf50e2e10 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormone_resistance_generalized_autosomal_recessive_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "thyroid_hormone_resistance,_generalized,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008223", + "label": "Compensated hypothyroidism" + } + }, + { + "type": { + "id": "HP:0031506", + "label": "Increased circulating T4 concentration" + } + }, + { + "type": { + "id": "HP:0100651", + "label": "Type I diabetes mellitus" + } + }, + { + "type": { + "id": "HP:0033236", + "label": "Cognitive fatigue" + } + }, + { + "type": { + "id": "HP:0032069", + "label": "Anti-thyroglobulin antibody positivity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:274300", + "label": "Thyroid hormone resistance, generalized, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T21:01:33.700707Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormone_resistance_selective_pituitary_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormone_resistance_selective_pituitary_patient_1.json new file mode 100644 index 000000000..a4748164b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormone_resistance_selective_pituitary_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thyroid_hormone_resistance,_selective_pituitary", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000836", + "label": "Hyperthyroidism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:145650", + "label": "Thyroid hormone resistance, selective pituitary" + } + } + ], + "metaData": { + "created": "2024-06-11T23:06:46.865741Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormonogenesis_genetic_defect_in_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormonogenesis_genetic_defect_in_1_patient_1.json new file mode 100644 index 000000000..a2e98b7a9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormonogenesis_genetic_defect_in_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "thyroid_hormonogenesis,_genetic_defect_in,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:274400", + "label": "Thyroid hormonogenesis, genetic defect in, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:08:39.728887Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormonogenesis_genetic_defect_in_2A_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormonogenesis_genetic_defect_in_2A_patient_1.json new file mode 100644 index 000000000..832555b50 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormonogenesis_genetic_defect_in_2A_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "thyroid_hormonogenesis,_genetic_defect_in,_2a", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031507", + "label": "Decreased circulating T4 concentration" + } + }, + { + "type": { + "id": "HP:0008223", + "label": "Compensated hypothyroidism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:274500", + "label": "Thyroid hormonogenesis, genetic defect in, 2A" + } + } + ], + "metaData": { + "created": "2024-06-11T20:03:03.913534Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormonogenesis_genetic_defect_in_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormonogenesis_genetic_defect_in_3_patient_1.json new file mode 100644 index 000000000..4ad00a83d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormonogenesis_genetic_defect_in_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "thyroid_hormonogenesis,_genetic_defect_in,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002664", + "label": "Neoplasm" + } + }, + { + "type": { + "id": "HP:0012559", + "label": "Increased T3/T4 ratio" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:274700", + "label": "Thyroid hormonogenesis, genetic defect in, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:29:28.457170Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormonogenesis_genetic_defect_in_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormonogenesis_genetic_defect_in_4_patient_1.json new file mode 100644 index 000000000..fa97ba990 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormonogenesis_genetic_defect_in_4_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "thyroid_hormonogenesis,_genetic_defect_in,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0011772", + "label": "Abnormal thyroid morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:274800", + "label": "Thyroid hormonogenesis, genetic defect in, 4" + } + } + ], + "metaData": { + "created": "2024-06-12T00:30:37.840104Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormonogenesis_genetic_defect_in_5_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormonogenesis_genetic_defect_in_5_patient_1.json new file mode 100644 index 000000000..ba226d124 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyroid_hormonogenesis_genetic_defect_in_5_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "thyroid_hormonogenesis,_genetic_defect_in,_5", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000853", + "label": "Goiter" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:274900", + "label": "Thyroid hormonogenesis, genetic defect in, 5" + } + } + ], + "metaData": { + "created": "2024-06-11T21:58:55.350600Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyrotoxic_periodic_paralysis_susceptibility_to_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyrotoxic_periodic_paralysis_susceptibility_to_1_patient_1.json new file mode 100644 index 000000000..e13772cf3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyrotoxic_periodic_paralysis_susceptibility_to_1_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "thyrotoxic_periodic_paralysis,_susceptibility_to,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002900", + "label": "Hypokalemia" + } + }, + { + "type": { + "id": "HP:0001324", + "label": "Muscle weakness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:188580", + "label": "Thyrotoxic periodic paralysis, susceptibility to, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:22:31.113517Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyrotoxic_periodic_paralysis_susceptibility_to_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyrotoxic_periodic_paralysis_susceptibility_to_2_patient_1.json new file mode 100644 index 000000000..32bc07cbf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyrotoxic_periodic_paralysis_susceptibility_to_2_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "thyrotoxic_periodic_paralysis,_susceptibility_to,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001824", + "label": "Weight loss" + } + }, + { + "type": { + "id": "HP:0001337", + "label": "Tremor" + } + }, + { + "type": { + "id": "HP:0003768", + "label": "Periodic paralysis" + } + }, + { + "type": { + "id": "HP:0031506", + "label": "Increased circulating T4 concentration" + } + }, + { + "type": { + "id": "HP:0033077", + "label": "Increased circulating free T4 concentration" + } + }, + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613239", + "label": "Thyrotoxic periodic paralysis, susceptibility to, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:58:18.168610Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyrotropin_Releasing_hormone_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyrotropin_Releasing_hormone_deficiency_patient_1.json new file mode 100644 index 000000000..7972561fd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Thyrotropin_Releasing_hormone_deficiency_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "thyrotropin-releasing_hormone_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000821", + "label": "Hypothyroidism" + } + }, + { + "type": { + "id": "HP:0002019", + "label": "Constipation" + } + }, + { + "type": { + "id": "HP:0001324", + "label": "Muscle weakness" + } + }, + { + "type": { + "id": "HP:0003561", + "label": "Birth length less than 3rd percentile" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:275120", + "label": "Thyrotropin-Releasing hormone deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T19:06:50.388365Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tibia_hypoplasia_or_aplasia_of_with_polydactyly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tibia_hypoplasia_or_aplasia_of_with_polydactyly_patient_1.json new file mode 100644 index 000000000..5893646d0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tibia_hypoplasia_or_aplasia_of_with_polydactyly_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "tibia,_hypoplasia_or_aplasia_of,_with_polydactyly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005736", + "label": "Short tibia" + } + }, + { + "type": { + "id": "HP:0100258", + "label": "Preaxial polydactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:188740", + "label": "Tibia, hypoplasia or aplasia of, with polydactyly" + } + } + ], + "metaData": { + "created": "2024-06-11T23:15:01.231279Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tibia_vara_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tibia_vara_patient_1.json new file mode 100644 index 000000000..e3f0dc190 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tibia_vara_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "tibia_vara", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002970", + "label": "Genu varum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:188700", + "label": "Tibia vara" + } + } + ], + "metaData": { + "created": "2024-06-11T19:36:58.786725Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tibial_hemimelia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tibial_hemimelia_patient_1.json new file mode 100644 index 000000000..1885aca47 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tibial_hemimelia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "tibial_hemimelia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000924", + "label": "Abnormality of the skeletal system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:275220", + "label": "Tibial hemimelia" + } + } + ], + "metaData": { + "created": "2024-06-11T20:59:59.478295Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tibial_muscular_dystrophy_tardive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tibial_muscular_dystrophy_tardive_patient_1.json new file mode 100644 index 000000000..2623c1feb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tibial_muscular_dystrophy_tardive_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "tibial_muscular_dystrophy,_tardive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008963", + "label": "Tibialis muscle weakness" + } + }, + { + "type": { + "id": "HP:0011399", + "label": "Tibialis anterior muscle atrophy" + } + }, + { + "type": { + "id": "HP:0003458", + "label": "EMG: myopathic abnormalities" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600334", + "label": "Tibial muscular dystrophy, tardive" + } + } + ], + "metaData": { + "created": "2024-06-11T21:30:04.476583Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tibial_torsion_bilateral_medial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tibial_torsion_bilateral_medial_patient_1.json new file mode 100644 index 000000000..fee5e79d1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tibial_torsion_bilateral_medial_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "tibial_torsion,_bilateral_medial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:188800", + "label": "Tibial torsion, bilateral medial" + } + } + ], + "metaData": { + "created": "2024-06-12T02:23:35.927509Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tietz_albinism_deafness_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tietz_albinism_deafness_syndrome_patient_1.json new file mode 100644 index 000000000..55ac331ff --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tietz_albinism_deafness_syndrome_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "tietz_albinism-deafness_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000635", + "label": "Blue irides" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0002227", + "label": "White eyelashes" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:103500", + "label": "Tietz albinism-deafness syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:23:27.566401Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Timothy_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Timothy_syndrome_patient_1.json new file mode 100644 index 000000000..cdac0ca29 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Timothy_syndrome_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "timothy_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001678", + "label": "Atrioventricular block" + } + }, + { + "type": { + "id": "HP:0012725", + "label": "Cutaneous syndactyly" + } + }, + { + "type": { + "id": "HP:0001699", + "label": "Sudden death" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0000717", + "label": "Autism" + } + }, + { + "type": { + "id": "HP:0001662", + "label": "Bradycardia" + } + }, + { + "type": { + "id": "HP:0004756", + "label": "Ventricular tachycardia" + } + }, + { + "type": { + "id": "HP:0002901", + "label": "Hypocalcemia" + } + }, + { + "type": { + "id": "HP:0001657", + "label": "Prolonged QT interval" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0002719", + "label": "Recurrent infections" + } + }, + { + "type": { + "id": "HP:0000311", + "label": "Round face" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0006482", + "label": "Abnormal dental morphology" + } + }, + { + "type": { + "id": "HP:0012337", + "label": "Abnormal homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601005", + "label": "Timothy syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:36:58.156204Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tinea_imbricata_susceptibility_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tinea_imbricata_susceptibility_to_patient_1.json new file mode 100644 index 000000000..069de8834 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tinea_imbricata_susceptibility_to_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "tinea_imbricata,_susceptibility_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001939", + "label": "Abnormality of metabolism/homeostasis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:275240", + "label": "Tinea imbricata, susceptibility to" + } + } + ], + "metaData": { + "created": "2024-06-11T18:53:08.713825Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tn_polyagglutination_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tn_polyagglutination_syndrome_patient_1.json new file mode 100644 index 000000000..0da0ac904 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tn_polyagglutination_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "tn_polyagglutination_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002960", + "label": "Autoimmunity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300622", + "label": "Tn polyagglutination syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:02:10.334906Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Toe_fifth_number_of_phalanges_in_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Toe_fifth_number_of_phalanges_in_patient_1.json new file mode 100644 index 000000000..7f2f0406e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Toe_fifth_number_of_phalanges_in_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "toe,_fifth,_number_of_phalanges_in", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000924", + "label": "Abnormality of the skeletal system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:189000", + "label": "Toe, fifth, number of phalanges in" + } + } + ], + "metaData": { + "created": "2024-06-11T21:54:18.771529Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Toe_misshapen_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Toe_misshapen_patient_1.json new file mode 100644 index 000000000..f3f6c4601 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Toe_misshapen_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "toe,_misshapen", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000924", + "label": "Abnormality of the skeletal system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:189100", + "label": "Toe, misshapen" + } + } + ], + "metaData": { + "created": "2024-06-12T00:31:53.169018Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Toe_rotated_fifth_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Toe_rotated_fifth_patient_1.json new file mode 100644 index 000000000..6fd3de328 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Toe_rotated_fifth_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "toe,_rotated_fifth", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001597", + "label": "Abnormality of the nail" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:189150", + "label": "Toe, rotated fifth" + } + } + ], + "metaData": { + "created": "2024-06-11T19:54:27.448968Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Toes_relative_length_of_first_and_second_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Toes_relative_length_of_first_and_second_patient_1.json new file mode 100644 index 000000000..66be0b952 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Toes_relative_length_of_first_and_second_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "toes,_relative_length_of_first_and_second", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000924", + "label": "Abnormality of the skeletal system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:189200", + "label": "Toes, relative length of first and second" + } + } + ], + "metaData": { + "created": "2024-06-11T22:40:20.355245Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Toes_space_between_first_and_second_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Toes_space_between_first_and_second_patient_1.json new file mode 100644 index 000000000..901e65e14 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Toes_space_between_first_and_second_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "toes,_space_between_first_and_second", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001852", + "label": "Sandal gap" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:189230", + "label": "Toes, space between first and second" + } + } + ], + "metaData": { + "created": "2024-06-11T19:44:13.669935Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tolchin_Le_Caignec_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tolchin_Le_Caignec_syndrome_patient_1.json new file mode 100644 index 000000000..af0663ab8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tolchin_Le_Caignec_syndrome_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "tolchin-le_caignec_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010526", + "label": "Dysgraphia" + } + }, + { + "type": { + "id": "HP:0000276", + "label": "Long face" + } + }, + { + "type": { + "id": "HP:0000348", + "label": "High forehead" + } + }, + { + "type": { + "id": "HP:0007018", + "label": "Attention deficit hyperactivity disorder" + } + }, + { + "type": { + "id": "HP:0001537", + "label": "Umbilical hernia" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0000574", + "label": "Thick eyebrow" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0005769", + "label": "Fifth finger distal phalanx clinodactyly" + } + }, + { + "type": { + "id": "HP:0000176", + "label": "Submucous cleft hard palate" + } + }, + { + "type": { + "id": "HP:0030821", + "label": "Hooded lower eyelid" + } + }, + { + "type": { + "id": "HP:0012745", + "label": "Short palpebral fissure" + } + }, + { + "type": { + "id": "HP:0410329", + "label": "Gluten allergy" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0008204", + "label": "Precocious puberty with Sertoli cell tumor" + } + }, + { + "type": { + "id": "HP:0000717", + "label": "Autism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618971", + "label": "Tolchin-Le Caignec syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:37:37.432551Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tongue_pigmented_fungiform_papillae_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tongue_pigmented_fungiform_papillae_of_patient_1.json new file mode 100644 index 000000000..dc6e8d5bd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tongue_pigmented_fungiform_papillae_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "tongue,_pigmented_fungiform_papillae_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000157", + "label": "Abnormality of the tongue" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:275250", + "label": "Tongue, pigmented fungiform papillae of" + } + } + ], + "metaData": { + "created": "2024-06-11T18:12:35.852278Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tonne_Kalscheuer_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tonne_Kalscheuer_syndrome_patient_1.json new file mode 100644 index 000000000..542398c38 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tonne_Kalscheuer_syndrome_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "tonne-kalscheuer_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000036", + "label": "Abnormal penis morphology" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0002213", + "label": "Fine hair" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0000337", + "label": "Broad forehead" + } + }, + { + "type": { + "id": "HP:0000776", + "label": "Congenital diaphragmatic hernia" + } + }, + { + "type": { + "id": "HP:5200230", + "label": "Maladaptive fear-related cognitions" + } + }, + { + "type": { + "id": "HP:0000220", + "label": "Velopharyngeal insufficiency" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0000032", + "label": "Abnormal male external genitalia morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300978", + "label": "Tonne-Kalscheuer syndrome" + } + } + ], + "metaData": { + "created": "2024-06-12T00:50:12.512029Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_10_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_10_patient_1.json new file mode 100644 index 000000000..7e2d2cc59 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_10_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "tooth_agenesis,_selective,_10", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000677", + "label": "Oligodontia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620173", + "label": "Tooth agenesis, selective, 10" + } + } + ], + "metaData": { + "created": "2024-06-11T20:03:55.109764Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_1_patient_1.json new file mode 100644 index 000000000..3ca369dc7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "tooth_agenesis,_selective,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000668", + "label": "Hypodontia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:106600", + "label": "Tooth agenesis, selective, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T17:58:18.934275Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_3_patient_1.json new file mode 100644 index 000000000..47da3ce37 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_3_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "tooth_agenesis,_selective,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011055", + "label": "Agenesis of permanent molar" + } + }, + { + "type": { + "id": "HP:0000677", + "label": "Oligodontia" + } + }, + { + "type": { + "id": "HP:0001593", + "label": "Maxillary lateral incisor microdontia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604625", + "label": "Tooth agenesis, selective, 3" + } + } + ], + "metaData": { + "created": "2024-06-11T21:55:35.785324Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_4_patient_1.json new file mode 100644 index 000000000..0d0d01b95 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_4_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "tooth_agenesis,_selective,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + }, + { + "type": { + "id": "HP:0006481", + "label": "Abnormality of primary teeth" + } + }, + { + "type": { + "id": "HP:0009804", + "label": "Tooth agenesis" + } + }, + { + "type": { + "id": "HP:0008391", + "label": "Dystrophic fingernails" + } + }, + { + "type": { + "id": "HP:0006483", + "label": "Abnormal number of teeth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:150400", + "label": "Tooth agenesis, selective, 4" + } + } + ], + "metaData": { + "created": "2024-06-11T22:25:05.293706Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_7_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_7_patient_1.json new file mode 100644 index 000000000..2cb4a1893 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_7_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "tooth_agenesis,_selective,_7", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006349", + "label": "Agenesis of permanent teeth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616724", + "label": "Tooth agenesis, selective, 7" + } + } + ], + "metaData": { + "created": "2024-06-12T02:23:39.566482Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_8_patient_1.json new file mode 100644 index 000000000..f97c1de9e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_8_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "tooth_agenesis,_selective,_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008070", + "label": "Sparse hair" + } + }, + { + "type": { + "id": "HP:0045075", + "label": "Sparse eyebrow" + } + }, + { + "type": { + "id": "HP:0006485", + "label": "Agenesis of incisor" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617073", + "label": "Tooth agenesis, selective, 8" + } + } + ], + "metaData": { + "created": "2024-06-11T21:42:00.396927Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_9_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_9_patient_1.json new file mode 100644 index 000000000..310e28f9f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_9_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "tooth_agenesis,_selective,_9", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001592", + "label": "Selective tooth agenesis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617275", + "label": "Tooth agenesis, selective, 9" + } + } + ], + "metaData": { + "created": "2024-06-11T21:59:40.577953Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_X_linked_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_X_linked_1_patient_1.json new file mode 100644 index 000000000..5a2034d72 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_agenesis_selective_X_linked_1_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "tooth_agenesis,_selective,_x-linked,_1", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P5Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000677", + "label": "Oligodontia" + } + }, + { + "type": { + "id": "HP:0011054", + "label": "Agenesis of molar" + } + }, + { + "type": { + "id": "HP:0000668", + "label": "Hypodontia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:313500", + "label": "Tooth agenesis, selective, X-linked, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:09:00.971897Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_malformation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_malformation_patient_1.json new file mode 100644 index 000000000..644e04d01 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tooth_malformation_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "tooth_malformation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000692", + "label": "Tooth malposition" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:189490", + "label": "Tooth malformation" + } + } + ], + "metaData": { + "created": "2024-06-11T18:45:06.688529Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Torsion_dystonia_with_onset_in_infancy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Torsion_dystonia_with_onset_in_infancy_patient_1.json new file mode 100644 index 000000000..27d0e979d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Torsion_dystonia_with_onset_in_infancy_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "torsion_dystonia_with_onset_in_infancy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001304", + "label": "Torsion dystonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602554", + "label": "Torsion dystonia with onset in infancy" + } + } + ], + "metaData": { + "created": "2024-06-11T23:09:46.050816Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Torticollis_keloids_cryptorchidism_and_renal_dysplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Torticollis_keloids_cryptorchidism_and_renal_dysplasia_patient_1.json new file mode 100644 index 000000000..3e8f28c78 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Torticollis_keloids_cryptorchidism_and_renal_dysplasia_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "torticollis,_keloids,_cryptorchidism,_and_renal_dysplasia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008689", + "label": "Bilateral cryptorchidism" + } + }, + { + "type": { + "id": "HP:0005323", + "label": "Hemifacial hypertrophy" + } + }, + { + "type": { + "id": "HP:0002624", + "label": "Abnormal venous morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:314300", + "label": "Torticollis, keloids, cryptorchidism, and renal dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:09:03.356413Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Total_anomalous_pulmonary_venous_return_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Total_anomalous_pulmonary_venous_return_1_patient_1.json new file mode 100644 index 000000000..40dc47ff0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Total_anomalous_pulmonary_venous_return_1_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "total_anomalous_pulmonary_venous_return_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100501", + "label": "Recurrent bronchiolitis" + } + }, + { + "type": { + "id": "HP:0033423", + "label": "Pulmonary arterial hypertension with positive acute response to NO challenge" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:106700", + "label": "Total anomalous pulmonary venous return 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:11:53.608844Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Townes_Brocks_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Townes_Brocks_syndrome_1_patient_1.json new file mode 100644 index 000000000..3623d4d2a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Townes_Brocks_syndrome_1_patient_1.json @@ -0,0 +1,249 @@ +{ + "id": "townes-brocks_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001883", + "label": "Talipes" + } + }, + { + "type": { + "id": "HP:0002023", + "label": "Anal atresia" + } + }, + { + "type": { + "id": "HP:0000143", + "label": "Rectovaginal fistula" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000110", + "label": "Renal dysplasia" + } + }, + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal defect" + } + }, + { + "type": { + "id": "HP:0002247", + "label": "Duodenal atresia" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0002265", + "label": "Large fleshy ears" + } + }, + { + "type": { + "id": "HP:0002020", + "label": "Gastroesophageal reflux" + } + }, + { + "type": { + "id": "HP:0002813", + "label": "Abnormal limb bone morphology" + } + }, + { + "type": { + "id": "HP:0009921", + "label": "Duane anomaly" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0001159", + "label": "Syndactyly" + } + }, + { + "type": { + "id": "HP:0011844", + "label": "Abnormal appendicular skeleton morphology" + } + }, + { + "type": { + "id": "HP:0012211", + "label": "Abnormal renal physiology" + } + }, + { + "type": { + "id": "HP:0011844", + "label": "Abnormal appendicular skeleton morphology" + } + }, + { + "type": { + "id": "HP:0006179", + "label": "Pseudoepiphyses of second metacarpal" + } + }, + { + "type": { + "id": "HP:0004871", + "label": "Perineal fistula" + } + }, + { + "type": { + "id": "HP:0001199", + "label": "Triphalangeal thumb" + } + }, + { + "type": { + "id": "HP:0011451", + "label": "Primary microcephaly" + } + }, + { + "type": { + "id": "HP:0012639", + "label": "Abnormal nervous system morphology" + } + }, + { + "type": { + "id": "HP:0000048", + "label": "Bifid scrotum" + } + }, + { + "type": { + "id": "HP:0008223", + "label": "Compensated hypothyroidism" + } + }, + { + "type": { + "id": "HP:0001551", + "label": "Abnormal umbilicus morphology" + } + }, + { + "type": { + "id": "HP:0000796", + "label": "Urethral obstruction" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": 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"label": "Rectovaginal fistula" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0002023", + "label": "Anal atresia" + } + }, + { + "type": { + "id": "HP:0100542", + "label": "Abnormal localization of kidney" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617466", + "label": "Townes-Brocks syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:14:59.719632Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tracheoesophageal_fistula_with_or_without_esophageal_atresia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tracheoesophageal_fistula_with_or_without_esophageal_atresia_patient_1.json new file mode 100644 index 000000000..612b4c8b8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tracheoesophageal_fistula_with_or_without_esophageal_atresia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "tracheoesophageal_fistula_with_or_without_esophageal_atresia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002575", + "label": "Tracheoesophageal fistula" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:189960", + "label": "Tracheoesophageal fistula with or without esophageal atresia" + } + } + ], + "metaData": { + "created": "2024-06-11T20:21:03.021699Z", + 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"subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000260", + "label": "Wide anterior fontanel" + } + }, + { + "type": { + "id": "HP:0000325", + "label": "Triangular face" + } + }, + { + "type": { + "id": "HP:0002033", + "label": "Poor suck" + } + }, + { + "type": { + "id": "HP:0000233", + "label": "Thin vermilion border" + } + }, + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal defect" + } + }, + { + "type": { + "id": "HP:0001876", + "label": "Pancytopenia" + } + }, + { + "type": { + "id": "HP:0001643", + "label": "Patent ductus arteriosus" + } + }, + { + "type": { + "id": "HP:0001903", + "label": "Anemia" + } + }, + { + "type": { + "id": "HP:0002002", + "label": "Deep philtrum" + } + }, + { + "type": { + "id": "HP:0000322", + "label": "Short philtrum" + } + }, + { + "type": { + "id": "HP:0001680", + "label": "Coarctation of aorta" + } + 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Transcobalamin_II_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Transcobalamin_II_deficiency_patient_1.json new file mode 100644 index 000000000..09fecd550 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Transcobalamin_II_deficiency_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "transcobalamin_ii_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012133", + "label": "Erythroid hypoplasia" + } + }, + { + "type": { + "id": "HP:0001324", + "label": "Muscle weakness" + } + }, + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:275350", + "label": "Transcobalamin II deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T19:29:41.896414Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Transcobalamin_I_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Transcobalamin_I_deficiency_patient_1.json new file mode 100644 index 000000000..b8ad07ca5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Transcobalamin_I_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "transcobalamin_i_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003401", + "label": "Paresthesia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:193090", + "label": "Transcobalamin I deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T20:57:36.876574Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Transient_bullous_dermolysis_of_the_newborn_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Transient_bullous_dermolysis_of_the_newborn_patient_1.json new file mode 100644 index 000000000..79baed798 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Transient_bullous_dermolysis_of_the_newborn_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "transient_bullous_dermolysis_of_the_newborn", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008066", + "label": "Abnormal blistering of the skin" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:131705", + "label": "Transient bullous dermolysis of the newborn" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Transient_erythroblastopenia_of_childhood_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "transient_erythroblastopenia_of_childhood", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005510", + "label": "Transient erythroblastopenia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:227050", + "label": "Transient erythroblastopenia of childhood" + } + } + ], + "metaData": { + "created": "2024-06-11T22:41:51.047095Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Transposition_of_the_great_arteries_dextro_looped_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Transposition_of_the_great_arteries_dextro_looped_1_patient_1.json new file mode 100644 index 000000000..2c49a1dc7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Transposition_of_the_great_arteries_dextro_looped_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "transposition_of_the_great_arteries,_dextro-looped_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001669", + "label": "Transposition of the great arteries" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608808", + "label": "Transposition of the great arteries, dextro-looped 1" + } + } + ], + "metaData": { + "created": "2024-06-11T20:48:15.040804Z", + 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"treacher_collins_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009554", + "label": "Preauricular hair displacement" + } + }, + { + "type": { + "id": "HP:0000272", + "label": "Malar flattening" + } + }, + { + "type": { + "id": "HP:0008551", + "label": "Microtia" + } + }, + { + "type": { + "id": "HP:0000636", + "label": "Upper eyelid coloboma" + } + }, + { + "type": { + "id": "HP:0007633", + "label": "Bilateral microphthalmos" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + }, + { + "type": { + "id": "HP:0000453", + "label": "Choanal atresia" + } + }, + { + "type": { + "id": "HP:0000185", + "label": "Cleft soft palate" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0000160", + "label": "Narrow mouth" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0000372", + "label": "Abnormal auditory canal morphology" + } + }, + { + "type": { + "id": "HP:0011850", + "label": "Parotitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:154500", + "label": "Treacher Collins syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:21:37.835017Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": 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"id": "treacher-collins_syndrome_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0033677", + "label": "Acute respiratory distress syndrome" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + }, + { + "type": { + "id": "HP:0011452", + "label": "Functional abnormality of the middle ear" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + }, + { + "type": { + "id": "HP:0000174", + "label": "Abnormal palate morphology" + } + }, + { + "type": { + "id": "HP:0000272", + "label": "Malar flattening" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0000652", + "label": "Lower eyelid coloboma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618939", + "label": "Treacher-Collins syndrome 4" 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Treacher_collins_syndrome_2_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "treacher_collins_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0008551", + "label": "Microtia" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + } + }, + { + "type": { + "id": "HP:0010669", + "label": "Hypoplasia of the zygomatic bone" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + } + }, + { + "type": { + "id": "HP:0410031", + "label": "Submucous cleft of soft and hard palate" + } + }, + { + "type": { + "id": "HP:0008771", + "label": "Aplasia/Hypoplasia of the ear" + } + }, + { + "type": { + "id": "HP:0200006", + "label": "Slanting of the palpebral fissure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613717", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trehalase_deficiency_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "trehalase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002027", + "label": "Abdominal pain" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612119", + "label": "Trehalase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T22:34:06.588017Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tremor_hereditary_essential_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tremor_hereditary_essential_1_patient_1.json new file mode 100644 index 000000000..bcf8c01df --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tremor_hereditary_essential_1_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "tremor,_hereditary_essential,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002464", + "label": "Spastic dysarthria" + } + }, + { + "type": { + "id": "HP:0030188", + "label": "Tremor by anatomical site" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:190300", + "label": "Tremor, hereditary essential, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:49:43.788958Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"label": "Kinetic tremor" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602134", + "label": "Tremor, hereditary essential, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:30:33.528646Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tremor_hereditary_essential_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tremor_hereditary_essential_4_patient_1.json 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tremor_hereditary_essential_and_idiopathic_normal_pressure_hydrocephalus_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tremor_hereditary_essential_and_idiopathic_normal_pressure_hydrocephalus_patient_1.json new file mode 100644 index 000000000..c3a90e4d7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tremor_hereditary_essential_and_idiopathic_normal_pressure_hydrocephalus_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "tremor,_hereditary_essential,_and_idiopathic_normal_pressure_hydrocephalus", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611808", + "label": "Tremor, hereditary essential, and idiopathic normal pressure hydrocephalus" + } + } + ], + "metaData": { + "created": "2024-06-11T22:26:58.762452Z", + "createdBy": 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"tremor,_nystagmus,_and_duodenal_ulcer", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001317", + "label": "Abnormal cerebellum morphology" + } + }, + { + "type": { + "id": "HP:0030186", + "label": "Kinetic tremor" + } + }, + { + "type": { + "id": "HP:0002588", + "label": "Duodenal ulcer" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:190310", + "label": "Tremor, nystagmus, and duodenal ulcer" + } + } + ], + "metaData": { + "created": "2024-06-11T18:14:22.764677Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": 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file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Trichilemmal_cyst_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trichilemmal_cyst_1_patient_1.json new file mode 100644 index 000000000..16cb3c314 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trichilemmal_cyst_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "trichilemmal_cyst_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000951", + "label": "Abnormality of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609649", + "label": "Trichilemmal cyst 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:48:52.199459Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trichoepithelioma_multiple_familial_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "trichoepithelioma,_multiple_familial,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002671", + "label": "Basal cell carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:601606", + "label": "Trichoepithelioma, multiple familial, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:18:53.001545Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": 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+ }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + }, + { + "type": { + "id": "HP:0000670", + "label": "Carious teeth" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616395", + "label": "Trichothiodystrophy 3, photosensitive" + } + } + ], + "metaData": { + "created": "2024-06-11T22:24:50.865751Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Trichothiodystrophy_4_nonphotosensitive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trichothiodystrophy_4_nonphotosensitive_patient_1.json new file mode 100644 index 000000000..f815cab55 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trichothiodystrophy_4_nonphotosensitive_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "trichothiodystrophy_4,_nonphotosensitive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000648", + "label": "Optic atrophy" + } + }, + { + "type": { + "id": "HP:0001598", + "label": "Concave nail" + } + }, + { + "type": { + "id": "HP:0002164", + "label": "Nail dysplasia" + } + }, + { + "type": { + "id": "HP:0006887", + "label": "Intellectual disability, progressive" + } + }, + { + "type": { + "id": "HP:0009886", + "label": "Trichorrhexis nodosa" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0008222", + "label": "Female infertility" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:234050", + "label": "Trichothiodystrophy 4, nonphotosensitive" + } + } + ], + "metaData": { + "created": "2024-06-11T20:12:14.953373Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Trichothiodystrophy_5_nonphotosensitive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trichothiodystrophy_5_nonphotosensitive_patient_1.json new file mode 100644 index 000000000..6642b89a5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trichothiodystrophy_5_nonphotosensitive_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "trichothiodystrophy_5,_nonphotosensitive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001305", + "label": "Dandy-Walker malformation" + } + }, + { + "type": { + "id": "HP:0000303", + "label": "Mandibular prognathia" + } + }, + { + "type": { + "id": "HP:0002217", + "label": "Slow-growing hair" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0007947", + "label": "Pericentral retinitis pigmentosa" + } + }, + { + "type": { + "id": "HP:0006955", + "label": 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000000000..861f38c44 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trichothiodystrophy_6_nonphotosensitive_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "trichothiodystrophy_6,_nonphotosensitive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0045048", + "label": "Increased HbA2 hemoglobin" + } + }, + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0002217", + "label": "Slow-growing hair" + } + }, + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + }, + { + "type": { + "id": "HP:0005832", + "label": "Dysharmonic delayed bone age" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616943", + "label": "Trichothiodystrophy 6, nonphotosensitive" + } + } + ], + "metaData": { + "created": "2024-06-11T20:15:25.794854Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0045055", + "label": "Tiger tail banding" + } + }, + { + "type": { + "id": "HP:0007502", + "label": "Follicular hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0008064", + "label": "Ichthyosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618546", + "label": "Trichothiodystrophy 7, nonphotosensitive" + } + } + ], + "metaData": { + "created": "2024-06-11T21:44:35.080247Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Trichothiodystrophy_8_nonphotosensitive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trichothiodystrophy_8_nonphotosensitive_patient_1.json new file mode 100644 index 000000000..bdfb2039c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trichothiodystrophy_8_nonphotosensitive_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "trichothiodystrophy_8,_nonphotosensitive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008070", + "label": "Sparse hair" + } + }, + { + "type": { + "id": "HP:0000411", + "label": "Protruding ear" + } + }, + { + "type": { + "id": "HP:0020045", + "label": "Esodeviation" + } + }, + { + "type": { + "id": "HP:0000601", + "label": "Hypotelorism" + } + }, + { + "type": { + "id": "HP:0000278", + "label": "Retrognathia" + } + }, + { + "type": { + "id": "HP:0100876", + "label": "Infra-orbital 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Trichothiodystrophy_9_nonphotosensitive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trichothiodystrophy_9_nonphotosensitive_patient_1.json new file mode 100644 index 000000000..f30267b48 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trichothiodystrophy_9_nonphotosensitive_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "trichothiodystrophy_9,_nonphotosensitive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000689", + "label": "Dental malocclusion" + } + }, + { + "type": { + "id": "HP:0045055", + "label": "Tiger tail banding" + } + }, + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + } + }, + { + "type": { + "id": "HP:0002600", + "label": "Hyporeflexia of 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trigeminal_neuralgia_patient_1.json new file mode 100644 index 000000000..968ef67eb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trigeminal_neuralgia_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "trigeminal_neuralgia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100661", + "label": "Trigeminal neuralgia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:190400", + "label": "Trigeminal neuralgia" + } + } + ], + "metaData": { + "created": "2024-06-11T20:05:47.996652Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Trigger_thumb_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trigger_thumb_patient_1.json new file mode 100644 index 000000000..ea591b596 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trigger_thumb_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "trigger_thumb", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001172", + "label": "Abnormal thumb morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:190410", + "label": "Trigger thumb" + } + } + ], + "metaData": { + "created": "2024-06-11T20:21:10.659077Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Triglyceride_storage_disease_type_II_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Triglyceride_storage_disease_type_II_patient_1.json new file mode 100644 index 000000000..241475896 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Triglyceride_storage_disease_type_II_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "triglyceride_storage_disease,_type_ii", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001513", + "label": "Obesity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:190430", + "label": "Triglyceride storage disease, type II" + } + } + ], + "metaData": { + "created": "2024-06-11T22:08:23.235746Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Triglyceride_storage_disease_type_I_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Triglyceride_storage_disease_type_I_patient_1.json new file mode 100644 index 000000000..c3a422b32 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Triglyceride_storage_disease_type_I_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "triglyceride_storage_disease,_type_i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:190420", + "label": "Triglyceride storage disease, type I" + } + } + ], + "metaData": { + "created": "2024-06-11T21:34:40.236656Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Trigonocephaly_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trigonocephaly_1_patient_1.json new file mode 100644 index 000000000..05f0c7dab --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trigonocephaly_1_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "trigonocephaly_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001363", + "label": "Craniosynostosis" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0000537", + "label": "Epicanthus inversus" + } + }, + { + "type": { + "id": "HP:0000032", + "label": "Abnormal male external genitalia morphology" + } + }, + { + "type": { + "id": "HP:0003196", + "label": "Short nose" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:190440", + "label": "Trigonocephaly 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:48:12.055232Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Trigonocephaly_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trigonocephaly_2_patient_1.json new file mode 100644 index 000000000..40bb3e6a0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trigonocephaly_2_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "trigonocephaly_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614485", + "label": "Trigonocephaly 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:01:55.866735Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"trigonocephaly_with_short_stature_and_developmental_delay", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000243", + "label": "Trigonocephaly" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001518", + "label": "Small for gestational age" + } + }, + { + "type": { + "id": "HP:0000444", + "label": "Convex nasal ridge" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:314320", + "label": "Trigonocephaly with short stature and developmental delay" + } + } + ], + "metaData": { + "created": "2024-06-11T18:30:33.032287Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Trimethylaminuria_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trimethylaminuria_patient_1.json new file mode 100644 index 000000000..526ebaf99 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trimethylaminuria_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "trimethylaminuria", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003614", + "label": "Trimethylaminuria" + } + }, + { + "type": { + "id": "HP:0011991", + "label": "Abnormal neutrophil count" + } + }, + { + "type": { + "id": "HP:0006268", + "label": "Fluctuating splenomegaly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602079", + "label": "Trimethylaminuria" + } + } + ], + "metaData": { + "created": "2024-06-11T21:25:33.364749Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Triokinase_and_FMN_cyclase_deficiency_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Triokinase_and_FMN_cyclase_deficiency_syndrome_patient_1.json new file mode 100644 index 000000000..52fb52bc7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Triokinase_and_FMN_cyclase_deficiency_syndrome_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "triokinase_and_fmn_cyclase_deficiency_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P0Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003128", + "label": "Lactic acidosis" + } + }, + { + "type": { + "id": "HP:0001733", + "label": "Pancreatitis" + } + }, + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0010862", + "label": "Delayed fine motor development" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618805", + "label": "Triokinase and FMN cyclase deficiency syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:28:34.585364Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Triosephosphate_isomerase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Triosephosphate_isomerase_deficiency_patient_1.json new file mode 100644 index 000000000..76ea640ad --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Triosephosphate_isomerase_deficiency_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "triosephosphate_isomerase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001562", + "label": "Oligohydramnios" + } + }, + { + "type": { + "id": "HP:0001897", + "label": "Normocytic anemia" + } + }, + { + "type": { + "id": "HP:0032005", + "label": "Hemidystonia" + } + }, + { + "type": { + "id": "HP:0010972", + "label": "Anemia of inadequate production" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0001722", + "label": "High-output congestive heart failure" + } + }, + { + "type": { + "id": "HP:0010972", + "label": "Anemia of inadequate production" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + }, + { + "type": { + "id": "HP:0001525", + "label": "Severe failure to thrive" + } + }, + { + "type": { + "id": "HP:0002795", + "label": "Abnormal respiratory system physiology" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615512", + "label": "Triosephosphate isomerase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T21:49:04.540890Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Triphalangeal_thumb_nonopposable_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Triphalangeal_thumb_nonopposable_patient_1.json new file mode 100644 index 000000000..2b2673c9d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Triphalangeal_thumb_nonopposable_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "triphalangeal_thumb,_nonopposable", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001199", + "label": "Triphalangeal thumb" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:190600", + "label": "Triphalangeal thumb, nonopposable" + } + } + ], + "metaData": { + "created": "2024-06-11T19:32:27.035518Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005725", + "label": "Nonopposable triphalangeal thumb" + } + }, + { + "type": { + "id": "HP:0011844", + "label": "Abnormal appendicular skeleton morphology" + } + }, + { + "type": { + "id": "HP:0010709", + "label": "2-4 finger syndactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:190605", + "label": "Triphalangeal thumb-polysyndactyly syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:48:52.272360Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Triphalangeal_thumb_with_double_phalanges_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Triphalangeal_thumb_with_double_phalanges_patient_1.json new file mode 100644 index 000000000..716400ad9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Triphalangeal_thumb_with_double_phalanges_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "triphalangeal_thumb_with_double_phalanges", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009606", + "label": "Complete duplication of distal phalanx of the thumb" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:190500", + "label": "Triphalangeal thumb with double phalanges" + } + } + ], + "metaData": { + "created": "2024-06-11T18:04:10.212817Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Triphalangeal_thumbs_and_dislocation_of_patella_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Triphalangeal_thumbs_and_dislocation_of_patella_patient_1.json new file mode 100644 index 000000000..a3b923a4f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Triphalangeal_thumbs_and_dislocation_of_patella_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "triphalangeal_thumbs_and_dislocation_of_patella", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001199", + "label": "Triphalangeal thumb" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:190650", + "label": "Triphalangeal thumbs and dislocation of patella" + } + } + ], + "metaData": { + "created": "2024-06-11T23:38:59.750356Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Triphalangeal_thumbs_with_brachyectrodactyly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Triphalangeal_thumbs_with_brachyectrodactyly_patient_1.json new file mode 100644 index 000000000..2d2a554c6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Triphalangeal_thumbs_with_brachyectrodactyly_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "triphalangeal_thumbs_with_brachyectrodactyly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005643", + "label": "Short 3rd toe" + } + }, + { + "type": { + "id": "HP:0001199", + "label": "Triphalangeal thumb" + } + }, + { + "type": { + "id": "HP:0001171", + "label": "Split hand" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:190680", + "label": "Triphalangeal thumbs with brachyectrodactyly" + } + } + ], + "metaData": { + "created": "2024-06-11T22:53:55.677363Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Trochlea_of_the_humerus_aplasia_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trochlea_of_the_humerus_aplasia_of_patient_1.json new file mode 100644 index 000000000..a024e6318 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Trochlea_of_the_humerus_aplasia_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "trochlea_of_the_humerus,_aplasia_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:191000", + "label": "Trochlea of the humerus, aplasia of" + } + } + ], + "metaData": { + "created": "2024-06-12T02:16:32.508819Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tropical_calcific_pancreatitis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tropical_calcific_pancreatitis_patient_1.json new file mode 100644 index 000000000..dda0d84bb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tropical_calcific_pancreatitis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "tropical_calcific_pancreatitis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002027", + "label": "Abdominal pain" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608189", + "label": "Tropical calcific pancreatitis" + } + } + ], + "metaData": { + "created": "2024-06-11T20:23:26.495906Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tryptophanuria_with_dwarfism_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tryptophanuria_with_dwarfism_patient_1.json new file mode 100644 index 000000000..0cb89e5d3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tryptophanuria_with_dwarfism_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "tryptophanuria_with_dwarfism", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0003361", + "label": "Tryptophanuria" + } + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:276100", + "label": "Tryptophanuria with dwarfism" + } + } + ], + "metaData": { + "created": "2024-06-11T19:53:30.847396Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tuberous_sclerosis_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tuberous_sclerosis_1_patient_1.json new file mode 100644 index 000000000..ad3b97840 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tuberous_sclerosis_1_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "tuberous_sclerosis-1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000957", + "label": "Cafe-au-lait spot" + } + }, + { + "type": { + "id": "HP:0009592", + "label": "Astrocytoma" + } + }, + { + "type": { + "id": "HP:0011097", + "label": "Epileptic spasm" + } + }, + { + "type": { + "id": "HP:0009729", + "label": "Cardiac rhabdomyoma" + } + }, + { + "type": { + "id": "HP:0007206", + "label": "Hemimegalencephaly" + } + }, + { + "type": { + "id": "HP:0009724", + "label": "Subungual fibromas" + } + }, + { + "type": { + "id": "HP:0000107", + "label": "Renal cyst" + } + }, + { + "type": { + "id": "HP:0009716", + "label": "Subependymal nodules" + } + }, + { + "type": { + "id": "HP:0009722", + "label": "Dental enamel pits" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0001010", + "label": "Hypopigmentation of the skin" + } + }, + { + "type": { + "id": "HP:0011793", + "label": "Neoplasm by anatomical site" + } + }, + { + "type": { + "id": "HP:0002664", + "label": "Neoplasm" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:191100", + "label": "Tuberous sclerosis-1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:10:36.999102Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tuberous_sclerosis_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tuberous_sclerosis_2_patient_1.json new file mode 100644 index 000000000..9b0b909cf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tuberous_sclerosis_2_patient_1.json @@ -0,0 +1,159 @@ +{ + "id": "tuberous_sclerosis-2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002888", + "label": "Ependymoma" + } + }, + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + }, + { + "type": { + "id": "HP:0001328", + "label": "Specific learning disability" + } + }, + { + "type": { + "id": "HP:0007018", + "label": 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+ } + }, + { + "type": { + "id": "HP:0100622", + "label": "Maternal seizure" + } + }, + { + "type": { + "id": "HP:0001716", + "label": "Wolff-Parkinson-White syndrome" + } + }, + { + "type": { + "id": "HP:0032844", + "label": "Focal impaired awareness epileptic spasm" + } + }, + { + "type": { + "id": "HP:0041050", + "label": "Renal tubular cyst" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613254", + "label": "Tuberous sclerosis-2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:00:36.809440Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tubulointerstitial_kidney_disease_autosomal_dominant_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tubulointerstitial_kidney_disease_autosomal_dominant_1_patient_1.json new file mode 100644 index 000000000..b2ff3dec6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tubulointerstitial_kidney_disease_autosomal_dominant_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "tubulointerstitial_kidney_disease,_autosomal_dominant,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000112", + "label": "Nephropathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:162000", + "label": "Tubulointerstitial kidney disease, autosomal dominant, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:50:15.693890Z", + "createdBy": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tubulointerstitial_kidney_disease_autosomal_dominant_2_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "tubulointerstitial_kidney_disease,_autosomal_dominant,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005576", + "label": "Tubulointerstitial fibrosis" + } + }, + { + "type": { + "id": "HP:0000096", + "label": "Glomerular sclerosis" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + }, + { + "type": { + "id": "HP:0001854", + "label": "Podagra" + } + }, + { + "type": { + "id": "HP:0012211", + "label": "Abnormal renal physiology" + } + }, + { + "type": { + "id": "HP:0100957", + "label": "Abnormal renal medulla morphology" + } + }, + { + "type": { + "id": "HP:0008678", + "label": "Renal hypoplasia/aplasia" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0003259", + "label": "Elevated circulating creatinine concentration" + } + }, + { + "type": { + "id": "HP:0004732", + "label": "Impaired renal uric acid clearance" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:174000", + "label": "Tubulointerstitial kidney disease, autosomal dominant, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:10:57.051487Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tubulointerstitial_kidney_disease_autosomal_dominant_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tubulointerstitial_kidney_disease_autosomal_dominant_4_patient_1.json new file mode 100644 index 000000000..4bb9bacc0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tubulointerstitial_kidney_disease_autosomal_dominant_4_patient_1.json @@ -0,0 +1,104 @@ +{ + "id": "tubulointerstitial_kidney_disease,_autosomal_dominant,_4", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P10Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000097", + "label": "Focal segmental glomerulosclerosis" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + }, + 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"created": "2024-06-11T18:06:13.280200Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tukel_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tukel_syndrome_patient_1.json new file mode 100644 index 000000000..5893aa91c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tukel_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "tukel_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000508", + "label": "Ptosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:609428", + "label": "Tukel syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:25:52.564532Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tumor_predisposition_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tumor_predisposition_syndrome_2_patient_1.json new file mode 100644 index 000000000..17e72c727 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tumor_predisposition_syndrome_2_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "tumor_predisposition_syndrome_2", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P41Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003003", + "label": "Colon cancer" + } + }, + { + "type": { + "id": "HP:0004808", + "label": "Acute myeloid leukemia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011462", + "label": "Young adult onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619975", + "label": "Tumor predisposition syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:23:01.484674Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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"type": { + "id": "HP:0005584", + "label": "Renal cell carcinoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614327", + "label": "Tumor predisposition syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:32:56.868390Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tumoral_calcinosis_hyperphosphatemic_familial_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tumoral_calcinosis_hyperphosphatemic_familial_1_patient_1.json new file mode 100644 index 000000000..9d40aa5a8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tumoral_calcinosis_hyperphosphatemic_familial_1_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "tumoral_calcinosis,_hyperphosphatemic,_familial,_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002905", + "label": "Hyperphosphatemia" + } + }, + { + "type": { + "id": "HP:0100774", + "label": "Hyperostosis" + } + }, + { + "type": { + "id": "HP:0031415", + "label": "High serum calcitriol" + } + }, + { + "type": { + "id": "HP:0011805", + "label": "Abnormal skeletal muscle morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:211900", + "label": "Tumoral calcinosis, hyperphosphatemic, familial, 1" + } + } + ], + "metaData": { + "created": "2024-06-12T02:18:54.950730Z", + "createdBy": 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+1,51 @@ +{ + "id": "tumoral_calcinosis,_hyperphosphatemic,_familial,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007618", + "label": "Subcutaneous calcification" + } + }, + { + "type": { + "id": "HP:0002150", + "label": "Hypercalciuria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617993", + "label": "Tumoral calcinosis, hyperphosphatemic, familial, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T23:12:18.776505Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tumoral_calcinosis_hyperphosphatemic_familial_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tumoral_calcinosis_hyperphosphatemic_familial_3_patient_1.json new file mode 100644 index 000000000..3924b5446 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tumoral_calcinosis_hyperphosphatemic_familial_3_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "tumoral_calcinosis,_hyperphosphatemic,_familial,_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005450", + "label": "Calvarial osteosclerosis" + } + }, + { + "type": { + "id": "HP:0002905", + "label": "Hyperphosphatemia" + } + }, + { + "type": { + "id": "HP:0012378", + "label": "Fatigue" + } + }, + { + "type": { + "id": "HP:0000938", + "label": "Osteopenia" + } + }, + { + "type": { + "id": "HP:0002514", + "label": "Cerebral calcification" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0031415", + "label": "High serum calcitriol" + } + }, + { + "type": { + "id": "HP:0012228", + "label": "Tension-type headache" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617994", + "label": "Tumoral calcinosis, hyperphosphatemic, familial, 3" + } + } + ], + "metaData": { + "created": "2024-06-12T02:16:18.627278Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tumoral_calcinosis_normophosphatemic_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tumoral_calcinosis_normophosphatemic_familial_patient_1.json new file mode 100644 index 000000000..f19d580e2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tumoral_calcinosis_normophosphatemic_familial_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "tumoral_calcinosis,_normophosphatemic,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025520", + "label": "Calcinosis cutis" + } + }, + { + "type": { + "id": "HP:0000509", + "label": "Conjunctivitis" + } + }, + { + "type": { + "id": "HP:0000230", + "label": "Gingivitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610455", + "label": "Tumoral calcinosis, normophosphatemic, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T21:25:47.115588Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tune_deafness_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tune_deafness_patient_1.json new file mode 100644 index 000000000..d46d2ad8f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tune_deafness_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "tune_deafness", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000365", + "label": "Hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:191200", + "label": "Tune deafness" + } + } + ], + "metaData": { + "created": "2024-06-11T23:40:02.939689Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Turnpenny_Fry_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Turnpenny_Fry_syndrome_patient_1.json new file mode 100644 index 000000000..6fecebe79 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Turnpenny_Fry_syndrome_patient_1.json @@ -0,0 +1,243 @@ +{ + "id": "turnpenny-fry_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100818", + "label": "Long thorax" + } + }, + { + "type": { + "id": "HP:0008936", + "label": "Axial hypotonia" + } + }, + { + "type": { + "id": "HP:0000689", + "label": "Dental malocclusion" + } + }, + { + "type": { + "id": "HP:0001181", + "label": "Adducted thumb" + } + }, + { + "type": { + "id": "HP:0000248", + "label": "Brachycephaly" + } + }, + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0000272", + "label": "Malar flattening" + } + }, + { + "type": { + "id": "HP:0008872", + "label": "Feeding difficulties in infancy" + } + }, + { + "type": { + "id": "HP:0040194", + "label": "Increased head circumference" + } + }, + { + "type": { + "id": "HP:0004325", + "label": "Decreased body weight" + } + }, + { + "type": { + "id": "HP:0003781", + "label": "Excessive salivation" + } + }, + { + "type": { + "id": "HP:0002870", + "label": "Obstructive sleep apnea" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0007068", + "label": "Inferior cerebellar vermis hypoplasia" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0006347", + "label": "Microdontia of primary teeth" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + }, + { + "type": { + "id": "HP:0005659", + "label": "Thoracic kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0001182", + "label": "Tapered finger" + } + }, + { + "type": { + "id": "HP:0005257", + "label": "Thoracic hypoplasia" + } + }, + { + "type": { + "id": "HP:0011649", + "label": "Patent ductus arteriosus after premature birth" + } + }, + { + "type": { + "id": "HP:0031297", + "label": "Unroofed coronary sinus" + } + }, + { + "type": { + "id": "HP:0000297", + "label": "Facial hypotonia" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0006313", + "label": "Widely spaced primary teeth" + } + }, + { + "type": { + "id": "HP:0002714", + "label": "Downturned corners of mouth" + } + }, + { + "type": { + "id": "HP:0001863", + "label": "Toe clinodactyly" + } + }, + { + "type": { + "id": "HP:0007481", + "label": "Hyperpigmented nevi" + } + }, + { + "type": { + "id": "HP:0004373", + "label": "Focal dystonia" + } + }, + { + "type": { + "id": "HP:0000260", + "label": "Wide anterior fontanel" + } + }, + { + "type": { + "id": "HP:0008376", + "label": "Nasal dysarthria" + } + }, + { + "type": { + "id": "HP:0000276", + "label": "Long face" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618371", + "label": "Turnpenny-Fry syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:22:10.997052Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tylosis_with_esophageal_cancer_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tylosis_with_esophageal_cancer_patient_1.json new file mode 100644 index 000000000..2aae77997 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tylosis_with_esophageal_cancer_patient_1.json @@ -0,0 +1,56 @@ +{ + "id": "tylosis_with_esophageal_cancer", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P56Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002745", + "label": "Oral leukoplakia" + } + }, + { + "type": { + "id": "HP:0007502", + "label": "Follicular hyperkeratosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:148500", + "label": "Tylosis with esophageal cancer" + } + } + ], + "metaData": { + "created": "2024-06-11T22:30:16.214476Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": 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{ + "id": "HP:0002013", + "label": "Vomiting" + } + }, + { + "type": { + "id": "HP:0003077", + "label": "Hyperlipidemia" + } + }, + { + "type": { + "id": "HP:0002018", + "label": "Nausea" + } + }, + { + "type": { + "id": "HP:0003124", + "label": "Hypercholesterolemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:238600", + "label": "Type I hyperlipoproteinemia" + } + } + ], + "metaData": { + "created": "2024-06-11T23:28:33.149252Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Tyrosine_transaminase_deficiency_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tyrosine_transaminase_deficiency_patient_1.json new file mode 100644 index 000000000..66dfb7d33 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Tyrosine_transaminase_deficiency_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "tyrosine_transaminase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0003161", + "label": "4-Hydroxyphenylpyruvic aciduria" + } + }, + { + "type": { + "id": "HP:0000951", + "label": "Abnormality of the skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:276600", + "label": "Tyrosine transaminase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T18:39:50.052784Z", + "createdBy": 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}, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003161", + "label": "4-Hydroxyphenylpyruvic aciduria" + } + }, + { + "type": { + "id": "HP:0003231", + "label": "Hypertyrosinemia" + } + }, + { + "type": { + "id": "HP:0003607", + "label": "4-hydroxyphenylacetic aciduria" + } + }, + { + "type": { + "id": "HP:0010864", + "label": "Intellectual disability, severe" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:276710", + "label": "Tyrosinemia, type III" + } + } + ], + "metaData": { + "created": "2024-06-11T19:42:16.149447Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/UV_sensitive_syndrome_1_patient_1.json new file mode 100644 index 000000000..0db5fbcef --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/UV_sensitive_syndrome_1_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "uv-sensitive_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001009", + "label": "Telangiectasia" + } + }, + { + "type": { + "id": "HP:0000992", + "label": "Cutaneous photosensitivity" + } + }, + { + "type": { + "id": "HP:0007623", + "label": "Pigmentation anomalies of sun-exposed skin" + } + }, + { + "type": { + "id": "HP:0001480", + "label": "Freckling" + } + }, + { + "type": { + "id": "HP:0000958", + "label": "Dry skin" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600630", + "label": "UV-sensitive syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T22:40:35.921676Z", + "createdBy": "phenotype2phenopacket", + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/UV_sensitive_syndrome_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/UV_sensitive_syndrome_3_patient_1.json new file mode 100644 index 000000000..8c103404b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/UV_sensitive_syndrome_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "uv-sensitive_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011276", + "label": "Vascular skin abnormality" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614640", + "label": "UV-sensitive syndrome 3" + } + } + ], + "metaData": { + "created": "2024-06-11T23:56:34.424613Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ullrich_congenital_muscular_dystrophy_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ullrich_congenital_muscular_dystrophy_2_patient_1.json new file mode 100644 index 000000000..177efffd3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ullrich_congenital_muscular_dystrophy_2_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "ullrich_congenital_muscular_dystrophy_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0010628", + "label": "Facial palsy" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003623", + "label": "Neonatal onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616470", + "label": "Ullrich congenital muscular dystrophy 2" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ulna_and_fibula_absence_of_with_severe_limb_deficiency_patient_1.json @@ -0,0 +1,183 @@ +{ + "id": "ulna_and_fibula,_absence_of,_with_severe_limb_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008817", + "label": "Aplastic pubic bone" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0009815", + "label": "Aplasia/hypoplasia of the extremities" + } + }, + { + "type": { + "id": "HP:0000046", + "label": "Small scrotum" + } + }, + { + "type": { + "id": "HP:0003252", + "label": "Anteriorly displaced genitalia" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0005474", + "label": "Decreased calvarial ossification" + } + }, + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0000276", + "label": "Long face" + } + }, + { + "type": { + "id": "HP:0006585", + "label": "Congenital pseudoarthrosis of the clavicle" + } + }, + { + "type": { + "id": "HP:0000885", + "label": "Broad ribs" + } + }, + { + "type": { + "id": "HP:0001552", + "label": "Barrel-shaped chest" + } + }, + { + "type": { + "id": "HP:0002937", + "label": "Hemivertebrae" + } + }, + { + "type": { + "id": "HP:0000047", + "label": "Hypospadias" + } + }, + { + "type": { + "id": "HP:0000151", + "label": "Aplasia of the uterus" + } + }, + { + "type": { + "id": "HP:0000475", + "label": "Broad neck" + } + }, + { + "type": { + "id": "HP:0001798", + "label": "Anonychia" + } + }, + { + "type": { + "id": "HP:0000884", + "label": "Prominent sternum" + } + }, + { + "type": { + "id": "HP:0004231", + "label": "Carpal bone aplasia" + } + }, + { + "type": { + "id": "HP:0002557", + "label": "Hypoplastic nipples" + } + }, + { + "type": { + "id": "HP:0000189", + "label": "Narrow palate" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0000492", + "label": "Abnormal eyelid morphology" + } + }, + { + "type": { + "id": "HP:0000889", + "label": "Abnormal clavicle morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:276820", + "label": "Ulna and fibula, absence of, with severe limb deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T17:59:09.013023Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ulna_metaphyseal_dysplasia_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ulna_metaphyseal_dysplasia_syndrome_patient_1.json new file mode 100644 index 000000000..f90ff6d2a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ulna_metaphyseal_dysplasia_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ulna_metaphyseal_dysplasia_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003072", + "label": "Hypercalcemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:191420", + "label": "Ulna metaphyseal dysplasia syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:08:09.721142Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ulnar_Mammary_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ulnar_Mammary_syndrome_patient_1.json new file mode 100644 index 000000000..c6df30b3b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ulnar_Mammary_syndrome_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "ulnar-mammary_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009237", + "label": "Short 5th finger" + } + }, + { + "type": { + "id": "HP:0006709", + "label": "Aplasia/Hypoplasia of the nipples" + } + }, + { + "type": { + "id": "HP:0040072", + "label": "Abnormal forearm bone morphology" + } + }, + { + "type": { + "id": "HP:0005916", + "label": "Abnormal metacarpal morphology" + } + }, + { + "type": { + "id": "HP:0100840", + "label": "Aplasia/Hypoplasia of the eyebrow" + } + }, + { + "type": { + "id": "HP:0006710", + "label": "Aplasia/Hypoplasia of the clavicles" + } + }, + { + "type": { + "id": "HP:0006496", + "label": "Aplasia/hypoplasia involving bones of the upper limbs" + } + }, + { + "type": { + "id": "HP:0000032", + "label": "Abnormal male external genitalia morphology" + } + }, + { + "type": { + "id": "HP:0009246", + "label": "Aplasia of the distal phalanx of the 5th finger" + } + }, + { + "type": { + "id": "HP:0012814", + "label": "Bilateral breast hypoplasia" + } + }, + { + "type": { + "id": "HP:0000046", + "label": "Small scrotum" + } + }, + { + "type": { + "id": "HP:0030011", + "label": "Imperforate hymen" + } + }, + { + "type": { + "id": "HP:0040070", + "label": "Abnormal upper limb bone morphology" + } + }, + { + "type": { + "id": "HP:0001167", + "label": "Abnormal finger morphology" + } + }, + { + "type": { + "id": "HP:0001607", + "label": "Subglottic stenosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:181450", + "label": "Ulnar-Mammary syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:48:36.294702Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ulnar_agenesis_and_endocardial_fibroelastosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ulnar_agenesis_and_endocardial_fibroelastosis_patient_1.json new file mode 100644 index 000000000..34e75b203 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ulnar_agenesis_and_endocardial_fibroelastosis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ulnar_agenesis_and_endocardial_fibroelastosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001789", + "label": "Hydrops fetalis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:276822", + "label": "Ulnar agenesis and endocardial fibroelastosis" + } + } + ], + "metaData": { + "created": "2024-06-11T18:15:53.994913Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ulnar_hypoplasia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ulnar_hypoplasia_patient_1.json new file mode 100644 index 000000000..1ff21479f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ulnar_hypoplasia_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "ulnar_hypoplasia", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P68Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005011", + "label": "Mesomelic arm shortening" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:191440", + "label": "Ulnar hypoplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T20:12:19.690665Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ulnar_hypoplasia_with_mental_retardation_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ulnar_hypoplasia_with_mental_retardation_patient_1.json new file mode 100644 index 000000000..443f79636 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ulnar_hypoplasia_with_mental_retardation_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "ulnar_hypoplasia_with_mental_retardation", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001376", + "label": "Limitation of joint mobility" + } + }, + { + "type": { + "id": "HP:0006376", + "label": "Limited elbow flexion" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:276821", + "label": "Ulnar hypoplasia with mental retardation" + } + } + ], + "metaData": { + "created": "2024-06-11T17:52:11.026642Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Uncombable_hair_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Uncombable_hair_syndrome_1_patient_1.json new file mode 100644 index 000000000..eba71e32d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Uncombable_hair_syndrome_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "uncombable_hair_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002235", + "label": "Pili canaliculi" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:191480", + "label": "Uncombable hair syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:43:24.080752Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Uncombable_hair_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Uncombable_hair_syndrome_2_patient_1.json new file mode 100644 index 000000000..a5dc78121 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Uncombable_hair_syndrome_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "uncombable_hair_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030056", + "label": "Uncombable hair" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617251", + "label": "Uncombable hair syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:57:27.501749Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Uncombable_hair_syndrome_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Uncombable_hair_syndrome_3_patient_1.json new file mode 100644 index 000000000..114158efd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Uncombable_hair_syndrome_3_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "uncombable_hair_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + }, + { + "type": { + "id": "HP:0004779", + "label": "Brittle scalp hair" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617252", + "label": "Uncombable hair syndrome 3" + } + } + ], + "metaData": { + "created": "2024-06-11T19:33:24.941628Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Undritz_anomaly_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Undritz_anomaly_patient_1.json new file mode 100644 index 000000000..068e53da5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Undritz_anomaly_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "undritz_anomaly", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004821", + "label": "Hypersegmentation of neutrophil nuclei" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:191500", + "label": "Undritz anomaly" + } + } + ], + "metaData": { + "created": "2024-06-11T21:37:02.351758Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Unique_green_phenomenon_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Unique_green_phenomenon_patient_1.json new file mode 100644 index 000000000..ba6b69374 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Unique_green_phenomenon_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "unique_green_phenomenon", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000478", + "label": "Abnormality of the eye" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:314380", + "label": "Unique green phenomenon" + } + } + ], + "metaData": { + "created": "2024-06-11T20:11:59.221098Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Upington_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Upington_disease_patient_1.json new file mode 100644 index 000000000..75c49f973 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Upington_disease_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "upington_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005701", + "label": "Multiple enchondromatosis" + } + }, + { + "type": { + "id": "HP:0003365", + "label": "Arthralgia of the hip" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:191520", + "label": "Upington disease" + } + } + ], + "metaData": { + "created": "2024-06-11T20:02:52.211276Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Urbach_Wiethe_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Urbach_Wiethe_disease_patient_1.json new file mode 100644 index 000000000..0b10dc5ee --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Urbach_Wiethe_disease_patient_1.json @@ -0,0 +1,98 @@ +{ + "id": "urbach-wiethe_disease", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P1Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002121", + "label": "Generalized non-motor (absence) seizure" + } + }, + { + "type": { + "id": "HP:0200034", + "label": "Papule" + } + }, + { + "type": { + "id": "HP:0000962", + "label": "Hyperkeratosis" + } + }, + { + "type": { + "id": "HP:0005671", + "label": "Bilateral intracerebral calcifications" + } + }, + { + "type": { + "id": "HP:0007777", + "label": "Chorioretinal scar" + } + }, + { + "type": { + "id": "HP:0010534", + "label": "Transient global amnesia" + } + }, + { + "type": { + "id": "HP:0034293", + "label": "Temporal lobe calcification" + } + }, + { + "type": { + "id": "HP:0001609", + "label": "Hoarse voice" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003593", + "label": "Infantile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:247100", + "label": "Urbach-Wiethe disease" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:07.098886Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ureter_bifid_or_double_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ureter_bifid_or_double_patient_1.json new file mode 100644 index 000000000..493e99137 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ureter_bifid_or_double_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ureter,_bifid_or_double", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000073", + "label": "Ureteral duplication" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:191550", + "label": "Ureter, bifid or double" + } + } + ], + "metaData": { + "created": "2024-06-11T19:08:49.383610Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ureter_cancer_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ureter_cancer_of_patient_1.json new file mode 100644 index 000000000..87a8ceaf3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ureter_cancer_of_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ureter,_cancer_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100516", + "label": "Neoplasm of the ureter" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:191600", + "label": "Ureter, cancer of" + } + } + ], + "metaData": { + "created": "2024-06-11T23:26:47.731287Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Uridine_5_prime_monophosphate_hydrolase_deficiency_hemolytic_anemiadue_to_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Uridine_5_prime_monophosphate_hydrolase_deficiency_hemolytic_anemiadue_to_patient_1.json new file mode 100644 index 000000000..50451ba3f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Uridine_5_prime_monophosphate_hydrolase_deficiency_hemolytic_anemiadue_to_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "uridine_5-prime_monophosphate_hydrolase_deficiency,_hemolytic_anemiadue_to", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:6000240", + "label": "Reduced circulating pyrimidine 5-prime-nucleotidase activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:266120", + "label": "Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemiadue to" + } + } + ], + "metaData": { 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"urocanase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0002342", + "label": "Intellectual disability, moderate" + } + }, + { + "type": { + "id": "HP:0002136", + "label": "Broad-based gait" + } + }, + { + "type": { + "id": "HP:0002345", + "label": "Action tremor" + } + }, + { + "type": { + "id": "HP:0000718", + "label": "Aggressive behavior" + } + }, + { + "type": { + "id": "HP:0012237", + "label": "Urocanic aciduria" + } + }, + { + "type": { + "id": "HP:0002066", + "label": "Gait ataxia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:276880", + "label": "Urocanase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T19:38:44.525635Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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"namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Urofacial_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Urofacial_syndrome_patient_1.json new file mode 100644 index 000000000..69ad34b6d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Urofacial_syndrome_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "urofacial_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000126", + "label": "Hydronephrosis" + } + }, + { + "type": { + "id": "HP:0002019", + "label": "Constipation" + } + }, + { + "type": { + "id": "HP:0000796", + "label": "Urethral obstruction" + } + }, + { + "type": { + "id": "HP:0005346", + "label": "Abnormal facial expression" + } + }, + { + "type": { + "id": "HP:0010957", + "label": "Congenital posterior urethral valve" + } + }, + { + "type": { + "id": "HP:4000035", + "label": "Primary obstructive megaureter" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:236730", + "label": "Urofacial syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:37:14.392131Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Urticaria_aquagenic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Urticaria_aquagenic_patient_1.json new file mode 100644 index 000000000..d5fd8ff97 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Urticaria_aquagenic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "urticaria,_aquagenic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001025", + "label": "Urticaria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:191850", + "label": "Urticaria, aquagenic" + } + } + ], + "metaData": { + "created": "2024-06-11T21:43:26.886143Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Urticaria_familial_localized_heat_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Urticaria_familial_localized_heat_patient_1.json new file mode 100644 index 000000000..e4d3535a9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Urticaria_familial_localized_heat_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "urticaria,_familial_localized_heat", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001025", + "label": "Urticaria" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:191950", + "label": "Urticaria, familial localized heat" + } + } + ], + "metaData": { + "created": "2024-06-11T22:57:18.202605Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Uruguay_faciocardiomusculoskeletal_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Uruguay_faciocardiomusculoskeletal_syndrome_patient_1.json new file mode 100644 index 000000000..a8cd60b09 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Uruguay_faciocardiomusculoskeletal_syndrome_patient_1.json @@ -0,0 +1,225 @@ +{ + "id": "uruguay_faciocardiomusculoskeletal_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003712", + "label": "Skeletal muscle hypertrophy" + }, + "modifiers": [ + { + "id": "HP:0012828", + "label": "Severe" + } + ] + }, + { + "type": { + "id": "HP:0000574", + "label": "Thick eyebrow" + } + }, + { + "type": { + "id": "HP:0008141", + "label": "Dislocation of toes" + } + }, + { + "type": { + "id": "HP:0001712", + "label": "Left ventricular hypertrophy" + } + }, + { + "type": { + "id": "HP:0000475", + "label": "Broad neck" + } + }, + { + "type": { + "id": "HP:0001822", + "label": "Hallux valgus" + } + }, + { + "type": { + "id": "HP:0430028", + "label": "Hyperplasia of the maxilla" + } + }, + { + "type": { + "id": "HP:0001374", + "label": "Congenital hip dislocation" + } + }, + { + "type": { + "id": "HP:0001640", + "label": "Cardiomegaly" + } + }, + { + "type": { + "id": "HP:0012385", + "label": "Camptodactyly" + } + }, + { + "type": { + "id": "HP:0000494", + "label": "Downslanted palpebral fissures" + } + }, + { + "type": { + "id": "HP:0000339", + "label": "Pugilistic facies" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0031956", + "label": "Elevated circulating aspartate aminotransferase concentration" + } + }, + { + "type": { + "id": "HP:0000368", + "label": "Low-set, posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0000308", + "label": "Microretrognathia" + } + }, + { + "type": { + "id": "HP:0000929", + "label": "Abnormal skull morphology" + } + }, + { + "type": { + "id": "HP:0001723", + "label": "Restrictive cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0030235", + "label": "Extremely elevated creatine kinase" + } + }, + { + "type": { + "id": "HP:0010674", + "label": "Abnormal curvature of the vertebral column" + } + }, + { + "type": { + "id": "HP:0001621", + "label": "Weak voice" + } + }, + { + "type": { + "id": "HP:0000664", + "label": "Synophrys" + } + }, + { + "type": { + "id": "HP:0002751", + "label": "Kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0009473", + "label": "Joint contracture of the hand" + } + }, + { + "type": { + "id": "HP:0000232", + "label": "Everted lower lip vermilion" + } + }, + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + }, + "modifiers": [ + { + "id": "HP:0003676", + "label": "Progressive" + } + ] + }, + { + "type": { + "id": "HP:0031295", + "label": "Left atrial enlargement" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300280", + "label": "Uruguay faciocardiomusculoskeletal syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:56:54.446911Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0030499", + "label": "Macular drusen" + } + }, + { + "type": { + "id": "HP:0030641", + "label": "Incomplete congenital stationary night blindness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618632", + "label": "Usher syndrome, type 1M" + } + } + ], + "metaData": { + "created": "2024-06-11T21:12:32.131734Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IC_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IC_patient_1.json new file mode 100644 index 000000000..6deec6d3b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IC_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "usher_syndrome,_type_ic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008527", + "label": "Congenital sensorineural hearing impairment" + }, + "modifiers": [ + { + "id": "HP:0012829", + "label": "Profound" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:276904", + "label": "Usher syndrome, type IC" + } + } + ], + "metaData": { + "created": "2024-06-11T22:10:10.112191Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IE_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "usher_syndrome,_type_ie", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008568", + "label": "Vestibular areflexia" + } + }, + { + "type": { + "id": "HP:0031172", + "label": "Sectoral retinitis pigmentosa" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602097", + "label": "Usher syndrome, type IE" + } + } + ], + "metaData": { + "created": "2024-06-11T22:37:44.044255Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IF_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IF_patient_1.json new file mode 100644 index 000000000..f39642947 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IF_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "usher_syndrome,_type_if", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031629", + "label": "Impaired tandem gait" + } + }, + { + "type": { + "id": "HP:0008527", + "label": "Congenital sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0007947", + "label": "Pericentral retinitis pigmentosa" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602083", + "label": "Usher syndrome, type IF" + } + } + ], + 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+1,45 @@ +{ + "id": "usher_syndrome,_type_ig", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606943", + "label": "Usher syndrome, type IG" + } + } + ], + "metaData": { + "created": "2024-06-11T19:52:32.880733Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IIA_patient_1.json new file mode 100644 index 000000000..0706c9a0d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IIA_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "usher_syndrome,_type_iia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:276901", + "label": "Usher syndrome, type IIA" + } + } + ], + "metaData": { + "created": "2024-06-11T21:43:41.277591Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IIC_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IIC_patient_1.json new file mode 100644 index 000000000..d2de59fe5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IIC_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "usher_syndrome,_type_iic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008527", + "label": "Congenital sensorineural hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:605472", + "label": "Usher syndrome, type IIC" + } + } + ], + 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-0,0 +1,50 @@ +{ + "id": "usher_syndrome,_type_iid", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P27Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611383", + "label": "Usher syndrome, type IID" + } + } + ], + "metaData": { + "created": "2024-06-11T20:32:38.153816Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IIIA_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IIIA_patient_1.json new file mode 100644 index 000000000..4ffbdd3f6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IIIA_patient_1.json @@ -0,0 +1,68 @@ +{ + "id": "usher_syndrome,_type_iiia", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P14Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007663", + "label": "Reduced visual acuity" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0000510", + "label": "Rod-cone dystrophy" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003621", + "label": "Juvenile onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:276902", + "label": "Usher syndrome, type IIIA" + } + } + ], + "metaData": { + "created": "2024-06-11T21:19:44.115890Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IIIB_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IIIB_patient_1.json new file mode 100644 index 000000000..8a327ef01 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IIIB_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "usher_syndrome,_type_iiib", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + "id": "HP:0007083", + "label": "Hyperactive patellar reflex" + } + }, + { + "type": { + "id": "HP:0007221", + "label": "Progressive truncal ataxia" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0032989", + "label": "Delayed ability to roll over" + } + }, + { + "type": { + "id": "HP:0007747", + "label": "Monocular horizontal nystagmus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614504", + "label": "Usher syndrome, type IIIB" + } + } + ], + "metaData": { + "created": "2024-06-11T18:25:38.658566Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype 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"Motor delay" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614869", + "label": "Usher syndrome, type IJ" + } + } + ], + "metaData": { + "created": "2024-06-11T18:30:33.045378Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IK_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IK_patient_1.json new file mode 100644 index 000000000..bc17c6aa1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IK_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "usher_syndrome,_type_ik", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007947", + "label": "Pericentral retinitis pigmentosa" + } + }, + { + "type": { + "id": "HP:4000033", + "label": "Non-spinning vertigo" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614990", + "label": "Usher syndrome, type IK" + } + } + ], + "metaData": { + "created": "2024-06-11T20:30:13.880951Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IV_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IV_patient_1.json new file mode 100644 index 000000000..afdf1cec6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_IV_patient_1.json @@ -0,0 +1,62 @@ +{ + "id": "usher_syndrome,_type_iv", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P52Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030631", + "label": "Hyperautofluorescent macular lesion" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0007791", + "label": "Patchy atrophy of the retinal pigment epithelium" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618144", + "label": "Usher syndrome, type IV" + } + } + ], + "metaData": { + "created": "2024-06-11T22:31:42.432070Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_I_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_I_patient_1.json new file mode 100644 index 000000000..e61cc648b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Usher_syndrome_type_I_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "usher_syndrome,_type_i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000639", + "label": "Nystagmus" + } + }, + { + "type": { + "id": "HP:0000550", + "label": "Undetectable electroretinogram" + } + }, + { + "type": { + "id": "HP:0000572", + "label": "Visual loss" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:276900", + "label": "Usher syndrome, type I" + } + } + ], + "metaData": { + "created": "2024-06-11T21:32:55.339465Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in 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"HP:0030212", + "label": "Collectionism" + } + }, + { + "type": { + "id": "HP:0011220", + "label": "Prominent forehead" + } + }, + { + "type": { + "id": "HP:0012803", + "label": "Anisometropia" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0030821", + "label": "Hooded lower eyelid" + } + }, + { + "type": { + "id": "HP:0006829", + "label": "Severe muscular hypotonia" + } + }, + { + "type": { + "id": "HP:0032807", + "label": "Neonatal seizure" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + }, + { + "type": { + "id": "HP:0000716", + "label": "Depression" + } + }, + { + "type": { + "id": "HP:6000029", + "label": "Social Anxiety" + } + }, + { + "type": { + "id": "HP:0012758", + "label": "Neurodevelopmental delay" + } + }, + { + "type": { + "id": "HP:0002938", + "label": "Lumbar hyperlordosis" + } + }, + { + "type": { + "id": "HP:0000717", + "label": "Autism" + } + }, + { + "type": { + "id": "HP:0031775", + "label": "Neurogenic strabismus" + } + }, + { + "type": { + "id": "HP:0012167", + "label": "Hair-pulling" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619467", + "label": "Usmani-Riazuddin syndrome, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T21:27:54.528917Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Usmani_Riazuddin_syndrome_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Usmani_Riazuddin_syndrome_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..45122bf61 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Usmani_Riazuddin_syndrome_autosomal_recessive_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "usmani-riazuddin_syndrome,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000336", + "label": "Prominent supraorbital ridges" + } + }, + { + "type": { + "id": "HP:0000718", + "label": "Aggressive behavior" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0000767", + "label": "Pectus excavatum" + } + }, + { + "type": { + "id": "HP:0000358", + "label": "Posteriorly rotated ears" + } + }, + { + "type": { + "id": "HP:0001257", + "label": "Spasticity" + } + }, + { + "type": { + "id": "HP:0001250", + "label": "Seizure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619548", + "label": "Usmani-Riazuddin syndrome, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T23:43:55.129918Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Uterine_anomalies_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Uterine_anomalies_patient_1.json new file mode 100644 index 000000000..653dd2254 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Uterine_anomalies_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "uterine_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000130", + "label": "Abnormality of the uterus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:192000", + "label": "Uterine anomalies" + } + } + ], + "metaData": { + "created": "2024-06-11T19:57:07.200632Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + 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{ + "id": "HP:0007716", + "label": "Uveal melanoma" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606660", + "label": "Uveal melanoma, susceptibility to, 1" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:09.609808Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Uvula_bifid_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Uvula_bifid_patient_1.json new file mode 100644 index 000000000..0f8149f49 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Uvula_bifid_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "uvula,_bifid", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000193", + "label": "Bifid uvula" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:192100", + "label": "Uvula, bifid" + } + } + ], + "metaData": { + "created": "2024-06-11T17:43:14.247081Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/VACTERL_association_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/VACTERL_association_X_linked_patient_1.json new file mode 100644 index 000000000..0b9767d49 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/VACTERL_association_X_linked_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "vacterl_association,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002089", + "label": "Pulmonary hypoplasia" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + }, + { + "type": { + "id": "HP:0001651", + "label": "Dextrocardia" + } + }, + { + "type": { + "id": "HP:0005301", + "label": "Persistent left superior vena cava" + } + }, + { + "type": { + "id": "HP:0002032", + "label": "Esophageal atresia" + } + }, + { + "type": { + "id": "HP:0010963", + "label": "Absence of stomach bubble on fetal sonography" + }, + "onset": { + "ontologyClass": { + "id": "HP:0034197", + "label": "Third trimester onset" + } + } + }, + { + "type": { + "id": "HP:0002575", + "label": "Tracheoesophageal fistula" + } + }, + { + "type": { + "id": "HP:0002023", + "label": "Anal atresia" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0000238", + "label": "Hydrocephalus" + } + }, + { + "type": { + "id": "HP:0009623", + "label": "Proximal placement of thumb" + } + }, + { + "type": { + "id": "HP:0025423", + "label": "Abnormal larynx morphology" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + }, + { + "type": { + "id": "HP:0010767", + "label": "Sacrococcygeal pilonidal abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:314390", + "label": "VACTERL association, X-linked" + } + } + ], + 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"subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001324", + "label": "Muscle weakness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:277100", + "label": "VALINEMIA" + } + } + ], + "metaData": { + "created": "2024-06-11T23:05:24.916713Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/VEXAS_syndrome_somatic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/VEXAS_syndrome_somatic_patient_1.json new file mode 100644 index 000000000..0f7b345fe --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/VEXAS_syndrome_somatic_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "vexas_syndrome,_somatic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200035", + "label": "Skin plaque" + } + }, + { + "type": { + "id": "HP:0002113", + "label": "Pulmonary infiltrates" + } + }, + { + "type": { + "id": "HP:0033380", + "label": "Nasal chondritis" + } + }, + { + "type": { + "id": "HP:0001954", + "label": "Recurrent fever" + } + }, + { + "type": { + "id": "HP:0003565", + "label": "Elevated erythrocyte sedimentation rate" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0031688", + "label": "Erythroid dysplasia" + } + }, + { + "type": { + "id": "HP:0001877", + "label": "Abnormal erythrocyte morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:301054", + "label": "VEXAS syndrome, somatic" + } + } + ], + "metaData": { + "created": "2024-06-11T22:43:00.866789Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/VISS_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/VISS_syndrome_patient_1.json new file mode 100644 index 000000000..92d16c9d5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/VISS_syndrome_patient_1.json @@ -0,0 +1,434 @@ +{ + "id": "viss_syndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P63Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002857", + "label": "Genu valgum" + } + }, + { + "type": { + "id": "HP:0007643", + "label": "Peripheral tractional retinal detachment" + } + }, + { + "type": { + "id": "HP:0000023", + "label": "Inguinal hernia" + } + }, + { + "type": { + "id": "HP:0030680", + "label": "Abnormal cardiovascular system morphology" + } + }, + { + "type": { + "id": "HP:0031162", + "label": "Impaired oropharyngeal swallow response" + } + }, + { + "type": { + "id": "HP:0031643", + "label": "Fusiform ascending tubular aorta aneurysm" + } + }, + { + "type": { + "id": "HP:0100326", + "label": "Immunologic hypersensitivity" + } + }, + { + "type": { + "id": "HP:0007364", + "label": "Aplasia/Hypoplasia of the cerebrum" + } + }, + { + "type": { + "id": "HP:0004619", + "label": "Lumbar kyphoscoliosis" + } + }, + { + "type": { + "id": "HP:0001166", + "label": "Arachnodactyly" + } + }, + { + "type": { + "id": "HP:0005302", + "label": "Carotid artery tortuosity" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0011595", + "label": "Left aortic arch with retroesophageal right subclavian artery" + } + }, + { + "type": { + "id": "HP:0001537", + "label": "Umbilical hernia" + } + }, + { + "type": { + "id": "HP:4000067", + "label": "Iliac artery aneurysm" + } + }, + { + "type": { + "id": "HP:0008780", + "label": "Congenital bilateral hip dislocation" + }, + "modifiers": [ + { + "id": "HP:0031796", + "label": "Recurrent" + } + ] + }, + { + "type": { + "id": "HP:0001707", + "label": "Abnormal right ventricle 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+} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Van_Maldergem_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Van_Maldergem_syndrome_1_patient_1.json new file mode 100644 index 000000000..f62a4d1da --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Van_Maldergem_syndrome_1_patient_1.json @@ -0,0 +1,225 @@ +{ + "id": "van_maldergem_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032409", + "label": "Subcortical band heterotopia" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0001302", + "label": "Pachygyria" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0000089", + "label": "Renal hypoplasia" + } + }, + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Van_bogaert_hozay_syndrome_patient_1.json new file mode 100644 index 000000000..3486ce4fd --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Van_bogaert_hozay_syndrome_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "van_bogaert-hozay_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0000545", + "label": "Myopia" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0009433", + "label": "Osteolytic defects of the middle phalanx of the 3rd finger" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:277150", + "label": "Van bogaert-hozay syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:38:44.656387Z", + "createdBy": 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"subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001363", + "label": "Craniosynostosis" + } + }, + { + "type": { + "id": "HP:0006380", + "label": "Knee flexion contracture" + } + }, + { + "type": { + "id": "HP:0000444", + "label": "Convex nasal ridge" + } + }, + { + "type": { + "id": "HP:0001836", + "label": "Camptodactyly of toe" + } + }, + { + "type": { + "id": "HP:0001847", + "label": "Long hallux" + } + }, + { + "type": { + "id": "HP:0000581", + "label": "Blepharophimosis" + } + }, + { + "type": { + "id": "HP:0002987", + "label": "Elbow flexion contracture" + } + }, + { + "type": { + "id": "HP:0001166", + "label": "Arachnodactyly" + } + }, + { + "type": { + "id": "HP:0000430", + "label": "Underdeveloped nasal alae" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0010307", + "label": "Stridor" + } + }, + { + "type": { + "id": "HP:0000385", + "label": "Small earlobe" + } + }, + { + "type": { + "id": "HP:0000396", + "label": "Overfolded helix" + } + }, + { + "type": { + "id": "HP:0002980", + "label": "Femoral bowing" + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + } + }, + { + "type": { + "id": "HP:0002705", + "label": "High, narrow palate" + } + }, + { + "type": { + "id": "HP:0007628", + "label": "Mandibular condyle hypoplasia" + } + }, + { + "type": { + "id": "HP:0001167", + "label": "Abnormal finger morphology" + } + }, + { + "type": { + "id": "HP:0005916", + "label": "Abnormal metacarpal morphology" + } + }, + { + "type": { + "id": "HP:0001195", + "label": "Single umbilical artery" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0009473", + "label": "Joint contracture of the hand" + } + }, + { + "type": { + "id": "HP:0010668", + "label": "Abnormal zygomatic bone morphology" + } + }, + { + "type": { + "id": "HP:0003992", + "label": "Slender ulna" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + }, + { + "type": { + "id": "HP:0000460", + "label": "Narrow nose" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600920", + "label": "Van den Ende-Gupta syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:35:08.761828Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Van_den_bosch_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Van_den_bosch_syndrome_patient_1.json new file mode 100644 index 000000000..2c85ea06a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Van_den_bosch_syndrome_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "van_den_bosch_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000970", + "label": "Anhidrosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:314500", + "label": "Van den bosch syndrome" + } + } + ], + "metaData": { + "created": "2024-06-12T01:40:54.898193Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Van_der_woude_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Van_der_woude_syndrome_2_patient_1.json new file mode 100644 index 000000000..c344e9e02 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Van_der_woude_syndrome_2_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "van_der_woude_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009101", + "label": "Submucous cleft lip" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606713", + "label": "Van der woude syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:11:18.474092Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Van_maldergem_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Van_maldergem_syndrome_2_patient_1.json new file mode 100644 index 000000000..93ca3fe53 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Van_maldergem_syndrome_2_patient_1.json @@ -0,0 +1,147 @@ +{ + "id": "van_maldergem_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000327", + "label": "Hypoplasia of the maxilla" + } + }, + { + "type": { + "id": "HP:0000405", + "label": "Conductive hearing impairment" + } + }, + { + "type": { + "id": "HP:0000047", + "label": "Hypospadias" + } + }, + { + "type": { + "id": "HP:0000341", + "label": "Narrow forehead" + } + }, + { + "type": { + "id": "HP:0005280", + "label": "Depressed nasal bridge" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000286", + "label": "Epicanthus" + } + }, + { + "type": { + "id": "HP:0011800", + "label": "Midface retrusion" + } + }, + { + "type": { + "id": "HP:0000689", + "label": "Dental malocclusion" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0002557", + "label": "Hypoplastic nipples" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0010537", + "label": "Wide cranial sutures" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0012373", + "label": "Abnormal eye physiology" + } + }, + { + "type": { + "id": "HP:0031139", + "label": "Frog-leg posture" + } + }, + { + "type": { + "id": "HP:0009890", + "label": "High anterior hairline" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615546", + "label": "Van maldergem syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T17:43:10.828624Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Varicella_severe_recurrent_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Varicella_severe_recurrent_patient_1.json new file mode 100644 index 000000000..12b62b2ad --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Varicella_severe_recurrent_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "varicella,_severe_recurrent", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005428", + "label": "Severe recurrent varicella" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600670", + "label": "Varicella, severe recurrent" + } + } + ], + "metaData": { + "created": "2024-06-11T20:11:53.695789Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Varicose_veins_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Varicose_veins_patient_1.json new file mode 100644 index 000000000..dbb8ee2d8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Varicose_veins_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "varicose_veins", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002619", + "label": "Varicose veins" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:192200", + "label": "Varicose veins" + } + } + ], + "metaData": { + "created": "2024-06-11T19:38:20.868884Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Variegate_porphyria_childhood_onset_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Variegate_porphyria_childhood_onset_patient_1.json new file mode 100644 index 000000000..84ec55a2e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Variegate_porphyria_childhood_onset_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "variegate_porphyria,_childhood-onset", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200041", + "label": "Skin erosion" + } + }, + { + "type": { + "id": "HP:0002750", + "label": "Delayed skeletal maturation" + } + }, + { + "type": { + "id": "HP:0001030", + "label": "Fragile skin" + } + }, + { + "type": { + "id": "HP:0008066", + "label": "Abnormal blistering of the skin" + } + }, + { + "type": { + "id": "HP:0000992", + "label": "Cutaneous photosensitivity" + } + }, + { + "type": { + "id": "HP:0010049", + "label": "Short metacarpal" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0009381", + "label": "Short finger" + } + }, + { + "type": { + "id": "HP:0034283", + "label": "Increased fecal protoporphyrin concentration" + } + }, + { + "type": { + "id": "HP:0001056", + "label": "Milia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620483", + "label": "Variegate porphyria, childhood-onset" + } + } + ], + "metaData": { + "created": "2024-06-11T23:14:59.365693Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vas_deferens_congenital_bilateral_aplasia_of_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vas_deferens_congenital_bilateral_aplasia_of_X_linked_patient_1.json new file mode 100644 index 000000000..5ee32de1f --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vas_deferens_congenital_bilateral_aplasia_of_X_linked_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "vas_deferens,_congenital_bilateral_aplasia_of,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + }, + { + "type": { + "id": "HP:0034812", + "label": "Spermiation failure" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300985", + "label": "Vas deferens, congenital bilateral aplasia of, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T23:46:07.942977Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vas_deferens_congenital_bilateral_aplasia_of_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vas_deferens_congenital_bilateral_aplasia_of_patient_1.json new file mode 100644 index 000000000..a7f547fc0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vas_deferens_congenital_bilateral_aplasia_of_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "vas_deferens,_congenital_bilateral_aplasia_of", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012873", + "label": "Absent vas deferens" + } + }, + { + "type": { + "id": "HP:0003251", + "label": "Male infertility" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:277180", + "label": "Vas deferens, congenital bilateral aplasia of" + } + } + ], + "metaData": { + "created": "2024-06-11T19:24:56.503923Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vascular_hyalinosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vascular_hyalinosis_patient_1.json new file mode 100644 index 000000000..caa0835f9 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vascular_hyalinosis_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "vascular_hyalinosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002573", + "label": "Hematochezia" + } + }, + { + "type": { + "id": "HP:0002216", + "label": "Premature graying of hair" + } + }, + { + "type": { + "id": "HP:0002014", + "label": "Diarrhea" + } + }, + { + "type": { + "id": "HP:0002024", + "label": "Malabsorption" + } + }, + { + "type": { + "id": "HP:0007045", + "label": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vascular_malformation_primary_intraosseous_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vascular_malformation_primary_intraosseous_patient_1.json new file mode 100644 index 000000000..1af9f8a2b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vascular_malformation_primary_intraosseous_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "vascular_malformation,_primary_intraosseous", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0410276", + "label": "Supraumbilical raphe" + } + }, + { + "type": { + "id": "HP:0000586", + "label": "Shallow orbits" + } + }, + { + "type": { + "id": "HP:0001537", + "label": "Umbilical hernia" + } + }, + { + "type": { + "id": "HP:0010991", + "label": "Abnormal morphology of the abdominal musculature" + } + }, + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + } + ], + "diseases": [ + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ventricular_septal_defect_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ventricular_septal_defect_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011682", + "label": "Perimembranous ventricular septal defect" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614431", + "label": "Ventricular septal defect 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:22:51.499186Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ventricular_septal_defect_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ventricular_septal_defect_3_patient_1.json new file mode 100644 index 000000000..a5fec1087 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ventricular_septal_defect_3_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "ventricular_septal_defect_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal defect" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614432", + "label": "Ventricular septal defect 3" + } + } + ], + "metaData": { + "created": "2024-06-11T21:47:22.296692Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ventricular_tachycardia_catecholaminergic_polymorphic_1_with_or_without_atrial_dysfunction_and_or_dilated_cardiomyopathy_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "ventricular_tachycardia,_catecholaminergic_polymorphic,_1,_with_or_without_atrial_dysfunction_and/or_dilated_cardiomyopathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001645", + "label": "Sudden cardiac death" + } + }, + { + "type": { + "id": "HP:0034040", + "label": "Bidirectional ventricular tachycardia" + }, + "modifiers": [ + { + "id": "HP:0025377", + "label": "Triggered by exertion" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604772", + "label": "Ventricular tachycardia, catecholaminergic polymorphic, 1, with or without atrial dysfunction and/or dilated cardiomyopathy" + } + } + ], + "metaData": { + "created": "2024-06-11T20:55:13.160016Z", + "createdBy": "phenotype2phenopacket", + "resources": 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"id": "ventricular_tachycardia,_catecholaminergic_polymorphic,_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + }, + { + "type": { + "id": "HP:0001688", + "label": "Sinus bradycardia" + } + }, + { + "type": { + "id": "HP:0002199", + "label": "Hypocalcemic seizures" + } + }, + { + "type": { + "id": "HP:0011675", + "label": "Arrhythmia" + }, + "modifiers": [ + { + "id": "HP:0025377", + "label": "Triggered by exertion" + } + ] + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:611938", + "label": "Ventricular tachycardia, catecholaminergic polymorphic, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T18:11:09.759013Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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"phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ventricular_tachycardia_catecholaminergic_polymorphic_4_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ventricular_tachycardia_catecholaminergic_polymorphic_4_patient_1.json new file mode 100644 index 000000000..15cdc5382 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ventricular_tachycardia_catecholaminergic_polymorphic_4_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "ventricular_tachycardia,_catecholaminergic_polymorphic,_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0012668", + "label": "Vasovagal syncope" + } + }, + { + "type": { + "id": "HP:0011675", + "label": "Arrhythmia" + } + }, + { + "type": { + "id": "HP:0011675", + "label": "Arrhythmia" + } + } + ], + "diseases": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ventricular_tachycardia_catecholaminergic_polymorphic_5_with_or_without_muscle_weakness_patient_1.json new file mode 100644 index 000000000..2ef9eac28 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ventricular_tachycardia_catecholaminergic_polymorphic_5_with_or_without_muscle_weakness_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "ventricular_tachycardia,_catecholaminergic_polymorphic,_5,_with_or_without_muscle_weakness", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031628", + "label": "Aborted sudden cardiac death" + } + }, + { + "type": { + "id": "HP:0003694", + "label": "Late-onset proximal muscle weakness" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615441", + "label": "Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness" + } + } + ], + "metaData": { + "created": "2024-06-11T20:54:09.781692Z", + 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"ventricular_tachycardia,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004751", + "label": "Paroxysmal ventricular tachycardia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:192605", + "label": "Ventricular tachycardia, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T19:23:37.403645Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ventriculomegaly_and_arthrogryposis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ventriculomegaly_and_arthrogryposis_patient_1.json new file mode 100644 index 000000000..479220033 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ventriculomegaly_and_arthrogryposis_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "ventriculomegaly_and_arthrogryposis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007100", + "label": "Progressive ventriculomegaly" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + }, + { + "type": { + "id": "HP:0003049", + "label": "Ulnar deviation of the wrist" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + }, + { + "type": { + "id": "HP:0034392", + "label": "Joint contracture" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + }, + { + "type": { + "id": "HP:0001760", + "label": "Abnormal foot morphology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + }, + { + "type": { + "id": "HP:0011283", + "label": "Abnormal metencephalon morphology" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011461", + "label": "Fetal onset" + } + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619501", + "label": "Ventriculomegaly and arthrogryposis" + } + } + ], + "metaData": { + "created": "2024-06-11T22:26:26.030467Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ventriculomegaly_with_cystic_kidney_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ventriculomegaly_with_cystic_kidney_disease_patient_1.json new file mode 100644 index 000000000..ce07080d7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ventriculomegaly_with_cystic_kidney_disease_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "ventriculomegaly_with_cystic_kidney_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0002343", + "label": "Normal pressure hydrocephalus" + } + }, + { + "type": { + "id": "HP:0001561", + "label": "Polyhydramnios" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:219730", + "label": "Ventriculomegaly with cystic kidney disease" + } + } + ], + "metaData": { + "created": "2024-06-11T21:14:13.880170Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Ventriculomegaly_with_defects_of_the_radius_and_kidney_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ventriculomegaly_with_defects_of_the_radius_and_kidney_patient_1.json new file mode 100644 index 000000000..5823c099e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Ventriculomegaly_with_defects_of_the_radius_and_kidney_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "ventriculomegaly_with_defects_of_the_radius_and_kidney", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000086", + "label": "Ectopic kidney" + } + }, + { + "type": { + "id": "HP:0002617", + "label": "Vascular dilatation" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602200", + "label": "Ventriculomegaly with defects of the radius and kidney" + } + } + ], + "metaData": { + "created": "2024-06-11T19:18:27.296730Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Venular_insufficiency_systemic_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Venular_insufficiency_systemic_patient_1.json new file mode 100644 index 000000000..bb223b0f6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Venular_insufficiency_systemic_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "venular_insufficiency,_systemic", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001626", + "label": "Abnormality of the cardiovascular system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:192700", + "label": "Venular insufficiency, systemic" + } + } + ], + "metaData": { + "created": "2024-06-11T18:41:17.537984Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Verheij_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Verheij_syndrome_patient_1.json new file mode 100644 index 000000000..07afe28b3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Verheij_syndrome_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "verheij_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0000107", + "label": "Renal cyst" + } + }, + { + "type": { + "id": "HP:0002937", + "label": "Hemivertebrae" + } + }, + { + "type": { + "id": "HP:0001518", + "label": "Small for gestational age" + } + }, + { + "type": { + "id": "HP:0000463", + "label": "Anteverted nares" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0011821", + "label": "Abnormal facial skeleton morphology" + } + }, + { + "type": { + "id": "HP:0000341", + "label": "Narrow forehead" + } + }, + { + "type": { + "id": "HP:0000470", + "label": "Short neck" + } + }, + { + "type": { + "id": "HP:0000455", + "label": "Broad nasal tip" + } + }, + { + "type": { + "id": "HP:0002011", + "label": "Morphological central nervous system abnormality" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615583", + "label": "Verheij syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:34:49.530205Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertebral_anomalies_and_variable_endocrine_and_T_cell_dysfunction_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertebral_anomalies_and_variable_endocrine_and_T_cell_dysfunction_patient_1.json new file mode 100644 index 000000000..e4572144b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertebral_anomalies_and_variable_endocrine_and_T_cell_dysfunction_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "vertebral_anomalies_and_variable_endocrine_and_t-cell_dysfunction", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009918", + "label": "Ectopia pupillae" + } + }, + { + "type": { + "id": "HP:0000369", + "label": "Low-set ears" + } + }, + { + "type": { + "id": "HP:0011772", + "label": "Abnormal thyroid morphology" + } + }, + { + "type": { + "id": "HP:0000829", + "label": "Hypoparathyroidism" + } + }, + { + "type": { + "id": "HP:0011025", + "label": "Abnormal cardiovascular system physiology" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0031771", + "label": "Epicanthus tarsalis" + } + }, + { + "type": { + "id": "HP:0011603", + "label": "Congenital malformation of the great arteries" + } + }, + { + "type": { + "id": "HP:5201015", + "label": "Craniofacial cleft" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618223", + "label": "Vertebral anomalies and variable endocrine and T-cell dysfunction" + } + } + ], + "metaData": { + "created": "2024-06-11T21:22:00.393906Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertebral_cardiac_renal_and_limb_defects_syndrome_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertebral_cardiac_renal_and_limb_defects_syndrome_1_patient_1.json new file mode 100644 index 000000000..db165de6e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertebral_cardiac_renal_and_limb_defects_syndrome_1_patient_1.json @@ -0,0 +1,111 @@ +{ + "id": "vertebral,_cardiac,_renal,_and_limb_defects_syndrome_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001631", + "label": "Atrial septal defect" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0010305", + "label": "Absence of the sacrum" + } + }, + { + "type": { + "id": "HP:0005950", + "label": "Laryngeal web" + } + }, + { + "type": { + "id": "HP:0002144", + "label": "Tethered cord" + } + }, + { + "type": { + "id": "HP:0000376", + "label": "Incomplete partition of the cochlea type II" + } + }, + { + "type": { + "id": "HP:0012821", + "label": "Unilateral vocal cord paresis" + } + }, + { + "type": { + "id": "HP:0000089", + "label": "Renal hypoplasia" + } + }, + { + "type": { + "id": "HP:0012759", + "label": "Neurodevelopmental abnormality" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0002011", + "label": "Morphological central nervous system abnormality" + } + }, + { + "type": { + "id": "HP:0040195", + "label": "Decreased head circumference" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617660", + "label": "Vertebral, cardiac, renal, and limb defects syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:31:03.658227Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertebral_cardiac_renal_and_limb_defects_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertebral_cardiac_renal_and_limb_defects_syndrome_2_patient_1.json new file mode 100644 index 000000000..68756d2d3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertebral_cardiac_renal_and_limb_defects_syndrome_2_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "vertebral,_cardiac,_renal,_and_limb_defects_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000774", + "label": "Narrow chest" + } + }, + { + "type": { + "id": "HP:0000878", + "label": "11 pairs of ribs" + } + }, + { + "type": { + "id": "HP:0008905", + "label": "Rhizomelia" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0003422", + "label": "Vertebral segmentation defect" + } + }, + { + "type": { + "id": "HP:0000377", + "label": "Abnormal pinna morphology" + } + }, + { + "type": { + "id": "HP:0012211", + "label": "Abnormal renal physiology" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:617661", + "label": "Vertebral, cardiac, renal, and limb defects syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:46:14.063179Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertebral_cardiac_renal_and_limb_defects_syndrome_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertebral_cardiac_renal_and_limb_defects_syndrome_3_patient_1.json new file mode 100644 index 000000000..be80b68a0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertebral_cardiac_renal_and_limb_defects_syndrome_3_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "vertebral,_cardiac,_renal,_and_limb_defects_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003026", + "label": "Short long bone" + } + }, + { + "type": { + "id": "HP:0010306", + "label": "Short thorax" + } + }, + { + "type": { + "id": "HP:0004383", + "label": "Hypoplastic left heart" + } + }, + { + "type": { + "id": "HP:0031122", + "label": "Two-raphe bicuspid aortic valve" + } + }, + { + "type": { + "id": "HP:0005107", + "label": "Abnormal sacrum morphology" + } + }, + { + "type": { + "id": "HP:0004696", + "label": "Talipes cavus equinovarus" + } + }, + { + "type": { + "id": "HP:0010958", + "label": "Bilateral renal agenesis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618845", + "label": "Vertebral, cardiac, renal, and limb defects syndrome 3" + } + } + ], + "metaData": { + "created": "2024-06-11T18:43:32.542435Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertebral_cardiac_tracheoesophageal_renal_and_limb_defects_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertebral_cardiac_tracheoesophageal_renal_and_limb_defects_patient_1.json new file mode 100644 index 000000000..4438e6478 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertebral_cardiac_tracheoesophageal_renal_and_limb_defects_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "vertebral,_cardiac,_tracheoesophageal,_renal,_and_limb_defects", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000176", + "label": "Submucous cleft hard palate" + } + }, + { + "type": { + "id": "HP:0002032", + "label": "Esophageal atresia" + } + }, + { + "type": { + "id": "HP:0003316", + "label": "Butterfly vertebrae" + } + }, + { + "type": { + "id": "HP:0003298", + "label": "Spina bifida occulta" + } + }, + { + "type": { + "id": "HP:0004535", + "label": "Anterior cervical hypertrichosis" + } + }, + { + "type": { + "id": "HP:0100547", + "label": "Abnormal forebrain morphology" + } + }, + { + "type": { + "id": "HP:0000839", + "label": "Pituitary dwarfism" + } + }, + { + "type": { + "id": "HP:0000337", + "label": "Broad forehead" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619227", + "label": "Vertebral, cardiac, tracheoesophageal, renal, and limb defects" + } + } + ], + "metaData": { + "created": "2024-06-11T18:46:25.406296Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertebral_fusion_posterior_lumbosacral_with_blepharoptosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertebral_fusion_posterior_lumbosacral_with_blepharoptosis_patient_1.json new file mode 100644 index 000000000..1cba81041 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertebral_fusion_posterior_lumbosacral_with_blepharoptosis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "vertebral_fusion,_posterior_lumbosacral,_with_blepharoptosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005626", + "label": "Posterior fusion of lumbosacral vertebrae" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:192800", + "label": "Vertebral fusion, posterior lumbosacral, with blepharoptosis" + } + } + ], + "metaData": { + "created": "2024-06-11T21:29:01.190067Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + 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"vertebral_hypersegmentation_and_orofacial_anomalies", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0100334", + "label": "Unilateral cleft palate" + } + }, + { + "type": { + "id": "HP:0000176", + "label": "Submucous cleft hard palate" + } + }, + { + "type": { + "id": "HP:0000349", + "label": "Widow's peak" + } + }, + { + "type": { + "id": "HP:0011261", + "label": "Darwin tubercle of helix" + } + }, + { + "type": { + "id": "HP:0005815", + "label": "Supernumerary ribs" + } + }, + { + "type": { + "id": "HP:0100333", + "label": "Unilateral cleft lip" + } + }, + { + "type": { + "id": "HP:0008416", + "label": "Six lumbar vertebrae" + } + }, + { + "type": { + "id": "HP:0003691", + "label": "Scapular winging" + } + }, + { + "type": { + "id": "HP:0000767", + "label": "Pectus excavatum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619122", + "label": "Vertebral hypersegmentation and orofacial anomalies" + } + } + ], + "metaData": { + "created": "2024-06-11T19:49:48.998193Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertebral_hypoplasia_with_lumbar_kyphosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertebral_hypoplasia_with_lumbar_kyphosis_patient_1.json new file mode 100644 index 000000000..41de74553 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertebral_hypoplasia_with_lumbar_kyphosis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "vertebral_hypoplasia_with_lumbar_kyphosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008417", + "label": "Vertebral hypoplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:192900", + "label": "Vertebral hypoplasia with lumbar kyphosis" + } + } + ], + "metaData": { + "created": "2024-06-11T22:53:05.031815Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertical_talus_congenital_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertical_talus_congenital_patient_1.json new file mode 100644 index 000000000..5325ed5a0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vertical_talus_congenital_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "vertical_talus,_congenital", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008138", + "label": "Equinus calcaneus" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:192950", + "label": "Vertical talus, congenital" + } + } + ], + "metaData": { + "created": "2024-06-11T20:27:21.998553Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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"phenotypicFeatures": [ + { + "type": { + "id": "HP:0001195", + "label": "Single umbilical artery" + } + }, + { + "type": { + "id": "HP:0000218", + "label": "High palate" + } + }, + { + "type": { + "id": "HP:0001669", + "label": "Transposition of the great arteries" + } + }, + { + "type": { + "id": "HP:0000448", + "label": "Prominent nose" + } + }, + { + "type": { + "id": "HP:0008180", + "label": "Mildly elevated creatine kinase" + }, + "onset": { + "ontologyClass": { + "id": "HP:0011463", + "label": "Childhood onset" + } + } + }, + { + "type": { + "id": "HP:0000455", + "label": "Broad nasal tip" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + "type": { + "id": "HP:0002265", + "label": "Large fleshy ears" + } + }, + { + "type": { + "id": "HP:0005832", + "label": "Dysharmonic delayed bone age" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0012638", + "label": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Very_long_chain_acyl_CoA_dehydrogenase_deficiency_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "very_long-chain_acyl-coa_dehydrogenase_deficiency", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002572", + "label": "Episodic vomiting" + } + }, + { + "type": { + "id": "HP:0001640", + "label": "Cardiomegaly" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0002069", + "label": "Bilateral tonic-clonic seizure" + } + }, + { + "type": { + "id": "HP:0001397", + "label": "Hepatic steatosis" + } + }, + { + "type": { + "id": "HP:0003234", + "label": "Decreased circulating carnitine concentration" + } + }, + { + "type": { + "id": "HP:0001254", + "label": "Lethargy" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0001639", + "label": "Hypertrophic cardiomyopathy" + } + }, + { + "type": { + "id": "HP:0002020", + "label": "Gastroesophageal reflux" + } + }, + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0005943", + "label": "Respiratory arrest" + } + }, + { + "type": { + "id": "HP:0001404", + "label": "Hepatocellular necrosis" + } + }, + { + "type": { + "id": "HP:0003738", + "label": "Exercise-induced myalgia" + } + }, + { + "type": { + "id": "HP:0012664", + "label": "Reduced left ventricular ejection fraction" + } + }, + { + "type": { + "id": "HP:0033165", + "label": "Necrotizing enterocolitis" + } + }, + { + "type": { + "id": "HP:0008162", + "label": "Asymptomatic hyperammonemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:201475", + "label": "Very long-chain acyl-CoA dehydrogenase deficiency" + } + } + ], + "metaData": { + "created": "2024-06-11T19:16:06.202942Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vesicoureteral_reflux_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vesicoureteral_reflux_1_patient_1.json new file mode 100644 index 000000000..4ae4b338c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vesicoureteral_reflux_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "vesicoureteral_reflux_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000076", + "label": "Vesicoureteral reflux" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:193000", + "label": "Vesicoureteral reflux 1" + } + } + ], + "metaData": { + "created": "2024-06-11T23:02:50.064508Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vesicoureteral_reflux_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vesicoureteral_reflux_2_patient_1.json new file mode 100644 index 000000000..c358325e5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vesicoureteral_reflux_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "vesicoureteral_reflux_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000089", + "label": "Renal hypoplasia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:610878", + "label": "Vesicoureteral reflux 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:27:00.075840Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vesicoureteral_reflux_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vesicoureteral_reflux_3_patient_1.json new file mode 100644 index 000000000..e94d72535 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vesicoureteral_reflux_3_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "vesicoureteral_reflux_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000072", + "label": "Hydroureter" + } + }, + { + "type": { + "id": "HP:0000010", + "label": "Recurrent urinary tract infections" + } + }, + { + "type": { + "id": "HP:0033737", + "label": "Grade III vesicoureteral reflux" + } + }, + { + "type": { + "id": "HP:0012572", + "label": "Ureter duplex" + } + }, + { + "type": { + "id": "HP:0012210", + "label": "Abnormal renal morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613674", + "label": "Vesicoureteral reflux 3" + } + } + ], + "metaData": { + "created": "2024-06-12T02:25:22.779534Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vesicoureteral_reflux_8_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vesicoureteral_reflux_8_patient_1.json new file mode 100644 index 000000000..263e2def6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vesicoureteral_reflux_8_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "vesicoureteral_reflux_8", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0012786", + "label": "Recurrent cystitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615963", + "label": "Vesicoureteral reflux 8" + } + } + ], + "metaData": { + "created": "2024-06-11T17:48:22.764696Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vesicoureteral_reflux_X_linked_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vesicoureteral_reflux_X_linked_patient_1.json new file mode 100644 index 000000000..f646592d3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vesicoureteral_reflux_X_linked_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "vesicoureteral_reflux,_x-linked", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000076", + "label": "Vesicoureteral reflux" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:314550", + "label": "Vesicoureteral reflux, X-linked" + } + } + ], + "metaData": { + "created": "2024-06-11T19:58:58.169215Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vestibulocochlear_dysfunction_progressive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vestibulocochlear_dysfunction_progressive_patient_1.json new file mode 100644 index 000000000..e7ecae0e6 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vestibulocochlear_dysfunction_progressive_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "vestibulocochlear_dysfunction,_progressive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001730", + "label": "Progressive hearing impairment" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:193005", + "label": "Vestibulocochlear dysfunction, progressive" + } + } + ], + "metaData": { + "created": "2024-06-12T02:19:06.431192Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vestibulopathy_familial_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vestibulopathy_familial_patient_1.json new file mode 100644 index 000000000..273af4921 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vestibulopathy_familial_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "vestibulopathy,_familial", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002141", + "label": "Gait imbalance" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:193007", + "label": "Vestibulopathy, familial" + } + } + ], + "metaData": { + "created": "2024-06-11T23:32:58.137204Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vici_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vici_syndrome_patient_1.json new file mode 100644 index 000000000..b2fa9b2c0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vici_syndrome_patient_1.json @@ -0,0 +1,147 @@ +{ + "id": "vici_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005599", + "label": "Hypopigmentation of hair" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0001022", + "label": "Albinism" + } + }, + { + "type": { + "id": "HP:0001010", + "label": "Hypopigmentation of the skin" + } + }, + { + "type": { + "id": "HP:0001252", + "label": "Hypotonia" + } + }, + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001274", + "label": "Agenesis of corpus callosum" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0003236", + "label": "Elevated circulating creatine kinase concentration" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0002721", + "label": "Immunodeficiency" + } + }, + { + "type": { + "id": "HP:0002015", + "label": "Dysphagia" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + } + }, + { + "type": { + "id": "HP:0010636", + "label": "Schizencephaly" + } + }, + { + "type": { + "id": "HP:0002533", + "label": "Abnormal posturing" + } + }, + { + "type": { + "id": "HP:0009071", + "label": "Inflammatory myopathy" + } + }, + { + "type": { + "id": "HP:0000601", + "label": "Hypotelorism" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:242840", + "label": "Vici syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:12:46.446733Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Visceral_myopathy_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Visceral_myopathy_1_patient_1.json new file mode 100644 index 000000000..d6c0d770c --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Visceral_myopathy_1_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "visceral_myopathy_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002015", + "label": "Dysphagia" + } + }, + { + "type": { + "id": "HP:0032155", + "label": "Abdominal cramps" + } + }, + { + "type": { + "id": "HP:0011285", + "label": "Long-segment aganglionic megacolon" + } + }, + { + "type": { + "id": "HP:0011458", + "label": "Abdominal symptom" + } + }, + { + "type": { + "id": "HP:0012718", + "label": "Abnormal gastrointestinal tract morphology" + } + }, + { + "type": { + "id": "HP:0000126", + "label": "Hydronephrosis" + } + }, + { + "type": { + "id": "HP:0000021", + "label": "Megacystis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:155310", + "label": "Visceral myopathy 1" + } + } + ], + "metaData": { + "created": "2024-06-11T18:08:44.682788Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Visceral_myopathy_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Visceral_myopathy_2_patient_1.json new file mode 100644 index 000000000..9b988c47a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Visceral_myopathy_2_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "visceral_myopathy_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0031857", + "label": "Ineffective esophageal peristalsis" + } + }, + { + "type": { + "id": "HP:0033165", + "label": "Necrotizing enterocolitis" + } + }, + { + "type": { + "id": "HP:0002020", + "label": "Gastroesophageal reflux" + } + }, + { + "type": { + "id": "HP:0000021", + "label": "Megacystis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619350", + "label": "Visceral myopathy 2" + } + } + ], + "metaData": { + "created": "2024-06-11T19:20:55.760800Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Visceral_myopathy_familial_with_external_ophthalmoplegia_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Visceral_myopathy_familial_with_external_ophthalmoplegia_patient_1.json new file mode 100644 index 000000000..bf03241bf --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Visceral_myopathy_familial_with_external_ophthalmoplegia_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "visceral_myopathy,_familial,_with_external_ophthalmoplegia", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002578", + "label": "Gastroparesis" + } + }, + { + "type": { + "id": "HP:0032180", + "label": "Abnormal circulating metabolite concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:277320", + "label": "Visceral myopathy, familial, with external ophthalmoplegia" + } + } + ], + "metaData": { + "created": "2024-06-11T18:27:23.115237Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Visceral_neuropathy_familial_2_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Visceral_neuropathy_familial_2_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..81cd9735d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Visceral_neuropathy_familial_2_autosomal_recessive_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "visceral_neuropathy,_familial,_2,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001762", + "label": "Talipes equinovarus" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0000759", + "label": "Abnormal peripheral nervous system morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619465", + "label": "Visceral neuropathy, familial, 2, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T21:26:12.128807Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Visceral_neuropathy_familial_autosomal_recessive_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Visceral_neuropathy_familial_autosomal_recessive_patient_1.json new file mode 100644 index 000000000..81f1aeef2 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Visceral_neuropathy_familial_autosomal_recessive_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "visceral_neuropathy,_familial,_autosomal_recessive", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009830", + "label": "Peripheral neuropathy" + } + }, + { + "type": { + "id": "HP:0002803", + "label": "Congenital contracture" + } + }, + { + "type": { + "id": "HP:0100547", + "label": "Abnormal forebrain morphology" + } + }, + { + "type": { + "id": "HP:0000372", + "label": "Abnormal auditory canal morphology" + } + }, + { + "type": { + "id": "HP:0031704", + "label": "Abnormal ear physiology" + } + }, + { + "type": { + "id": "HP:0006844", + "label": "Absent patellar reflexes" + } + }, + { + "type": { + "id": "HP:0012332", + "label": "Abnormal autonomic nervous system physiology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:243180", + "label": "Visceral neuropathy, familial, autosomal recessive" + } + } + ], + "metaData": { + "created": "2024-06-11T20:56:48.723185Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vissers_Bodmer_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vissers_Bodmer_syndrome_patient_1.json new file mode 100644 index 000000000..89dfeee77 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vissers_Bodmer_syndrome_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "vissers-bodmer_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0001999", + "label": "Abnormal facial shape" + } + }, + { + "type": { + "id": "HP:0003397", + "label": "Generalized hypotonia due to defect at the neuromuscular junction" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619033", + "label": "Vissers-Bodmer syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:04:26.873419Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Visual_impairment_and_progressive_phthisis_bulbi_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Visual_impairment_and_progressive_phthisis_bulbi_patient_1.json new file mode 100644 index 000000000..3059fd2f4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Visual_impairment_and_progressive_phthisis_bulbi_patient_1.json @@ -0,0 +1,50 @@ +{ + "id": "visual_impairment_and_progressive_phthisis_bulbi", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P28Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000540", + "label": "Hypermetropia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:618283", + "label": "Visual impairment and progressive phthisis bulbi" + } + } + ], + "metaData": { + "created": "2024-06-11T23:01:07.030253Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitamin_A_metabolic_defect_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitamin_A_metabolic_defect_patient_1.json new file mode 100644 index 000000000..6c0b6346a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitamin_A_metabolic_defect_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "vitamin_a_metabolic_defect", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004905", + "label": "Reduced circulating vitamin A concentration" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:277350", + "label": "Vitamin A metabolic defect" + } + } + ], + "metaData": { + "created": "2024-06-11T20:42:22.551668Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitamin_D_dependent_rickets_type_2B_with_normal_vitamin_D_receptor_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitamin_D_dependent_rickets_type_2B_with_normal_vitamin_D_receptor_patient_1.json new file mode 100644 index 000000000..6d19a1e49 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitamin_D_dependent_rickets_type_2B_with_normal_vitamin_D_receptor_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "vitamin_d-dependent_rickets_type_2b_with_normal_vitamin_d_receptor", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003155", + "label": "Elevated circulating alkaline phosphatase concentration" + } + }, + { + "type": { + "id": "HP:0002748", + "label": "Rickets" + } + }, + { + "type": { + "id": "HP:0030839", + "label": "Knee pain" + } + }, + { + "type": { + "id": "HP:0002980", + "label": "Femoral bowing" + } + }, + { + "type": { + "id": "HP:0002752", + "label": "Sparse bone trabeculae" + } + }, + { + "type": { + "id": "HP:0002663", + "label": "Delayed epiphyseal ossification" + } + }, + { + "type": { + "id": "HP:0003103", + "label": "Abnormal cortical bone morphology" + } + }, + { + "type": { + "id": "HP:0011314", + "label": "Abnormal long bone morphology" + } + }, + { + "type": { + "id": "HP:0006414", + "label": "Distal tibial bowing" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600785", + "label": "Vitamin D-dependent rickets type 2B with normal vitamin D receptor" + } + } + ], + "metaData": { + "created": "2024-06-11T23:18:53.931653Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitamin_D_hydroxylation_deficient_rickets_type_1A_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitamin_D_hydroxylation_deficient_rickets_type_1A_patient_1.json new file mode 100644 index 000000000..290c667ca --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitamin_D_hydroxylation_deficient_rickets_type_1A_patient_1.json @@ -0,0 +1,135 @@ +{ + "id": "vitamin_d_hydroxylation-deficient_rickets,_type_1a", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000737", + "label": "Irritability" + } + }, + { + "type": { + "id": "HP:0003106", + "label": "Subperiosteal bone resorption" + } + }, + { + "type": { + "id": "HP:0002909", + "label": "Generalized aminoaciduria" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0003330", + "label": "Abnormal bone structure" + } + }, + { + "type": { + "id": "HP:0002199", + "label": "Hypocalcemic seizures" + } + }, + { + "type": { + "id": "HP:0000893", + "label": "Bulging of the costochondral junction" + } + }, + { + "type": { + "id": "HP:0003270", + "label": "Abdominal distention" + } + }, + { + "type": { + "id": "HP:0006414", + "label": "Distal tibial bowing" + } + }, + { + "type": { + "id": "HP:0010681", + "label": "Elevated intestinal alkaline phosphatase" + } + }, + { + "type": { + "id": "HP:0003850", + "label": "Upper-limb metaphyseal irregularity" + } + }, + { + "type": { + "id": "HP:0011314", + "label": "Abnormal long bone morphology" + } + }, + { + "type": { + "id": "HP:0003698", + "label": "Difficulty standing" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0034673", + "label": "Abnormal ankle morphology" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:264700", + "label": "Vitamin D hydroxylation-deficient rickets, type 1A" + } + } + ], + "metaData": { + "created": "2024-06-11T20:49:38.209890Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitamin_D_hydroxylation_deficient_rickets_type_1B_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitamin_D_hydroxylation_deficient_rickets_type_1B_patient_1.json new file mode 100644 index 000000000..b8471035d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitamin_D_hydroxylation_deficient_rickets_type_1B_patient_1.json @@ -0,0 +1,165 @@ +{ + "id": "vitamin_d_hydroxylation-deficient_rickets,_type_1b", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004492", + "label": "Widely patent fontanelles and sutures" + } + }, + { + "type": { + "id": "HP:0003397", + "label": "Generalized hypotonia due to defect at the neuromuscular junction" + } + }, + { + "type": { + "id": "HP:0000893", + "label": "Bulging of the costochondral junction" + } + }, + { + "type": { + "id": "HP:0011843", + "label": "Abnormal musculoskeletal physiology" + } + }, + { + "type": { + "id": "HP:0010580", + "label": "Enlarged epiphyses" + } + }, + { + "type": { + "id": "HP:0003472", + "label": "Hypocalcemic tetany" + } + }, + { + "type": { + "id": "HP:0001531", + "label": "Failure to thrive in infancy" + } + }, + { + "type": { + "id": "HP:0002653", + "label": "Bone pain" + } + }, + { + "type": { + "id": "HP:0009062", + "label": "Infantile axial hypotonia" + } + }, + { + "type": { + "id": "HP:0002992", + "label": "Abnormal tibia morphology" + } + }, + { + "type": { + "id": "HP:0006463", + "label": "Rickets of the lower limbs" + } + }, + { + "type": { + "id": "HP:0034673", + "label": "Abnormal ankle morphology" + } + }, + { + "type": { + "id": "HP:0012053", + "label": "Decreased circulating calcifediol concentration" + } + }, + { + "type": { + "id": "HP:0002979", + "label": "Bowing of the legs" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0000765", + "label": "Abnormal thorax morphology" + } + }, + { + "type": { + "id": "HP:0008285", + "label": "Transient hypophosphatemia" + } + }, + { + "type": { + "id": "HP:0011804", + "label": "Abnormal muscle physiology" + } + }, + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0002007", + "label": "Frontal bossing" + } + }, + { + "type": { + "id": "HP:0011849", + "label": "Abnormal bone ossification" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600081", + "label": "Vitamin D hydroxylation-deficient rickets, type 1B" + } + } + ], + "metaData": { + "created": "2024-06-11T21:38:27.436904Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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antigen" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:607473", + "label": "Vitamin K-dependent clotting factors, combined deficiency of, 2" + } + } + ], + "metaData": { + "created": "2024-06-11T21:30:54.600751Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitamin_d_dependent_rickets_type_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitamin_d_dependent_rickets_type_3_patient_1.json new file mode 100644 index 000000000..0f2773634 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitamin_d_dependent_rickets_type_3_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "vitamin_d-dependent_rickets,_type_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0012053", + "label": "Decreased circulating calcifediol concentration" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0031936", + "label": "Delayed ability to walk" + } + }, + { + "type": { + "id": "HP:0003021", + "label": "Metaphyseal cupping" + } + }, + { + "type": { + "id": "HP:0003015", + "label": "Flared metaphysis" + } + }, + { + "type": { + "id": "HP:0003111", + "label": "Abnormal blood ion concentration" + } + }, + { + "type": { + "id": "HP:0012052", + "label": "Low serum calcitriol" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619073", + "label": "Vitamin d-dependent rickets, type 3" + } + } + ], + "metaData": { + "created": "2024-06-11T22:07:02.722526Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitiligo_Associated_multiple_autoimmune_disease_susceptibility_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitiligo_Associated_multiple_autoimmune_disease_susceptibility_1_patient_1.json new file mode 100644 index 000000000..11546bb66 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitiligo_Associated_multiple_autoimmune_disease_susceptibility_1_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "vitiligo-associated_multiple_autoimmune_disease_susceptibility_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001045", + "label": "Vitiligo" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:606579", + "label": "Vitiligo-Associated multiple autoimmune disease susceptibility 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:25:25.002032Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitiligo_associated_multiple_autoimmune_disease_susceptibility_6_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitiligo_associated_multiple_autoimmune_disease_susceptibility_6_patient_1.json new file mode 100644 index 000000000..6c4328d03 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitiligo_associated_multiple_autoimmune_disease_susceptibility_6_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "vitiligo-associated_multiple_autoimmune_disease_susceptibility_6", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001045", + "label": "Vitiligo" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:193200", + "label": "Vitiligo-associated multiple autoimmune disease susceptibility 6" + } + } + ], + "metaData": { + "created": "2024-06-11T23:07:48.978416Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitreoretinochoroidopathy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitreoretinochoroidopathy_patient_1.json new file mode 100644 index 000000000..b4d01e647 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitreoretinochoroidopathy_patient_1.json @@ -0,0 +1,141 @@ +{ + "id": "vitreoretinochoroidopathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007902", + "label": "Vitreous hemorrhage" + } + }, + { + "type": { + "id": "HP:0030666", + "label": "Retinal neovascularization" + } + }, + { + "type": { + "id": "HP:0000519", + "label": "Developmental cataract" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0031720", + "label": "Simulated distance exotropia" + } + }, + { + "type": { + "id": "HP:0000551", + "label": "Color vision defect" + } + }, + { + "type": { + "id": "HP:0012231", + "label": "Exudative retinal detachment" + } + }, + { + "type": { + "id": "HP:0007985", + "label": "Retinal arteriolar occlusion" + } + }, + { + "type": { + "id": "HP:0012547", + "label": "Abnormal involuntary eye movements" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0008043", + "label": "Retinal arteriolar constriction" + } + }, + { + "type": { + "id": "HP:0000482", + "label": "Microcornea" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003577", + "label": "Congenital onset" + } + } + }, + { + "type": { + "id": "HP:0011518", + "label": "Dichromacy" + } + }, + { + "type": { + "id": "HP:0010698", + "label": "Nuclear pulverulent cataract" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:193220", + "label": "Vitreoretinochoroidopathy" + } + } + ], + "metaData": { + "created": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vitreoretinopathy_neovascular_inflammatory_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "vitreoretinopathy,_neovascular_inflammatory", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007778", + "label": "Posterior retinal neovascularization" + } + }, + { + "type": { + "id": "HP:0007902", + "label": "Vitreous hemorrhage" + } + }, + { + "type": { + "id": "HP:0007773", + "label": "Vitreoretinopathy" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:193235", + "label": "Vitreoretinopathy, neovascular inflammatory" + } + } + ], + "metaData": { + "created": "2024-06-11T18:08:55.300893Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": 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"HP:0005920", + "label": "Abnormal epiphysis morphology of the phalanges of the hand" + } + }, + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619248", + "label": "Vitreoretinopathy with phalangeal epiphyseal dysplasia" + } + } + ], + "metaData": { + "created": "2024-06-11T21:39:45.819673Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vocal_cord_paralysis_and_ptosis_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vocal_cord_paralysis_and_ptosis_patient_1.json new file mode 100644 index 000000000..4b6b78aec --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vocal_cord_paralysis_and_ptosis_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "vocal_cord_paralysis_and_ptosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001488", + "label": "Bilateral ptosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:193240", + "label": "Vocal cord paralysis and ptosis" + } + } + ], + "metaData": { + "created": "2024-06-11T19:45:41.165166Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vohwinkel_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vohwinkel_syndrome_patient_1.json new file mode 100644 index 000000000..afacd9836 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vohwinkel_syndrome_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "vohwinkel_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0032541", + "label": "Knuckle pad" + } + }, + { + "type": { + "id": "HP:0010483", + "label": "Amniotic constriction rings of arms" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:124500", + "label": "Vohwinkel syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:11:00.184937Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vohwinkel_syndrome_variant_form_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vohwinkel_syndrome_variant_form_patient_1.json new file mode 100644 index 000000000..57f88e1e0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vohwinkel_syndrome_variant_form_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "vohwinkel_syndrome,_variant_form", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0025114", + "label": "Hypergranulosis" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:604117", + "label": "Vohwinkel syndrome, variant form" + } + } + ], + "metaData": { + "created": "2024-06-11T19:18:28.560294Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Volvulus_of_midgut_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Volvulus_of_midgut_patient_1.json new file mode 100644 index 000000000..afb4f7cd5 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Volvulus_of_midgut_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "volvulus_of_midgut", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002566", + "label": "Intestinal malrotation" + } + }, + { + "type": { + "id": "HP:0000348", + "label": "High forehead" + } + }, + { + "type": { + "id": "HP:0000119", + "label": "Abnormality of the genitourinary system" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:193250", + "label": "Volvulus of midgut" + } + } + ], + "metaData": { + "created": "2024-06-11T20:41:09.861425Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Von_willebrand_disease_X_linked_form_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Von_willebrand_disease_X_linked_form_patient_1.json new file mode 100644 index 000000000..37baa26df --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Von_willebrand_disease_X_linked_form_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "von_willebrand_disease,_x-linked_form", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001892", + "label": "Abnormal bleeding" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:314560", + "label": "Von willebrand disease, X-linked form" + } + } + ], + "metaData": { + "created": "2024-06-11T22:01:18.270260Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Von_willebrand_disease_type_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Von_willebrand_disease_type_2_patient_1.json new file mode 100644 index 000000000..556e6a78b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Von_willebrand_disease_type_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "von_willebrand_disease,_type_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000132", + "label": "Menorrhagia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613554", + "label": "Von willebrand disease, type 2" + } + } + ], + "metaData": { + "created": "2024-06-11T20:56:34.541905Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Vulto_van_Silfout_de_Vries_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vulto_van_Silfout_de_Vries_syndrome_patient_1.json new file mode 100644 index 000000000..d342c0013 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Vulto_van_Silfout_de_Vries_syndrome_patient_1.json @@ -0,0 +1,153 @@ +{ + "id": "vulto-van_silfout-de_vries_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011228", + "label": "Horizontal eyebrow" + } + }, + { + "type": { + "id": "HP:0000179", + "label": "Thick lower lip vermilion" + } + }, + { + "type": { + "id": "HP:0001270", + "label": "Motor delay" + }, + "modifiers": [ + { + "id": "HP:0012825", + "label": "Mild" + } + ] + }, + { + "type": { + "id": "HP:0001288", + "label": "Gait disturbance" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000960", + "label": "Sacral dimple" + } + }, + { + "type": { + "id": "HP:0001263", + "label": "Global developmental delay" + } + }, + { + "type": { + "id": "HP:0002213", + "label": "Fine hair" + } + }, + { + "type": { + "id": "HP:0000712", + "label": "Emotional lability" + } + }, + { + "type": { + "id": "HP:0002376", + "label": "Developmental regression" + } + }, + { + "type": { + "id": "HP:0002719", + "label": "Recurrent infections" + } + }, + { + "type": { + "id": "HP:0000817", + "label": "Reduced eye contact" + } + }, + { + "type": { + "id": "HP:0007021", + "label": "Pain insensitivity" + } + }, + { + "type": { + "id": "HP:0000303", + "label": "Mandibular prognathia" + } + }, + { + "type": { + "id": "HP:0000349", + "label": "Widow's peak" + } + }, + { + "type": { + "id": "HP:0000248", + "label": "Brachycephaly" + } + }, + { + "type": { + "id": "HP:0005709", + "label": "2-3 toe cutaneous syndactyly" + } + }, + { + "type": { + "id": "HP:0000708", + "label": "Atypical behavior" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615828", + "label": "Vulto-van Silfout-de Vries syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:15:55.210248Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/WAGRO_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/WAGRO_syndrome_patient_1.json new file mode 100644 index 000000000..1a74394c7 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/WAGRO_syndrome_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "wagro_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000712", + "label": "Emotional lability" + } + }, + { + "type": { + "id": "HP:0012760", + "label": "Reduced social reciprocity" + } + }, + { + "type": { + "id": "HP:0002667", + "label": "Nephroblastoma" + } + }, + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + }, + { + "type": { + "id": "HP:0000526", + "label": "Aniridia" + } + }, + { + "type": { + "id": "HP:0000518", + "label": "Cataract" + } + }, + { + "type": { + "id": "HP:0000739", + "label": "Anxiety" + } + }, + { + "type": { + "id": "HP:0004324", + "label": "Increased body weight" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:612469", + "label": "WAGRO syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T22:31:14.741475Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/WHIM_syndrome_2_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/WHIM_syndrome_2_patient_1.json new file mode 100644 index 000000000..16ca44047 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/WHIM_syndrome_2_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "whim_syndrome_2", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0034284", + "label": "Recurrent gingivitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:619407", + "label": "WHIM syndrome 2" + } + } + ], + "metaData": { + "created": "2024-06-11T22:40:39.084823Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Waardenburg_Shah_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Waardenburg_Shah_syndrome_patient_1.json new file mode 100644 index 000000000..de92c6013 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Waardenburg_Shah_syndrome_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "waardenburg-shah_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002216", + "label": "Premature graying of hair" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0002227", + "label": "White eyelashes" + } + }, + { + "type": { + "id": "HP:0002415", + "label": "Leukodystrophy" + } + }, + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0001271", + "label": "Polyneuropathy" + } + }, + { + "type": { + "id": "HP:0000635", + "label": "Blue irides" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:277580", + "label": "Waardenburg-Shah syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T20:55:08.533307Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Waardenburg_syndrome_type_1_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Waardenburg_syndrome_type_1_patient_1.json new file mode 100644 index 000000000..72f11fceb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Waardenburg_syndrome_type_1_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "waardenburg_syndrome,_type_1", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005815", + "label": "Supernumerary ribs" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0000506", + "label": "Telecanthus" + } + }, + { + "type": { + "id": "HP:0002216", + "label": "Premature graying of hair" + } + }, + { + "type": { + "id": "HP:0000202", + "label": "Orofacial cleft" + } + }, + { + "type": { + "id": "HP:0003250", + "label": "Aplasia of the vagina" + } + }, + { + "type": { + "id": "HP:0000319", + "label": "Smooth philtrum" + } + }, + { + "type": { + "id": "HP:0000303", + "label": "Mandibular prognathia" + } + }, + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + }, + { + "type": { + "id": "HP:0002226", + "label": "White eyebrow" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:193500", + "label": "Waardenburg syndrome, type 1" + } + } + ], + "metaData": { + "created": "2024-06-11T21:52:23.654687Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Waardenburg_syndrome_type_2A_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Waardenburg_syndrome_type_2A_patient_1.json new file mode 100644 index 000000000..2a6dc9957 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Waardenburg_syndrome_type_2A_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "waardenburg_syndrome,_type_2a", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0007587", + "label": "Numerous pigmented freckles" + } + }, + { + "type": { + "id": "HP:0007990", + "label": "Hypoplastic iris stroma" + } + }, + { + "type": { + "id": "HP:0002216", + "label": "Premature graying of hair" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0000407", + 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\ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Waardenburg_syndrome_type_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Waardenburg_syndrome_type_3_patient_1.json new file mode 100644 index 000000000..f83a4aed4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Waardenburg_syndrome_type_3_patient_1.json @@ -0,0 +1,105 @@ +{ + "id": "waardenburg_syndrome,_type_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0009473", + "label": "Joint contracture of the hand" + } + }, + { + "type": { + "id": "HP:0009702", + "label": "Carpal synostosis" + } + }, + { + "type": { + "id": "HP:0000431", + "label": "Wide nasal bridge" + } + }, + { + "type": { + "id": "HP:0005872", + "label": "Brachytelomesophalangy" + } + }, + { + "type": { + "id": "HP:0005650", + "label": "2-5 finger cutaneous syndactyly" + } + }, + { + "type": { + "id": "HP:0009781", + "label": 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"version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Waardenburg_syndrome_type_4B_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Waardenburg_syndrome_type_4B_patient_1.json new file mode 100644 index 000000000..37d21bea4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Waardenburg_syndrome_type_4B_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "waardenburg_syndrome,_type_4b", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002211", + "label": "White forelock" + } + }, + { + "type": { + "id": "HP:0000635", + "label": "Blue irides" + } + }, + { + "type": { + "id": "HP:0002226", + "label": "White eyebrow" + } + }, + { + "type": { + "id": "HP:0200064", + "label": "Asymmetry of iris pigmentation" + } + }, + { + "type": { + "id": "HP:0000499", + "label": "Abnormal eyelash morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613265", + "label": "Waardenburg syndrome, type 4B" + } + } + ], + "metaData": { + "created": "2024-06-12T00:31:46.434171Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Waardenburg_syndrome_type_4C_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Waardenburg_syndrome_type_4C_patient_1.json new file mode 100644 index 000000000..1042bfb41 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Waardenburg_syndrome_type_4C_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "waardenburg_syndrome,_type_4c", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000135", + "label": "Hypogonadism" + } + }, + { + "type": { + "id": "HP:0000635", + "label": "Blue irides" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0002211", + "label": "White forelock" + } + }, + { + "type": { + "id": "HP:0000032", + "label": "Abnormal male external genitalia morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613266", + "label": "Waardenburg syndrome, type 4C" + } + } + ], + "metaData": { + "created": "2024-06-11T23:36:53.564642Z", + "createdBy": 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+ "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001100", + "label": "Heterochromia iridis" + } + }, + { + "type": { + "id": "HP:0004771", + "label": "Premature graying of body hair" + } + }, + { + "type": { + "id": "HP:0002211", + "label": "White forelock" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:600193", + "label": "Waardenburg syndrome, type IIB" + } + } + ], + "metaData": { + "created": "2024-06-11T23:32:16.340424Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Wagner_vitreoretinopathy_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Wagner_vitreoretinopathy_patient_1.json new file mode 100644 index 000000000..f4af62da8 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Wagner_vitreoretinopathy_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "wagner_vitreoretinopathy", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0030490", + "label": "Exudative vitreoretinopathy" + } + }, + { + "type": { + "id": "HP:0007917", + "label": "Tractional retinal detachment" + } + }, + { + "type": { + "id": "HP:0012108", + "label": "Open angle glaucoma" + } + }, + { + "type": { + "id": "HP:0004327", + "label": "Abnormal vitreous humor morphology" + } + }, + { + "type": { + "id": "HP:0000505", + "label": "Visual impairment" + } + }, + { + "type": { + 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100644 index 000000000..a9e3a5bc4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Wahab_syndrome_patient_1.json @@ -0,0 +1,63 @@ +{ + "id": "wahab_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001773", + "label": "Short foot" + } + }, + { + "type": { + "id": "HP:0030084", + "label": "Clinodactyly" + } + }, + { + "type": { + "id": "HP:0010049", + "label": "Short metacarpal" + } + }, + { + "type": { + "id": "HP:0004279", + "label": "Short palm" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615170", + "label": "Wahab syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:47:34.482218Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": 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+} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Weill_Marchesani_syndrome_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Weill_Marchesani_syndrome_3_patient_1.json new file mode 100644 index 000000000..5a948dc82 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Weill_Marchesani_syndrome_3_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "weill-marchesani_syndrome_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001650", + "label": "Aortic valve stenosis" + } + }, + { + "type": { + "id": "HP:0030961", + "label": "Microspherophakia" + } + }, + { + "type": { + "id": "HP:0034348", + "label": "Subpulmonary stenosis" + } + }, + { + "type": { + "id": "HP:0012372", + "label": "Abnormal eye morphology" + } + }, + { + "type": { + "id": "HP:0007906", + "label": "Ocular hypertension" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:614819", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Weill_Marchesani_syndrome_4_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "weill-marchesani_syndrome_4", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0004322", + "label": "Short stature" + } + }, + { + "type": { + "id": "HP:0000594", + "label": "Shallow anterior chamber" + } + }, + { + "type": { + "id": "HP:0011003", + "label": "High myopia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:613195", + "label": "Weill-Marchesani syndrome 4" + } + } + ], + "metaData": { + "created": "2024-06-11T20:09:52.688166Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": 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newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Weiss_Kruszka_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Weiss_Kruszka_syndrome_patient_1.json new file mode 100644 index 000000000..4f02ad628 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Weiss_Kruszka_syndrome_patient_1.json @@ -0,0 +1,165 @@ +{ + "id": "weiss-kruszka_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000729", + "label": "Autistic behavior" + } + }, + { + "type": { + "id": "HP:0011968", + "label": "Feeding difficulties" + } + }, + { + "type": { + "id": "HP:0000378", + "label": "Cupped ear" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0012373", + "label": "Abnormal eye physiology" + } + }, + { + "type": { + "id": "HP:0200006", + "label": "Slanting of the palpebral fissure" + } + }, + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Weyers_acrofacial_dysostosis_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "weyers_acrofacial_dysostosis", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002164", + "label": "Nail dysplasia" + } + }, + { + "type": { + "id": "HP:0009136", + "label": "Duplication involving bones of the feet" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:193530", + "label": "Weyers acrofacial dysostosis" + } + } + ], + "metaData": { + "created": "2024-06-11T19:46:32.568390Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Weyers_ulnar_ray_oligodactyly_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Weyers_ulnar_ray_oligodactyly_syndrome_patient_1.json new file mode 100644 index 000000000..d71f959eb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Weyers_ulnar_ray_oligodactyly_syndrome_patient_1.json @@ -0,0 +1,99 @@ +{ + "id": "weyers_ulnar_ray/oligodactyly_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0006315", + "label": "Solitary median maxillary central incisor" + } + }, + { + "type": { + "id": "HP:0000126", + "label": "Hydronephrosis" + } + }, + { + "type": { + "id": "HP:0006496", + "label": "Aplasia/hypoplasia involving bones of the upper limbs" + } + }, + { + "type": { + "id": "HP:0002973", + "label": "Abnormal forearm morphology" + } + }, + { + "type": { + "id": "HP:0011842", + "label": "Abnormal skeletal morphology" + } + }, + { + "type": { + "id": "HP:0003086", + "label": "Acromesomelia" + } + }, + { + "type": { + "id": "HP:0001167", + "label": "Abnormal finger morphology" + } + }, + { + "type": { + "id": "HP:0005070", + "label": "Proximal radial head dislocation" + } + }, + { + "type": { + "id": "HP:0009777", + "label": "Absent thumb" + } + }, + { + "type": { + "id": "HP:5201005", + "label": "Complete cleft soft palate" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:602418", + "label": "Weyers ulnar ray/oligodactyly syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T23:48:50.317217Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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"https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Whistling_face_syndrome_recessive_form_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Whistling_face_syndrome_recessive_form_patient_1.json new file mode 100644 index 000000000..1e8c16299 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Whistling_face_syndrome_recessive_form_patient_1.json @@ -0,0 +1,117 @@ +{ + "id": "whistling_face_syndrome,_recessive_form", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0010751", + "label": "Dimple chin" + } + }, + { + "type": { + "id": "HP:0000506", + "label": "Telecanthus" + } + }, + { + "type": { + "id": "HP:0001762", + "label": "Talipes 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file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/White_Sutton_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/White_Sutton_syndrome_patient_1.json new file mode 100644 index 000000000..3b7fdbfa4 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/White_Sutton_syndrome_patient_1.json @@ -0,0 +1,225 @@ +{ + "id": "white-sutton_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000437", + "label": "Depressed nasal tip" + } + }, + { + "type": { + "id": "HP:0008619", + "label": "Bilateral sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0001156", + "label": "Brachydactyly" + } + }, + { + "type": { + "id": "HP:0002645", + "label": "Wormian bones" + } + }, + { + "type": { + "id": "HP:0000175", + "label": "Cleft palate" + } + }, + { + "type": { + "id": "HP:0000337", + "label": "Broad forehead" + } + }, + { + "type": { + "id": "HP:0002173", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Wiedemann_Steiner_syndrome_patient_1.json @@ -0,0 +1,285 @@ +{ + "id": "wiedemann-steiner_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008897", + "label": "Postnatal growth retardation" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0002230", + "label": "Generalized hirsutism" + } + }, + { + "type": { + "id": "HP:0001763", + "label": "Pes planus" + } + }, + { + "type": { + "id": "HP:0000445", + "label": "Wide nose" + } + }, + { + "type": { + "id": "HP:0031623", + "label": "Brow ptosis" + } + }, + { + "type": { + "id": "HP:0000414", + "label": "Bulbous nose" + } + }, + { + "type": { + "id": "HP:0000527", + "label": "Long eyelashes" + } + }, + { + "type": { + "id": "HP:0002000", + "label": "Short columella" + } + }, + { + "type": { + "id": "HP:0000219", + "label": "Thin upper lip vermilion" + } + }, + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Wilms_tumor_aniridia_genitourinary_anomalies_and_mental_retardationsyndrome_patient_1.json new file mode 100644 index 000000000..26beadeba --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Wilms_tumor_aniridia_genitourinary_anomalies_and_mental_retardationsyndrome_patient_1.json @@ -0,0 +1,80 @@ +{ + "id": "wilms_tumor,_aniridia,_genitourinary_anomalies,_and_mental_retardationsyndrome", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P39Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001513", + "label": "Obesity" + } + }, + { + "type": { + "id": "HP:0000112", + "label": "Nephropathy" + }, + "onset": { + "ontologyClass": { + "id": "HP:0003581", + "label": "Adult onset" + } + } + }, + { + "type": { + "id": "HP:0000130", + "label": "Abnormality of the uterus" + } + }, + { + "type": { + "id": "HP:0010464", + "label": "Streak ovary" + } + }, + { 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Wilson_Turner_syndrome_patient_1.json new file mode 100644 index 000000000..b319e79cb --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Wilson_Turner_syndrome_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "wilson-turner_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000028", + "label": "Cryptorchidism" + } + }, + { + "type": { + "id": "HP:0000771", + "label": "Gynecomastia" + } + }, + { + "type": { + "id": "HP:0025268", + "label": "Stuttering" + } + }, + { + "type": { + "id": "HP:0000574", + "label": "Thick eyebrow" + } + }, + { + "type": { + "id": "HP:0000712", + "label": "Emotional lability" + } + }, + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0006887", + "label": "Intellectual disability, progressive" + } + }, + { + "type": { + "id": "HP:0001182", + "label": "Tapered 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Wilson_disease_patient_1.json new file mode 100644 index 000000000..914e52fc1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Wilson_disease_patient_1.json @@ -0,0 +1,134 @@ +{ + "id": "wilson_disease", + "subject": { + "id": "patient1", + "timeAtLastEncounter": { + "age": { + "iso8601duration": "P14Y" + } + } + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002063", + "label": "Rigidity" + } + }, + { + "type": { + "id": "HP:0001397", + "label": "Hepatic steatosis" + } + }, + { + "type": { + "id": "HP:0033748", + "label": "Hypoesthesia" + } + }, + { + "type": { + "id": "HP:0001538", + "label": "Protuberant abdomen" + } + }, + { + "type": { + "id": "HP:0006580", + "label": "Portal fibrosis" + } + }, + { + "type": { + "id": "HP:0010839", + "label": "Increased urinary copper concentration" + } + }, + { + "type": { + "id": "HP:0002378", + "label": "Hand tremor" + } + }, + { + "type": { + "id": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Witteveen_Kolk_syndrome_patient_1.json new file mode 100644 index 000000000..43aee0c85 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Witteveen_Kolk_syndrome_patient_1.json @@ -0,0 +1,579 @@ +{ + "id": "witteveen-kolk_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001518", + "label": "Small for gestational age" + } + }, + { + "type": { + "id": "HP:0000275", + "label": "Narrow face" + } + }, + { + "type": { + "id": "HP:0000343", + "label": "Long philtrum" + } + }, + { + "type": { + "id": "HP:0002360", + "label": "Sleep abnormality" + } + }, + { + "type": { + "id": "HP:0000454", + "label": "Flared nostrils" + } + }, + { + "type": { + "id": "HP:0000023", + "label": "Inguinal hernia" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0000194", + "label": "Open mouth" + } + }, + { + "type": { + 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Wolman_disease_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Wolman_disease_patient_1.json new file mode 100644 index 000000000..d640f2a24 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Wolman_disease_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "wolman_disease", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0003270", + "label": "Abdominal distention" + } + }, + { + "type": { + "id": "HP:0002240", + "label": "Hepatomegaly" + } + }, + { + "type": { + "id": "HP:0002572", + "label": "Episodic vomiting" + } + }, + { + "type": { + "id": "HP:0001945", + "label": "Fever" + } + }, + { + "type": { + "id": "HP:0001531", + "label": "Failure to thrive in infancy" + } + }, + { + "type": { + "id": "HP:0031205", + "label": "Reduced lysosomal acid lipase activity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620151", + "label": "Wolman 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Woodhouse_Sakati_syndrome_patient_1.json @@ -0,0 +1,75 @@ +{ + "id": "woodhouse-sakati_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002213", + "label": "Fine hair" + } + }, + { + "type": { + "id": "HP:0008734", + "label": "Decreased testicular size" + } + }, + { + "type": { + "id": "HP:0000044", + "label": "Hypogonadotropic hypogonadism" + } + }, + { + "type": { + "id": "HP:0008697", + "label": "Hypoplasia of the fallopian tube" + } + }, + { + "type": { + "id": "HP:0011389", + "label": "Functional abnormality of the inner ear" + } + }, + { + "type": { + "id": "HP:0031028", + "label": "Lactescent serum" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:241080", + "label": "Woodhouse-Sakati syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:25:01.551554Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human 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} + }, + { + "type": { + "id": "HP:0001098", + "label": "Abnormal fundus morphology" + } + }, + { + "type": { + "id": "HP:0011937", + "label": "Hypoplastic fifth toenail" + } + }, + { + "type": { + "id": "HP:0011335", + "label": "Frontal hirsutism" + } + }, + { + "type": { + "id": "HP:0000954", + "label": "Single transverse palmar crease" + } + }, + { + "type": { + "id": "HP:0001376", + "label": "Limitation of joint mobility" + } + }, + { + "type": { + "id": "HP:0002164", + "label": "Nail dysplasia" + } + }, + { + "type": { + "id": "HP:0011939", + "label": "3-4 finger cutaneous syndactyly" + } + }, + { + "type": { + "id": "HP:0012179", + "label": "Craniofacial dystonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:615236", + "label": "Woods syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T18:31:41.611303Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Woolly_hair_autosomal_dominant_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Woolly_hair_autosomal_dominant_patient_1.json new file mode 100644 index 000000000..124d7f1fa --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Woolly_hair_autosomal_dominant_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "woolly_hair,_autosomal_dominant", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011359", + "label": "Dry hair" + } + }, + { + "type": { + "id": "HP:0002208", + "label": "Coarse hair" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:194300", + "label": "Woolly hair, autosomal dominant" + } + } + ], + "metaData": { + "created": "2024-06-11T19:32:57.430676Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Woolly_hair_autosomal_recessive_3_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Woolly_hair_autosomal_recessive_3_patient_1.json new file mode 100644 index 000000000..e65bff8a0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Woolly_hair_autosomal_recessive_3_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "woolly_hair,_autosomal_recessive_3", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000653", + "label": "Sparse eyelashes" + } + }, + { + "type": { + "id": "HP:0002213", + "label": "Fine hair" + } + }, + { + "type": { + "id": "HP:0011138", + "label": "Abnormal skin adnexa morphology" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:616760", + "label": "Woolly hair, autosomal recessive 3" + } + } + ], + "metaData": { + "created": "2024-06-11T20:12:07.344878Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": 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"id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008070", + "label": "Sparse hair" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:278200", + "label": "Woolly hair, hypotrichosis, everted lower lip, and outstanding ears" + } + } + ], + "metaData": { + "created": "2024-06-11T18:56:13.866834Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Woolly_hair_skin_fragility_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Woolly_hair_skin_fragility_syndrome_patient_1.json new file mode 100644 index 000000000..5ed674c1d --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Woolly_hair_skin_fragility_syndrome_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "woolly_hair-skin_fragility_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001030", + "label": "Fragile skin" + } + }, + { + "type": { + "id": "HP:0032152", + "label": "Keratosis pilaris" + } + }, + { + "type": { + "id": "HP:0002224", + "label": "Woolly hair" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620415", + "label": "Woolly hair-skin fragility syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T19:33:58.613556Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Woronets_trait_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Woronets_trait_patient_1.json new file mode 100644 index 000000000..ff49fcc8b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Woronets_trait_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "woronets_trait", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0005540", + "label": "Red blood cell keratocytosis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:194320", + "label": "Woronets trait" + } + } + ], + "metaData": { + "created": "2024-06-11T21:16:43.557293Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Wrinkly_skin_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Wrinkly_skin_syndrome_patient_1.json new file mode 100644 index 000000000..934cdb5c3 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Wrinkly_skin_syndrome_patient_1.json @@ -0,0 +1,267 @@ +{ + "id": "wrinkly_skin_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001476", + "label": "Delayed closure of the anterior fontanelle" + } + }, + { + "type": { + "id": "HP:0001537", + "label": "Umbilical hernia" + } + }, + { + "type": { + "id": "HP:0011623", + "label": "Muscular ventricular septal defect" + } + }, + { + "type": { + "id": "HP:0000286", + "label": "Epicanthus" + } + }, + { + "type": { + "id": "HP:0000592", + "label": "Blue sclerae" + } + }, + { + "type": { + "id": "HP:0000253", + "label": "Progressive microcephaly" + } + }, + { + "type": { + "id": "HP:0007517", + "label": "Palmoplantar cutis laxa" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0001808", + "label": "Fragile nails" + } + }, + { + "type": { 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"type": { + "id": "HP:0002705", + "label": "High, narrow palate" + } + }, + { + "type": { + "id": "HP:0007414", + "label": "Neonatal wrinkled skin of hands and feet" + } + }, + { + "type": { + "id": "HP:0001799", + "label": "Short nail" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0009121", + "label": "Abnormal axial skeleton morphology" + } + }, + { + "type": { + "id": "HP:0004349", + "label": "Reduced bone mineral density" + } + }, + { + "type": { + "id": "HP:0012741", + "label": "Unilateral cryptorchidism" + } + }, + { + "type": { + "id": "HP:0005100", + "label": "Premature birth following premature rupture of fetal membranes" + } + }, + { + "type": { + "id": "HP:0002823", + "label": "Abnormal femur morphology" + } + }, + { + "type": { + "id": "HP:0001382", + "label": "Joint hypermobility" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": 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"label": "Ascites" + } + }, + { + "type": { + "id": "HP:0002119", + "label": "Ventriculomegaly" + } + }, + { + "type": { + "id": "HP:0002650", + "label": "Scoliosis" + } + }, + { + "type": { + "id": "HP:0001761", + "label": "Pes cavus" + } + }, + { + "type": { + "id": "HP:0000083", + "label": "Renal insufficiency" + } + }, + { + "type": { + "id": "HP:0000618", + "label": "Blindness" + } + }, + { + "type": { + "id": "HP:0000093", + "label": "Proteinuria" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0003079", + "label": "Defective DNA repair after ultraviolet radiation damage" + } + }, + { + "type": { + "id": "HP:0000252", + "label": "Microcephaly" + } + }, + { + "type": { + "id": "HP:0001620", + "label": "High pitched voice" + } + }, + { + "type": { + "id": "HP:0004334", + "label": "Dermal atrophy" + } + }, + { + "type": { + "id": "HP:0000444", + "label": "Convex nasal ridge" + } + }, + { + "type": { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/X_LINKED_intellectual_disability_Shrimpton_type_patient_1.json new file mode 100644 index 000000000..9507f056a --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/X_LINKED_intellectual_disability_Shrimpton_type_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "x-linked_intellectual_disability,_shrimpton_type", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001249", + "label": "Intellectual disability" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300709", + "label": "X-LINKED intellectual disability, Shrimpton type" + } + } + ], + "metaData": { + "created": "2024-06-11T20:48:15.109615Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Xanthinuria_type_I_patient_1.json new file mode 100644 index 000000000..e39ee038b --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Xanthinuria_type_I_patient_1.json @@ -0,0 +1,57 @@ +{ + "id": "xanthinuria,_type_i", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:6000218", + "label": "Reduced circulating xanthine oxidase activity" + } + }, + { + "type": { + "id": "HP:0003198", + "label": "Myopathy" + } + }, + { + "type": { + "id": "HP:0003537", + "label": "Hypouricemia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:278300", + "label": "Xanthinuria, type I" + } + } + ], + "metaData": { + "created": "2024-06-11T20:53:54.952933Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": 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000000000..1c448628e --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Xeroderma_pigmentosum_complementation_group_A_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "xeroderma_pigmentosum,_complementation_group_a", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0011354", + "label": "Generalized abnormality of skin" + } + }, + { + "type": { + "id": "HP:0006937", + "label": "Impaired distal tactile sensation" + } + }, + { + "type": { + "id": "HP:0011355", + "label": "Localized skin lesion" + } + }, + { + "type": { + "id": "HP:0002439", + "label": "Frontolimbic dementia" + } + }, + { + "type": { + "id": "HP:0030350", + "label": "Erythematous papule" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:278700", + "label": "Xeroderma pigmentosum, complementation group A" + } + } + ], + "metaData": { + "created": "2024-06-11T19:26:14.685682Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + 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"xeroderma_pigmentosum,_complementation_group_b", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001251", + "label": "Ataxia" + } + }, + { + "type": { + "id": "HP:0000580", + "label": "Pigmentary retinopathy" + } + }, + { + "type": { + "id": "HP:0005328", + "label": "Progeroid facial appearance" + } + }, + { + "type": { + "id": "HP:0006739", + "label": "Squamous cell carcinoma of the skin" + } + }, + { + "type": { + "id": "HP:0004334", + "label": "Dermal atrophy" + } + }, + { + "type": { + "id": "HP:0000135", + "label": "Hypogonadism" + } + }, + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + } + }, + { + "type": { + "id": "HP:0011400", + "label": "Abnormal CNS myelination" + } + }, + { + "type": { + "id": "HP:0000407", + "label": "Sensorineural hearing impairment" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0007958", + "label": "Optic atrophy 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Xeroderma_pigmentosum_complementation_group_D_patient_1.json new file mode 100644 index 000000000..f333f5ebc --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Xeroderma_pigmentosum_complementation_group_D_patient_1.json @@ -0,0 +1,81 @@ +{ + "id": "xeroderma_pigmentosum,_complementation_group_d", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001097", + "label": "Keratoconjunctivitis sicca" + } + }, + { + "type": { + "id": "HP:0001265", + "label": "Hyporeflexia" + } + }, + { + "type": { + "id": "HP:0000992", + "label": "Cutaneous photosensitivity" + } + }, + { + "type": { + "id": "HP:0000621", + "label": "Entropion" + } + }, + { + "type": { + "id": "HP:0004334", + "label": "Dermal atrophy" + } + }, + { + "type": { + "id": "HP:0012638", + "label": "Abnormal nervous system physiology" + } + }, + { + "type": { + "id": "HP:0025608", + "label": "Cicatricial ectropion" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:278730", + "label": "Xeroderma pigmentosum, complementation group D" + } + } + ], + "metaData": { + "created": "2024-06-11T22:20:19.441705Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Xeroderma_pigmentosum_complementation_group_E_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Xeroderma_pigmentosum_complementation_group_E_patient_1.json new file mode 100644 index 000000000..19b7624ee --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Xeroderma_pigmentosum_complementation_group_E_patient_1.json @@ -0,0 +1,87 @@ +{ + "id": "xeroderma_pigmentosum,_complementation_group_e", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0001009", + "label": "Telangiectasia" + } + }, + { + "type": { + "id": "HP:0000118", + "label": "Phenotypic abnormality" + } + }, + { + "type": { + "id": "HP:0003079", + "label": "Defective DNA repair after ultraviolet radiation damage" + } + }, + { + "type": { + "id": "HP:0000613", + "label": "Photophobia" + } + }, + { + "type": { + "id": "HP:0031736", + "label": "Involutional entropion" + } + }, + { + "type": { + "id": "HP:0008069", + "label": "Neoplasm of the skin" + } + }, + { + "type": { + "id": "HP:0007655", + "label": 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a/corpora/synthetic_based_on_hpoa/default/phenopackets/Xeroderma_pigmentosum_complementation_group_F_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Xeroderma_pigmentosum_complementation_group_F_patient_1.json new file mode 100644 index 000000000..972d969c1 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Xeroderma_pigmentosum_complementation_group_F_patient_1.json @@ -0,0 +1,129 @@ +{ + "id": "xeroderma_pigmentosum,_complementation_group_f", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0200034", + "label": "Papule" + } + }, + { + "type": { + "id": "HP:0010783", + "label": "Erythema" + } + }, + { + "type": { + "id": "HP:0000726", + "label": "Dementia" + } + }, + { + "type": { + "id": "HP:0003079", + "label": "Defective DNA repair after ultraviolet radiation damage" + } + }, + { + "type": { + "id": "HP:0007587", + "label": "Numerous pigmented freckles" + } + }, + { + "type": { + "id": 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@@ +{ + "id": "xeroderma_pigmentosum,_complementation_group_g", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000568", + "label": "Microphthalmia" + } + }, + { + "type": { + "id": "HP:0003079", + "label": "Defective DNA repair after ultraviolet radiation damage" + } + }, + { + "type": { + "id": "HP:0001518", + "label": "Small for gestational age" + } + }, + { + "type": { + "id": "HP:0001510", + "label": "Growth delay" + } + }, + { + "type": { + "id": "HP:0000992", + "label": "Cutaneous photosensitivity" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:278780", + "label": "Xeroderma pigmentosum, complementation group G" + } + } + ], + "metaData": { + "created": "2024-06-11T23:01:01.428614Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Xerosis_and_growth_failure_with_immune_and_pulmonary_dysfunction_syndrome_patient_1.json @@ -0,0 +1,147 @@ +{ + "id": "xerosis_and_growth_failure_with_immune_and_pulmonary_dysfunction_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0008897", + "label": "Postnatal growth retardation" + } + }, + { + "type": { + "id": "HP:0025664", + "label": "Moderate to late preterm birth" + } + }, + { + "type": { + "id": "HP:0008551", + "label": "Microtia" + } + }, + { + "type": { + "id": "HP:0001511", + "label": "Intrauterine growth retardation" + } + }, + { + "type": { + "id": "HP:0001712", + "label": "Left ventricular hypertrophy" + } + }, + { + "type": { + "id": "HP:0001134", + "label": "Anterior polar cataract" + } + }, + { + "type": { + "id": "HP:0010946", + "label": "Dilatation of the renal pelvis" + } + }, + { + "type": { + "id": "HP:0007479", + "label": "Congenital nonbullous ichthyosiform erythroderma" + } + }, + { + "type": { + "id": "HP:0000316", + "label": "Hypertelorism" + } + }, + { + "type": { + "id": "HP:0500049", + "label": "Retinopathy of prematurity" + } + }, + { + "type": { + "id": "HP:0004349", + "label": "Reduced bone mineral density" + } + }, + { + "type": { + "id": "HP:0001655", + "label": "Patent foramen ovale" + } + }, + { + "type": { + "id": "HP:0011470", + "label": "Nasogastric tube feeding in infancy" + } + }, + { + "type": { + "id": "HP:0033194", + "label": "Perioral erythema" + } + }, + { + "type": { + "id": "HP:0011121", + "label": "Abnormal skin morphology" + } + }, + { + "type": { + "id": "HP:0030669", + "label": "Abnormal ocular adnexa morphology" + } + }, + { + "type": { + "id": "HP:0005105", + "label": "Abnormal nasal morphology" + } + }, + { + "type": { + "id": "HP:0031826", + "label": "Abnormal reflex" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:620510", + "label": "Xerosis and growth failure with immune and 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Xia_Gibbs_syndrome_patient_1.json @@ -0,0 +1,93 @@ +{ + "id": "xia-gibbs_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0002188", + "label": "Delayed CNS myelination" + } + }, + { + "type": { + "id": "HP:0025336", + "label": "Delayed ability to sit" + } + }, + { + "type": { + "id": "HP:0002079", + "label": "Hypoplasia of the corpus callosum" + } + }, + { + "type": { + "id": "HP:0000347", + "label": "Micrognathia" + } + }, + { + "type": { + "id": "HP:0009909", + "label": "Uplifted earlobe" + } + }, + { + "type": { + "id": "HP:0001256", + "label": "Intellectual disability, mild" + } + }, + { + "type": { + "id": "HP:0012736", + "label": "Profound global developmental delay" + } + }, + { + "type": { + "id": "HP:0000582", + "label": "Upslanted palpebral fissure" + } + }, + { + "type": { + "id": "HP:0002870", + "label": "Obstructive sleep apnea" + } + } + ], + "diseases": [ + { + 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b/corpora/synthetic_based_on_hpoa/default/phenopackets/Xp11_22_microduplication_syndrome_patient_1.json @@ -0,0 +1,51 @@ +{ + "id": "xp11.22_microduplication_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0002187", + "label": "Intellectual disability, profound" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300705", + "label": "Xp11.22 microduplication syndrome" + } + } + ], + "metaData": { + "created": "2024-06-11T21:10:22.233693Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + 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000000000..bc3b01854 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Xq25_duplication_syndrome_patient_1.json @@ -0,0 +1,69 @@ +{ + "id": "xq25_duplication_syndrome", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000750", + "label": "Delayed speech and language development" + } + }, + { + "type": { + "id": "HP:0002553", + "label": "Highly arched eyebrow" + } + }, + { + "type": { + "id": "HP:0000303", + "label": "Mandibular prognathia" + } + }, + { + "type": { + "id": "HP:0025325", + "label": "Sparse medial eyebrow" + } + }, + { + "type": { + "id": "HP:0006852", + "label": "Episodic generalized hypotonia" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:300979", + "label": "Xq25 duplication syndrome" + } + } + ], + "metaData": { + "created": "2024-06-12T02:16:38.944723Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/Zinc_deficiency_transient_neonatal_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/Zinc_deficiency_transient_neonatal_patient_1.json new file mode 100644 index 000000000..c63828ff0 --- /dev/null +++ b/corpora/synthetic_based_on_hpoa/default/phenopackets/Zinc_deficiency_transient_neonatal_patient_1.json @@ -0,0 +1,45 @@ +{ + "id": "zinc_deficiency,_transient_neonatal", + "subject": { + "id": "patient1" + }, + "phenotypicFeatures": [ + { + "type": { + "id": "HP:0000964", + "label": "Eczematoid dermatitis" + } + } + ], + "diseases": [ + { + "term": { + "id": "OMIM:608118", + "label": "Zinc deficiency, transient neonatal" + } + } + ], + "metaData": { + "created": "2024-06-11T23:23:22.884917Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": 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+ } + ], + "diseases": [ + { + "term": { + "id": "OMIM:119300", + "label": "van der Woude syndrome 1" + } + } + ], + "metaData": { + "created": "2024-06-12T02:19:34.812350Z", + "createdBy": "phenotype2phenopacket", + "resources": [ + { + "id": "hp", + "name": "human phenotype ontology", + "url": "http://purl.obolibrary.org/obo/hp.owl", + "version": "hp/releases/2024-04-24", + "namespacePrefix": "HP", + "iriPrefix": "http://purl.obolibrary.org/obo/HP_" + }, + { + "id": "omim", + "name": "Online Mendelian Inheritance in Man", + "url": "https://www.omim.org", + "version": "hp/releases/2023-04-18", + "namespacePrefix": "OMIM", + "iriPrefix": "https://omim.org/entry/" + } + ], + "phenopacketSchemaVersion": "2.0" + } +} \ No newline at end of file diff --git a/corpora/synthetic_based_on_hpoa/default/phenopackets/von_Hippel_Lindau_syndrome_patient_1.json b/corpora/synthetic_based_on_hpoa/default/phenopackets/von_Hippel_Lindau_syndrome_patient_1.json new file mode 100644 index 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